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Entry version 186 (31 Jul 2019)
Sequence version 6 (12 Sep 2018)
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Protein

Agrin

Gene

AGRN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Isoform 1: heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and proteolytic processing. Modulates calcium ion homeostasis in neurons, specifically by inducing an increase in cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the alpha3-subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain.
Isoform 2: transmembrane form that is the predominate form in neurons of the brain, induces dendritic filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan chains and the action of Rho-family GTPases.
Isoform 1, isoform 4 and isoform 5: neuron-specific (z+) isoforms that contain C-terminal insertions of 8-19 AA are potent activators of AChR clustering. Isoform 5, agrin (z+8), containing the 8-AA insert, forms a receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the 'z' isoforms.
Isoform 3 and isoform 6: lack any 'z' insert, are muscle-specific and may be involved in endothelial cell differentiation.
Agrin N-terminal 110 kDa subunit: is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity).By similarity2 Publications
Agrin C-terminal 22 kDa fragment: this released fragment is important for agrin signaling and to exert a maximal dendritic filopodia-inducing effect. All 'z' splice variants (z+) of this fragment also show an increase in the number of filopodia.

Miscellaneous

Cleaved C-terminal fragments may be used as a biomarker for sarcopenia, age-related progressive loss of skeletal muscle.1 Publication

Caution

The unknown residue 'x' in the transmembrane isoform is probably a proline residue by similarity to mouse and rat sequences.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1250Alternative splice site to produce 'x' isoformsBy similarity1
Sitei1751Alternative splice site to produce 'y' isoformsBy similarity1
Sitei1862Critical for cleavage by neurotrypsinBy similarity1
Sitei1888Alternative splice site to produce 'z' isoformsBy similarity1
Sitei1892Highly important for the agrin receptor complex activity of the 'z(8)' insertBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi1941 – 2009By similarityAdd BLAST69

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-2022928 HS-GAG biosynthesis
R-HSA-2024096 HS-GAG degradation
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
R-HSA-3656237 Defective EXT2 causes exostoses 2
R-HSA-3656253 Defective EXT1 causes exostoses 1, TRPS2 and CHDS
R-HSA-419037 NCAM1 interactions
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1
R-HSA-975634 Retinoid metabolism and transport

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O00468

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Agrin
Cleaved into the following 4 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AGRN
Synonyms:AGRIN
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:329 AGRN

Online Mendelian Inheritance in Man (OMIM)

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MIMi
103320 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00468

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Extracellular matrix, Membrane, Secreted, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myasthenic syndrome, congenital, 8 (CMS8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07136776G → S in CMS8; results in decreased AChR clustering. 1 Publication1
Natural variantiVAR_068726105N → I in CMS8; results in decreased AChR clustering. 2 Publications1
Natural variantiVAR_0687421709G → R in CMS8; results in disruption of the neuromuscular junction architecture; does not affect phosphorylation of MUSK; does not affect AChR clustering. 1 Publication1
Natural variantiVAR_0690661727V → F in CMS8; decreased AGRN-induced clustering of AChR by >100-fold and decreased phosphorylation of the MUSK receptor and AChR beta subunit by about 10-fold. Increased binding to alpha-dystroglycan. 1 Publication1
Natural variantiVAR_0713691875G → R in CMS8. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
375790

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
AGRN

MalaCards human disease database

More...
MalaCardsi
AGRN
MIMi615120 phenotype

Open Targets

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OpenTargetsi
ENSG00000188157

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98913 Postsynaptic congenital myasthenic syndromes
98914 Presynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24626

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AGRN

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000747130 – 2068AgrinAdd BLAST2039
ChainiPRO_000042161330 – 1102Agrin N-terminal 110 kDa subunitBy similarityAdd BLAST1073
ChainiPRO_00004216141103 – 2068Agrin C-terminal 110 kDa subunitBy similarityAdd BLAST966
ChainiPRO_00004216151103 – 1863Agrin C-terminal 90 kDa fragmentBy similarityAdd BLAST761
ChainiPRO_00004216161864 – 2068Agrin C-terminal 22 kDa fragmentBy similarityAdd BLAST205

