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Entry version 207 (05 Jun 2019)
Sequence version 1 (01 Jan 1990)
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Protein

Glial fibrillary acidic protein

Gene

GFAP

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

GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1251985 Nuclear signaling by ERBB4

SIGNOR Signaling Network Open Resource

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SIGNORi
P14136

<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:
Glial fibrillary acidic protein
Short name:
GFAP
<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:GFAP
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4235 GFAP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
137780 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P14136

<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

<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>Keywords - Cellular componenti

Cytoplasm, Intermediate filament

<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

Alexander disease (ALXDRD)23 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.
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_07151763K → Q in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant dbSNP:rs60095124EnsemblClinVar.1
Natural variantiVAR_07151866R → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044569EnsemblClinVar.1
Natural variantiVAR_07151970R → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607510EnsemblClinVar.1
Natural variantiVAR_07152070R → W in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60343255EnsemblClinVar.1
Natural variantiVAR_07152172E → K in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607523EnsemblClinVar.1
Natural variantiVAR_07152273M → K in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61060395EnsemblClinVar.1
Natural variantiVAR_07152373M → R in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61060395EnsemblClinVar.1
Natural variantiVAR_07152473M → T in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61060395EnsemblClinVar.1
Natural variantiVAR_07152574M → T in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607504EnsemblClinVar.1
Natural variantiVAR_01746576L → F in ALXDRD. 3 PublicationsCorresponds to variant dbSNP:rs57120761EnsemblClinVar.1
Natural variantiVAR_07152676L → V in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs57120761EnsemblClinVar.1
Natural variantiVAR_07152777N → K in ALXDRD. 1 Publication1
Natural variantiVAR_07152877N → S in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs57590980EnsemblClinVar.1
Natural variantiVAR_01746677N → Y in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58732244EnsemblClinVar.1
Natural variantiVAR_01747778D → E in ALXDRD; adult form. 1 PublicationCorresponds to variant dbSNP:rs121909720EnsemblClinVar.1
Natural variantiVAR_07152978D → N in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044571EnsemblClinVar.1
Natural variantiVAR_01746779R → C in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs59793293EnsemblClinVar.1
Natural variantiVAR_07153079R → G in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59793293EnsemblClinVar.1
Natural variantiVAR_01746879R → H in ALXDRD. 4 PublicationsCorresponds to variant dbSNP:rs59285727EnsemblClinVar.1
Natural variantiVAR_07153179R → L in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs59285727EnsemblClinVar.1
Natural variantiVAR_07153279R → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59285727EnsemblClinVar.1
Natural variantiVAR_07153383Y → H in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607506EnsemblClinVar.1
Natural variantiVAR_07153486K → E in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044573EnsemblClinVar.1
Natural variantiVAR_01746988R → C in ALXDRD. 6 PublicationsCorresponds to variant dbSNP:rs61622935EnsemblClinVar.1
Natural variantiVAR_01747088R → S in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs61622935EnsemblClinVar.1
Natural variantiVAR_07153590L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59661476EnsemblClinVar.1
Natural variantiVAR_07153697L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59568967EnsemblClinVar.1
Natural variantiVAR_071537101L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607516EnsemblClinVar.1
Natural variantiVAR_071540207E → K in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607500EnsemblClinVar.1
Natural variantiVAR_071541207E → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607500EnsemblClinVar.1
Natural variantiVAR_071542210E → K in ALXDRD; affects intermediate filaments formation. 1 PublicationCorresponds to variant dbSNP:rs57661783EnsemblClinVar.1
Natural variantiVAR_071543235L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60269890EnsemblClinVar.1
Natural variantiVAR_071544236K → T in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607525EnsemblClinVar.1
Natural variantiVAR_017471239R → C in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs58064122EnsemblClinVar.1
Natural variantiVAR_017472239R → H in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs59565950EnsemblClinVar.1
Natural variantiVAR_071545239R → L in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59565950EnsemblClinVar.1
Natural variantiVAR_071546239R → P in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs59565950EnsemblClinVar.1
Natural variantiVAR_071547242Y → D in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60551555EnsemblClinVar.1
Natural variantiVAR_017473244A → V in ALXDRD; unknown pathological significance; does not affect intermediate filaments formation. 2 PublicationsCorresponds to variant dbSNP:rs61497286EnsemblClinVar.1
Natural variantiVAR_071548253A → G in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant dbSNP:rs61726470EnsemblClinVar.1
Natural variantiVAR_071549257Y → C in ALXDRD; impairs filaments formation. 1 PublicationCorresponds to variant dbSNP:rs267607505EnsemblClinVar.1
Natural variantiVAR_017474258R → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61726468EnsemblClinVar.1
Natural variantiVAR_071550267A → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044581EnsemblClinVar.1
Natural variantiVAR_071551276R → L in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs121909719EnsemblClinVar.1
Natural variantiVAR_071552279K → E in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58536923EnsemblClinVar.1
Natural variantiVAR_071553330R → G in ALXDRD; associated with Lys-332. 1 PublicationCorresponds to variant dbSNP:rs267607513EnsemblClinVar.1
Natural variantiVAR_071554332E → K in ALXDRD; associated with Gly-330. 1 PublicationCorresponds to variant dbSNP:rs267607514EnsemblClinVar.1
Natural variantiVAR_071555352L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs28932769EnsemblClinVar.1
Natural variantiVAR_071556359L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607511EnsemblClinVar.1
Natural variantiVAR_071557359L → V in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60825166EnsemblClinVar.1
Natural variantiVAR_017475362E → D in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs121909718EnsemblClinVar.1
Natural variantiVAR_071558364A → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58645997EnsemblClinVar.1
Natural variantiVAR_071559366Y → H in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58008462EnsemblClinVar.1
Natural variantiVAR_071560371E → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607526EnsemblClinVar.1
Natural variantiVAR_071561371E → V in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs57815192EnsemblClinVar.1
Natural variantiVAR_071562373E → D in ALXDRD. 1 Publication1
Natural variantiVAR_071563373E → K in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs58075601EnsemblClinVar.1
Natural variantiVAR_071564373E → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58075601EnsemblClinVar.1
Natural variantiVAR_071565374E → G in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59628143EnsemblClinVar.1
Natural variantiVAR_071566374E → Q in ALXDRD. 1 Publication1
Natural variantiVAR_071567376R → G in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607512EnsemblClinVar.1
Natural variantiVAR_071568385S → F in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044590EnsemblClinVar.1
Natural variantiVAR_017476416R → W in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs121909717EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
2670