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi31 ↔ 103By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi135N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi152 ↔ 177Or C-152 with C-183
Disulfide bondi197 ↔ 228PROSITE-ProRule annotation
Disulfide bondi202 ↔ 221PROSITE-ProRule annotation
Disulfide bondi210 ↔ 242PROSITE-ProRule annotation
Glycosylationi250N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi270 ↔ 303PROSITE-ProRule annotation
Disulfide bondi276 ↔ 296PROSITE-ProRule annotation
Disulfide bondi285 ↔ 317PROSITE-ProRule annotation
Disulfide bondi349 ↔ 368PROSITE-ProRule annotation
Disulfide bondi357 ↔ 389PROSITE-ProRule annotation
Disulfide bondi414 ↔ 447PROSITE-ProRule annotation
Disulfide bondi421 ↔ 440PROSITE-ProRule annotation
Disulfide bondi429 ↔ 461PROSITE-ProRule annotation
Disulfide bondi490 ↔ 520PROSITE-ProRule annotation
Disulfide bondi494 ↔ 513PROSITE-ProRule annotation
Disulfide bondi502 ↔ 534PROSITE-ProRule annotation
Disulfide bondi546 ↔ 585PROSITE-ProRule annotation
Disulfide bondi555 ↔ 578PROSITE-ProRule annotation
Disulfide bondi567 ↔ 599PROSITE-ProRule annotation
Disulfide bondi613 ↔ 650PROSITE-ProRule annotation
Disulfide bondi623 ↔ 643PROSITE-ProRule annotation
Disulfide bondi632 ↔ 664PROSITE-ProRule annotation
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei674PhosphoserineBy similarity1
Modified residuei676PhosphoserineBy similarity1
Disulfide bondi705 ↔ 736PROSITE-ProRule annotation
Disulfide bondi709 ↔ 729PROSITE-ProRule annotation
Disulfide bondi718 ↔ 750PROSITE-ProRule annotation
Glycosylationi777N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi793 ↔ 805By similarity
Disulfide bondi795 ↔ 812By similarity
Disulfide bondi814 ↔ 823By similarity
Disulfide bondi826 ↔ 844By similarity
Disulfide bondi847 ↔ 859By similarity
Disulfide bondi849 ↔ 866By similarity
Disulfide bondi868 ↔ 877By similarity
Disulfide bondi880 ↔ 891By similarity
Disulfide bondi923 ↔ 955PROSITE-ProRule annotation
Disulfide bondi928 ↔ 948PROSITE-ProRule annotation
Glycosylationi932N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi937 ↔ 969PROSITE-ProRule annotation
Disulfide bondi1333 ↔ 1344By similarity
Disulfide bondi1338 ↔ 1355By similarity
Disulfide bondi1357 ↔ 1366By similarity
Disulfide bondi1519 ↔ 1548By similarity
Disulfide bondi1553 ↔ 1564By similarity
Disulfide bondi1558 ↔ 1574By similarity
Disulfide bondi1576 ↔ 1585By similarity
Disulfide bondi1592 ↔ 1603By similarity
Disulfide bondi1597 ↔ 1613By similarity
Disulfide bondi1615 ↔ 1624By similarity
Disulfide bondi1822 ↔ 1836By similarity
Disulfide bondi1830 ↔ 1845By similarity
Glycosylationi1835O-linked (Fuc...) serineBy similarity1
Disulfide bondi1847 ↔ 1856By similarity
Disulfide bondi2039 ↔ 2065By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Contains heparan and chondroitin sulfate chains and alpha-dystroglycan as well as N-linked and O-linked oligosaccharides. Glycosaminoglycans (GAGs), present in the N-terminal 110 kDa fragment, are required for induction of filopodia in hippocampal neurons. The first cluster (Gly/Ser-rich) for GAG attachment contains heparan sulfate (HS) chains and the second cluster (Ser/Thr-rich), contains chondroitin sulfate (CS) chains. Heparin and heparin sulfate binding in the G3 domain is independent of calcium ions. Binds heparin with a stoichiometry of 2:1. Binds sialic acid with a stoichiometry of 1:1 and binding requires calcium ions (By similarity).By similarity
At synaptic junctions, cleaved at two conserved sites, alpha and beta, by neurotrypsin. Cleavage at the alpha-site produces the agrin N-terminal 110-kDa subunit and the agrin C-terminal 110-kDa subunit. Further cleavage of agrin C-terminal 110-kDa subunit at the beta site produces the C-terminal fragments, agrin C-terminal 90 kDa fragment and agrin C-terminal 22 kDa fragment. Excessive cleavage at the beta-site releases large amounts of the agrin C-terminal 22 kDa fragment leading to destabilization at the neuromuscular junction (NMJ).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei1102 – 1103Cleavage, alpha site; by neurotrypsinBy similarity2
Sitei1863 – 1864Cleavage, beta site; by neurotrypsinBy similarity2

Keywords - PTMi

Disulfide bond, Glycoprotein, Heparan sulfate, Phosphoprotein, Proteoglycan

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O00468

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O00468

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O00468

PeptideAtlas

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PeptideAtlasi
O00468

PRoteomics IDEntifications database

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PRIDEi
O00468

ProteomicsDB human proteome resource

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ProteomicsDBi
47914 [O00468-1]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
O00468

GlyConnect protein glycosylation platform

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GlyConnecti
998

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O00468

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O00468

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in basement membranes of lung and kidney. Muscle- and neuron-specific isoforms are found. Isoforms (y+) with the 4 AA insert and (z+8) isoforms with the 8 AA insert are all neuron-specific. Isoforms (z+11) are found in both neuronal and non-neuronal tissues.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000188157 Expressed in 221 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O00468 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O00468 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA040090

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (By similarity).

Interacts (N-terminal subunit) with TGF-beta family members, BMP2 AND BMP4; the interactions inhibit the activity of these growth factors.

Interacts with TGFB1; the interaction enhances the activity of TGFB1 (By similarity).

Component of the AGRN-LRP4 complex that consists of a tetramer of two AGRN-LRP4 heterodimers.

Interacts (via the laminin G-like 3 domain) directly with LRP4; the interaction is required for activation of MUSK and clustering of AChR and requires the 'z8' insert present in the z(+8) isoforms.

Interacts with DAG1; the interaction is influenced by cell surface glycosaminoglycans and by alternative splicing of AGRN.

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN7O152652EBI-947482,EBI-708350

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
132000, 22 interactors

Protein interaction database and analysis system

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IntActi
O00468, 13 interactors

Molecular INTeraction database

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MINTi
O00468

STRING: functional protein association networks

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STRINGi
9606.ENSP00000368678

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O00468

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 157NtAPROSITE-ProRule annotationAdd BLAST128
Domaini191 – 244Kazal-like 1PROSITE-ProRule annotationAdd BLAST54
Domaini264 – 319Kazal-like 2PROSITE-ProRule annotationAdd BLAST56
Domaini337 – 391Kazal-like 3PROSITE-ProRule annotationAdd BLAST55
Domaini408 – 463Kazal-like 4PROSITE-ProRule annotationAdd BLAST56
Domaini484 – 536Kazal-like 5PROSITE-ProRule annotationAdd BLAST53
Domaini540 – 601Kazal-like 6PROSITE-ProRule annotationAdd BLAST62
Domaini607 – 666Kazal-like 7PROSITE-ProRule annotationAdd BLAST60
Domaini699 – 752Kazal-like 8PROSITE-ProRule annotationAdd BLAST54
Domaini793 – 846Laminin EGF-like 1PROSITE-ProRule annotationAdd BLAST54
Domaini847 – 893Laminin EGF-like 2PROSITE-ProRule annotationAdd BLAST47
Domaini917 – 971Kazal-like 9PROSITE-ProRule annotationAdd BLAST55
Domaini1130 – 1252SEAPROSITE-ProRule annotationAdd BLAST123
Domaini1329 – 1367EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini1372 – 1548Laminin G-like 1PROSITE-ProRule annotationAdd BLAST177
Domaini1549 – 1586EGF-like 2PROSITE-ProRule annotationAdd BLAST38
Domaini1588 – 1625EGF-like 3PROSITE-ProRule annotationAdd BLAST38
Domaini1635 – 1822Laminin G-like 2PROSITE-ProRule annotationAdd BLAST188
Domaini1818 – 1857EGF-like 4PROSITE-ProRule annotationAdd BLAST40
Domaini1868 – 2065Laminin G-like 3PROSITE-ProRule annotationAdd BLAST198