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

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GeneReviewsi
GFAP

MalaCards human disease database

More...
MalaCardsi
GFAP
MIMi203450 phenotype

Open Targets

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OpenTargetsi
ENSG00000131095

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

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Orphaneti
363717 Alexander disease type I
363722 Alexander disease type II

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28647

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GFAP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121135

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000638051 – 432Glial fibrillary acidic proteinAdd BLAST432

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei7Phosphothreonine; by AURKB and ROCK12 Publications1
Modified residuei12Omega-N-methylarginineBy similarity1
Modified residuei13Phosphoserine; by AURKB and ROCK12 Publications1
Modified residuei30Citrulline1 Publication1
Modified residuei36Citrulline1 Publication1
Modified residuei38Phosphoserine; by AURKB and ROCK12 Publications1
Modified residuei82PhosphoserineBy similarity1
Modified residuei110PhosphothreonineBy similarity1
Modified residuei150PhosphothreonineBy similarity1
Modified residuei270Citrulline1 Publication1
Modified residuei323PhosphoserineBy similarity1
Modified residuei383PhosphothreonineBy similarity1
Modified residuei385PhosphoserineBy similarity1
Modified residuei406Citrulline1 Publication1
Modified residuei416Citrulline1 Publication1

<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

Phosphorylated by PKN1.3 Publications

Keywords - PTMi

Citrullination, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P14136

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P14136

MaxQB - The MaxQuant DataBase

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MaxQBi
P14136

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

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PaxDbi
P14136

PeptideAtlas

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PeptideAtlasi
P14136

PRoteomics IDEntifications database

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PRIDEi
P14136

ProteomicsDB human proteome resource

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ProteomicsDBi
53022
53023 [P14136-2]
53024 [P14136-3]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
P14136

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P14136

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P14136

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

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PhosphoSitePlusi
P14136

SwissPalm database of S-palmitoylation events

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SwissPalmi
P14136

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
P14136

<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 cells lacking fibronectin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000131095 Expressed in 137 organ(s), highest expression level in dorsal motor nucleus of vagus nerve

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P14136 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P14136 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB000039
HPA056030
HPA063513

<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

Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus).By similarity1 Publication

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108938, 102 interactors

Protein interaction database and analysis system

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IntActi
P14136, 85 interactors

Molecular INTeraction database

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MINTi
P14136

STRING: functional protein association networks

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STRINGi
9606.ENSP00000468500

<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

Secondary structure

1432
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P14136

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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>Domaini69 – 377IF rodPROSITE-ProRule annotationAdd BLAST309

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 72HeadAdd BLAST72
Regioni73 – 104Coil 1AAdd BLAST32
Regioni105 – 115Linker 1Add BLAST11
Regioni116 – 214Coil 1BAdd BLAST99
Regioni215 – 230Linker 12Add BLAST16
Regioni231 – 252Coil 2AAdd BLAST22
Regioni253 – 256Linker 24
Regioni257 – 377Coil 2BAdd BLAST121
Regioni378 – 432TailAdd BLAST55

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJXF Eukaryota
ENOG410Y9QE LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159539

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P14136

KEGG Orthology (KO)

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KOi
K05640

Identification of Orthologs from Complete Genome Data

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OMAi
AQQVHVD

Database of Orthologous Groups

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OrthoDBi
655109at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P14136

TreeFam database of animal gene trees

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TreeFami
TF330122

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027701 GFAP
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR006821 Intermed_filament_DNA-bd

The PANTHER Classification System

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PANTHERi
PTHR45652:SF9 PTHR45652:SF9, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00038 Filament, 1 hit
PF04732 Filament_head, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01391 Filament, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 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 (3+)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.