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi671 – 677Gly/Ser-rich7
Compositional biasi974 – 1099Ser/Thr-richAdd BLAST126
Compositional biasi1058 – 1097Gly/Ser-richAdd BLAST40
Compositional biasi1254 – 1324Ser/Thr-richAdd BLAST71

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The NtA domain, absent in TM-agrin, is required for binding laminin and connecting to basal lamina.
Both laminin G-like 2 (G2) and laminin G-like 3 (G3) domains are required for alpha-dystroglycan/DAG1 binding. G3 domain is required for C-terminal heparin, heparan sulfate and sialic acid binding (By similarity).By similarity

Keywords - Domaini

EGF-like domain, Laminin EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410ITSI Eukaryota
ENOG410YKSA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158337

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000033860

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00468

KEGG Orthology (KO)

More...
KOi
K06254

Identification of Orthologs from Complete Genome Data

More...
OMAi
FQGVLIL

Database of Orthologous Groups

More...
OrthoDBi
414294at2759

TreeFam database of animal gene trees

More...
TreeFami
TF326548

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.70.960, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR003884 FacI_MAC
IPR003645 Fol_N
IPR002350 Kazal_dom
IPR036058 Kazal_dom_sf
IPR002049 Laminin_EGF
IPR001791 Laminin_G
IPR004850 NtA_dom
IPR000082 SEA_dom
IPR036364 SEA_dom_sf
IPR008993 TIMP-like_OB-fold

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 2 hits
PF00050 Kazal_1, 1 hit
PF07648 Kazal_2, 8 hits
PF00053 Laminin_EGF, 2 hits
PF00054 Laminin_G_1, 3 hits
PF03146 NtA, 1 hit
PF01390 SEA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 7 hits
SM00179 EGF_CA, 3 hits
SM00180 EGF_Lam, 2 hits
SM00057 FIMAC, 4 hits
SM00274 FOLN, 5 hits
SM00280 KAZAL, 9 hits
SM00282 LamG, 3 hits
SM00200 SEA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF100895 SSF100895, 9 hits
SSF49899 SSF49899, 3 hits
SSF50242 SSF50242, 1 hit
SSF82671 SSF82671, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022 EGF_1, 6 hits
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 4 hits
PS01248 EGF_LAM_1, 1 hit
PS50027 EGF_LAM_2, 2 hits
PS51465 KAZAL_2, 9 hits
PS50025 LAM_G_DOMAIN, 3 hits
PS51121 NTA, 1 hit
PS50024 SEA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Many isoforms may exist depending on the occurrence and length of inserts at the x, y or z splice site. Four 'z' isoforms can be produced with inserts of 0, 8, 11 or 19 AA. Isoforms differ in their acetylcholine receptor clustering activity and tissue specificity.

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00468-1) [UniParc]FASTAAdd to basket
Also known as: Secreted agrin, LN-agrin

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGRSHPGPL RPLLPLLVVA ACVLPGAGGT CPERALERRE EEANVVLTGT
60 70 80 90 100
VEEILNVDPV QHTYSCKVRV WRYLKGKDLV ARESLLDGGN KVVISGFGDP
110 120 130 140 150
LICDNQVSTG DTRIFFVNPA PPYLWPAHKN ELMLNSSLMR ITLRNLEEVE
160 170 180 190 200
FCVEDKPGTH FTPVPPTPPD ACRGMLCGFG AVCEPNAEGP GRASCVCKKS
210 220 230 240 250
PCPSVVAPVC GSDASTYSNE CELQRAQCSQ QRRIRLLSRG PCGSRDPCSN
260 270 280 290 300
VTCSFGSTCA RSADGLTASC LCPATCRGAP EGTVCGSDGA DYPGECQLLR
310 320 330 340 350
RACARQENVF KKFDGPCDPC QGALPDPSRS CRVNPRTRRP EMLLRPESCP
360 370 380 390 400
ARQAPVCGDD GVTYENDCVM GRSGAARGLL LQKVRSGQCQ GRDQCPEPCR
410 420 430 440 450
FNAVCLSRRG RPRCSCDRVT CDGAYRPVCA QDGRTYDSDC WRQQAECRQQ
460 470 480 490 500
RAIPSKHQGP CDQAPSPCLG VQCAFGATCA VKNGQAACEC LQACSSLYDP
510 520 530 540 550
VCGSDGVTYG SACELEATAC TLGREIQVAR KGPCDRCGQC RFGALCEAET
560 570 580 590 600
GRCVCPSECV ALAQPVCGSD GHTYPSECML HVHACTHQIS LHVASAGPCE
610 620 630 640 650
TCGDAVCAFG AVCSAGQCVC PRCEHPPPGP VCGSDGVTYG SACELREAAC
660 670 680 690 700
LQQTQIEEAR AGPCEQAECG SGGSGSGEDG DCEQELCRQR GGIWDEDSED
710 720 730 740 750
GPCVCDFSCQ SVPGSPVCGS DGVTYSTECE LKKARCESQR GLYVAAQGAC
760 770 780 790 800
RGPTFAPLPP VAPLHCAQTP YGCCQDNITA ARGVGLAGCP SACQCNPHGS
810 820 830 840 850
YGGTCDPATG QCSCRPGVGG LRCDRCEPGF WNFRGIVTDG RSGCTPCSCD
860 870 880 890 900
PQGAVRDDCE QMTGLCSCKP GVAGPKCGQC PDGRALGPAG CEADASAPAT
910 920 930 940 950
CAEMRCEFGA RCVEESGSAH CVCPMLTCPE ANATKVCGSD GVTYGNECQL
960 970 980 990 1000
KTIACRQGLQ ISIQSLGPCQ EAVAPSTHPT SASVTVTTPG LLLSQALPAP
1010 1020 1030 1040 1050
PGALPLAPSS TAHSQTTPPP SSRPRTTASV PRTTVWPVLT VPPTAPSPAP
1060 1070 1080 1090 1100
SLVASAFGES GSTDGSSDEE LSGDQEASGG GSGGLEPLEG SSVATPGPPV
1110 1120 1130 1140 1150
ERASCYNSAL GCCSDGKTPS LDAEGSNCPA TKVFQGVLEL EGVEGQELFY
1160 1170 1180 1190 1200
TPEMADPKSE LFGETARSIE STLDDLFRNS DVKKDFRSVR LRDLGPGKSV
1210 1220 1230 1240 1250
RAIVDVHFDP TTAFRAPDVA RALLRQIQVS RRRSLGVRRP LQEHVRFMDF
1260 1270 1280 1290 1300
DWFPAFITGA TSGAIAAGAT ARATTASRLP SSAVTPRAPH PSHTSQPVAK
1310 1320 1330 1340 1350
TTAAPTTRRP PTTAPSRVPG RRPPAPQQPP KPCDSQPCFH GGTCQDWALG
1360 1370 1380 1390 1400
GGFTCSCPAG RGGAVCEKVL GAPVPAFEGR SFLAFPTLRA YHTLRLALEF
1410 1420 1430 1440 1450
RALEPQGLLL YNGNARGKDF LALALLDGRV QLRFDTGSGP AVLTSAVPVE
1460 1470 1480 1490 1500
PGQWHRLELS RHWRRGTLSV DGETPVLGES PSGTDGLNLD TDLFVGGVPE
1510 1520 1530 1540 1550
DQAAVALERT FVGAGLRGCI RLLDVNNQRL ELGIGPGAAT RGSGVGECGD
1560 1570 1580 1590 1600
HPCLPNPCHG GAPCQNLEAG RFHCQCPPGR VGPTCADEKS PCQPNPCHGA
1610 1620 1630 1640 1650
APCRVLPEGG AQCECPLGRE GTFCQTASGQ DGSGPFLADF NGFSHLELRG
1660 1670 1680 1690 1700
LHTFARDLGE KMALEVVFLA RGPSGLLLYN GQKTDGKGDF VSLALRDRRL
1710 1720 1730 1740 1750
EFRYDLGKGA AVIRSREPVT LGAWTRVSLE RNGRKGALRV GDGPRVLGES
1760 1770 1780 1790 1800
PKSRKVPHTV LNLKEPLYVG GAPDFSKLAR AAAVSSGFDG AIQLVSLGGR
1810 1820 1830 1840 1850
QLLTPEHVLR QVDVTSFAGH PCTRASGHPC LNGASCVPRE AAYVCLCPGG
1860 1870 1880 1890 1900
FSGPHCEKGL VEKSAGDVDT LAFDGRTFVE YLNAVTESEL ANEIPVPETL
1910 1920 1930 1940 1950
DSGALHSEKA LQSNHFELSL RTEATQGLVL WSGKATERAD YVALAIVDGH
1960 1970 1980 1990 2000
LQLSYNLGSQ PVVLRSTVPV NTNRWLRVVA HREQREGSLQ VGNEAPVTGS
2010 2020 2030 2040 2050
SPLGATQLDT DGALWLGGLP ELPVGPALPK AYGTGFVGCL RDVVVGRHPL
2060
HLLEDAVTKP ELRPCPTP
Length:2,068
Mass (Da):217,320
Last modified:September 12, 2018 - v6
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8B3E3D0FF65517F0
GO
Isoform 2 (identifier: O00468-2) [UniParc]FASTAAdd to basket
Also known as: Transmembrane agrin, TM-agrin

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: Missing.
     105-154: NQVSTGDTRI...NLEEVEFCVE → MPXLAVARDT...FAVLLFLNNY

Note: Produced by usage of an alternative first exon.
Show »
Length:1,964
Mass (Da):205,631
Checksum:i7BF757E816F62697
GO
Isoform 3 (identifier: O00468-3) [UniParc]FASTAAdd to basket
Also known as: Agrin z(0)

The sequence of this isoform differs from the canonical sequence as follows:
     1889-1907: Missing.

Show »
Length:2,049
Mass (Da):215,345
Checksum:iC6CC67CA63060E92
GO
Isoform 4 (identifier: O00468-4) [UniParc]FASTAAdd to basket
Also known as: Agrin z(+11)

The sequence of this isoform differs from the canonical sequence as follows:
     1889-1896: Missing.

Show »
Length:2,060
Mass (Da):216,454
Checksum:i077C91AD1461DA46
GO
Isoform 5 (identifier: O00468-5) [UniParc]FASTAAdd to basket
Also known as: Agrin z(+8)

The sequence of this isoform differs from the canonical sequence as follows:
     1897-1907: Missing.

Show »
Length:2,057
Mass (Da):216,211
Checksum:i099A9FB384BDE301
GO
Isoform 6 (identifier: O00468-6) [UniParc]FASTAAdd to basket
Also known as: Agrin y(0)z(0)

The sequence of this isoform differs from the canonical sequence as follows:
     1752-1755: Missing.
     1889-1907: Missing.

Show »
Length:2,045
Mass (Da):214,846
Checksum:i108BDA7146ECB94D
GO
Isoform 7 (identifier: O00468-7) [UniParc]FASTAAdd to basket
Also known as: y(0)

The sequence of this isoform differs from the canonical sequence as follows:
     1752-1755: Missing.

Show »
Length:2,064
Mass (Da):216,820
Checksum:iBE27B1B77F5E894B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X208A0A087X208_HUMAN
Agrin
AGRN
1,930Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0G5A0A494C0G5_HUMAN
Agrin
AGRN
1,940Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1I6A0A494C1I6_HUMAN
Agrin
AGRN
1,963Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti343L → R in AAC39776 (PubMed:9652404).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06872423V → L1 Publication1
Natural variantiVAR_06872558D → N1 Publication1
Natural variantiVAR_07136776G → S in CMS8; results in decreased AChR clustering. 1 Publication1
Natural variantiVAR_068726105N → I in CMS8; results in decreased AChR clustering. 2 Publications1
Natural variantiVAR_068727267T → M1 Publication1
Natural variantiVAR_068728375A → S1 PublicationCorresponds to variant dbSNP:rs138031468EnsemblClinVar.1
Natural variantiVAR_068729728E → V1 PublicationCorresponds to variant dbSNP:rs113288277EnsemblClinVar.1
Natural variantiVAR_071368745A → V1 Publication1
Natural variantiVAR_068730852Q → R1 PublicationCorresponds to variant dbSNP:rs9697293EnsemblClinVar.1
Natural variantiVAR_068731984V → M1 Publication1
Natural variantiVAR_0687321088L → F1 PublicationCorresponds to variant dbSNP:rs150132566EnsemblClinVar.1
Natural variantiVAR_0687331118T → K1 PublicationCorresponds to variant dbSNP:rs149159118EnsemblClinVar.1
Natural variantiVAR_0687341135Q → R1 PublicationCorresponds to variant dbSNP:rs142416636EnsemblClinVar.1
Natural variantiVAR_0687351240P → L1 PublicationCorresponds to variant dbSNP:rs142620337EnsemblClinVar.1
Natural variantiVAR_0687361341G → R1 Publication1
Natural variantiVAR_0687371451P → L1 Publication1
Natural variantiVAR_0687381514A → T1 PublicationCorresponds to variant dbSNP:rs111818381EnsemblClinVar.1
Natural variantiVAR_0687391565Q → H1 PublicationCorresponds to variant dbSNP:rs199876002EnsemblClinVar.1
Natural variantiVAR_0489661666V → I1 PublicationCorresponds to variant dbSNP:rs17160775EnsemblClinVar.1
Natural variantiVAR_0687401671R → Q1 Publication1
Natural variantiVAR_0687411698R → P1 Publication1
Natural variantiVAR_0687421709G → R in CMS8; results in disruption of the neuromuscular junction architecture; does not affect phosphorylation of MUSK; does not affect AChR clustering. 1 Publication1
Natural variantiVAR_0690661727V → F in CMS8; decreased AGRN-induced clustering of AChR by >100-fold and decreased phosphorylation of the MUSK receptor and AChR beta subunit by about 10-fold. Increased binding to alpha-dystroglycan. 1 Publication1
Natural variantiVAR_0687431734R → H1 PublicationCorresponds to variant dbSNP:rs145444272EnsemblClinVar.1
Natural variantiVAR_0687441789D → N1 Publication1
Natural variantiVAR_0713691875G → R in CMS8. 1 Publication1
Natural variantiVAR_0687452046G → V1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0457531 – 104Missing in isoform 2. CuratedAdd BLAST104
Alternative sequenceiVSP_045754105 – 154NQVST…EFCVE → MPXLAVARDTRQPAGASLLV RGFMVPCNACLILLATATLG FAVLLFLNNY in isoform 2. CuratedAdd BLAST50
Alternative sequenceiVSP_0457551752 – 1755Missing in isoform 6 and isoform 7. Curated4
Alternative sequenceiVSP_0457561889 – 1907Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_0457571889 – 1896Missing in isoform 4. Curated8
Alternative sequenceiVSP_0457581897 – 1907Missing in isoform 5. CuratedAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB191264 mRNA Translation: BAD52440.1
AL645608 Genomic DNA No translation available.
AF016903 mRNA Translation: AAC39776.1
U84406 mRNA Translation: AAB52917.1
BC004220 mRNA Translation: AAH04220.2
BC007649 mRNA Translation: AAH07649.1
BC034009 mRNA Translation: AAH34009.1
BC063620 mRNA Translation: AAH63620.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30551.1 [O00468-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001292204.1, NM_001305275.1 [O00468-1]
NP_940978.2, NM_198576.3 [O00468-6]
XP_005244806.1, XM_005244749.3 [O00468-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379370; ENSP00000368678; ENSG00000188157 [O00468-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
375790

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:375790

UCSC genome browser

More...
UCSCi
uc001ack.3 human [O00468-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

The Leiden Muscular Dystrophy pages, Agrin (AGRN)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB191264 mRNA Translation: BAD52440.1
AL645608 Genomic DNA No translation available.
AF016903 mRNA Translation: AAC39776.1
U84406 mRNA Translation: AAB52917.1
BC004220 mRNA Translation: AAH04220.2
BC007649 mRNA Translation: AAH07649.1
BC034009 mRNA Translation: AAH34009.1
BC063620 mRNA Translation: AAH63620.1
CCDSiCCDS30551.1 [O00468-6]
RefSeqiNP_001292204.1, NM_001305275.1 [O00468-1]
NP_940978.2, NM_198576.3 [O00468-6]
XP_005244806.1, XM_005244749.3 [O00468-3]

3D structure databases

SMRiO00468
ModBaseiSearch...

Protein-protein interaction databases

BioGridi132000, 22 interactors
IntActiO00468, 13 interactors
MINTiO00468
STRINGi9606.ENSP00000368678

PTM databases

CarbonylDBiO00468
GlyConnecti998
iPTMnetiO00468
PhosphoSitePlusiO00468

Polymorphism and mutation databases

BioMutaiAGRN

Proteomic databases

EPDiO00468
jPOSTiO00468
PaxDbiO00468
PeptideAtlasiO00468
PRIDEiO00468
ProteomicsDBi47914 [O00468-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379370; ENSP00000368678; ENSG00000188157 [O00468-6]
GeneIDi375790
KEGGihsa:375790
UCSCiuc001ack.3 human [O00468-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
375790
DisGeNETi375790

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AGRN
GeneReviewsiAGRN
HGNCiHGNC:329 AGRN
HPAiHPA040090
MalaCardsiAGRN
MIMi103320 gene
615120 phenotype
neXtProtiNX_O00468
OpenTargetsiENSG00000188157
Orphaneti98913 Postsynaptic congenital myasthenic syndromes
98914 Presynaptic congenital myasthenic syndromes
PharmGKBiPA24626

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410ITSI Eukaryota
ENOG410YKSA LUCA
GeneTreeiENSGT00940000158337
HOGENOMiHOG000033860
InParanoidiO00468
KOiK06254
OMAiFQGVLIL
OrthoDBi414294at2759
TreeFamiTF326548

Enzyme and pathway databases

ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-2022928 HS-GAG biosynthesis
R-HSA-2024096 HS-GAG degradation
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
R-HSA-3656237 Defective EXT2 causes exostoses 2
R-HSA-3656253 Defective EXT1 causes exostoses 1, TRPS2 and CHDS
R-HSA-419037 NCAM1 interactions
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1
R-HSA-975634 Retinoid metabolism and transport
SignaLinkiO00468

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
AGRN human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Agrin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
375790

Protein Ontology

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PROi
PR:O00468

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000188157 Expressed in 221 organ(s), highest expression level in right uterine tube
ExpressionAtlasiO00468 baseline and differential
GenevisibleiO00468 HS

Family and domain databases

Gene3Di3.30.70.960, 1 hit
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR003884 FacI_MAC
IPR003645 Fol_N
IPR002350 Kazal_dom
IPR036058 Kazal_dom_sf
IPR002049 Laminin_EGF
IPR001791 Laminin_G
IPR004850 NtA_dom
IPR000082 SEA_dom
IPR036364 SEA_dom_sf
IPR008993 TIMP-like_OB-fold
PfamiView protein in Pfam
PF00008 EGF, 2 hits
PF00050 Kazal_1, 1 hit
PF07648 Kazal_2, 8 hits
PF00053 Laminin_EGF, 2 hits
PF00054 Laminin_G_1, 3 hits
PF03146 NtA, 1 hit
PF01390 SEA, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 7 hits
SM00179 EGF_CA, 3 hits
SM00180 EGF_Lam, 2 hits
SM00057 FIMAC, 4 hits
SM00274 FOLN, 5 hits
SM00280 KAZAL, 9 hits
SM00282 LamG, 3 hits
SM00200 SEA, 1 hit
SUPFAMiSSF100895 SSF100895, 9 hits
SSF49899 SSF49899, 3 hits
SSF50242 SSF50242, 1 hit
SSF82671 SSF82671, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 6 hits
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 4 hits
PS01248 EGF_LAM_1, 1 hit
PS50027 EGF_LAM_2, 2 hits
PS51465 KAZAL_2, 9 hits
PS50025 LAM_G_DOMAIN, 3 hits
PS51121 NTA, 1 hit
PS50024 SEA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAGRIN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00468
Secondary accession number(s): Q5SVA1
, Q5SVA2, Q60FE1, Q7KYS8, Q8N4J5, Q96IC1, Q9BTD4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: September 12, 2018
Last modified: July 31, 2019
This is version 186 of the entry and version 6 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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