This entry describes 3 <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: Isoforms differ in the C-terminal region which is encoded by alternative exons.

This entry has 3 described isoforms and 22 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P14136-1) [UniParc]FASTAAdd to basket
Also known as: GFAP alpha

This isoform has been chosen as the 'canonical' 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
MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV
60 70 80 90 100
DFSLAGALNA GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE
110 120 130 140 150
LNQLRAKEPT KLADVYQAEL RELRLRLDQL TANSARLEVE RDNLAQDLAT
160 170 180 190 200
VRQKLQDETN LRLEAENNLA AYRQEADEAT LARLDLERKI ESLEEEIRFL
210 220 230 240 250
RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT QYEAMASSNM
260 270 280 290 300
HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR
310 320 330 340 350
GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ
360 370 380 390 400
DLLNVKLALD IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS
410 420 430
EGHLKRNIVV KTVEMRDGEV IKESKQEHKD VM
Length:432
Mass (Da):49,880
Last modified:January 1, 1990 - v1
<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:iE6C3B3454C3F1250
GO
Isoform 2 (identifier: P14136-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-432: ETSLDTKSVS...ESKQEHKDVM → GQYSRASWEG...LGAFVTLQRS

Note: No experimental confirmation available.
Show »
Length:438
Mass (Da):50,289
Checksum:i05F98D5333D60FE4
GO
Isoform 3 (identifier: P14136-3) [UniParc]FASTAAdd to basket
Also known as: GFAP epsilon

The sequence of this isoform differs from the canonical sequence as follows:
     391-432: ETSLDTKSVS...ESKQEHKDVM → GGKSTKDGEN...IVNGTPPARG

Show »
Length:431
Mass (Da):49,508
Checksum:i5D716D21A95240D6
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 22 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1X7SBR3A0A1X7SBR3_HUMAN
Glial fibrillary acidic protein
GFAP
472Annotation score:

Annotation score:3 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>
K7EMP8K7EMP8_HUMAN
Glial fibrillary acidic protein
GFAP
432Annotation 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>
K7EPI4K7EPI4_HUMAN
Glial fibrillary acidic protein
GFAP
124Annotation score:

Annotation score:1 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>
K7ELP4K7ELP4_HUMAN
Glial fibrillary acidic protein
GFAP
189Annotation score:

Annotation score:1 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>
K7EJU1K7EJU1_HUMAN
Glial fibrillary acidic protein
GFAP
248Annotation score:

Annotation score:1 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>
K7EKH9K7EKH9_HUMAN
Glial fibrillary acidic protein
GFAP
261Annotation score:

Annotation score:1 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>
B4DIR1B4DIR1_HUMAN
Glial fibrillary acidic protein
GFAP
179Annotation score:

Annotation score:1 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>
K7EKD1K7EKD1_HUMAN
Glial fibrillary acidic protein
GFAP
57Annotation score:

Annotation score:1 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>
A0A1W2PR46A0A1W2PR46_HUMAN
Glial fibrillary acidic protein
GFAP
505Annotation score:

Annotation score:1 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>
A0A1W2PRT3A0A1W2PRT3_HUMAN
Glial fibrillary acidic protein
GFAP
326Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

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 conflicti121R → P in CAB61354 (PubMed:17974005).Curated1
Sequence conflicti146Q → H (PubMed:1847665).Curated1
Sequence conflicti151V → L (PubMed:1847665).Curated1
Sequence conflicti155Missing in CAB61354 (PubMed:17974005).Curated1
Sequence conflicti158E → G in AAL16662 (Ref. 6) Curated1
Sequence conflicti160N → K (PubMed:1847665).Curated1
Sequence conflicti166E → D (PubMed:1847665).Curated1
Sequence conflicti174Q → QQ in CAB61354 (PubMed:17974005).Curated1
Sequence conflicti258R → H (PubMed:1847665).Curated1
Sequence conflicti326E → V in BAD96403 (Ref. 8) Curated1
Sequence conflicti334E → D (PubMed:1847665).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01746447P → L2 PublicationsCorresponds to variant dbSNP:rs57474185EnsemblClinVar.1
Natural variantiVAR_07151763K → Q in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant dbSNP:rs60095124EnsemblClinVar.1
Natural variantiVAR_07151866R → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044569EnsemblClinVar.1
Natural variantiVAR_07151970R → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607510EnsemblClinVar.1
Natural variantiVAR_07152070R → W in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60343255EnsemblClinVar.1
Natural variantiVAR_07152172E → K in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607523EnsemblClinVar.1
Natural variantiVAR_07152273M → K in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61060395EnsemblClinVar.1
Natural variantiVAR_07152373M → R in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61060395EnsemblClinVar.1
Natural variantiVAR_07152473M → T in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61060395EnsemblClinVar.1
Natural variantiVAR_07152574M → T in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607504EnsemblClinVar.1
Natural variantiVAR_01746576L → F in ALXDRD. 3 PublicationsCorresponds to variant dbSNP:rs57120761EnsemblClinVar.1
Natural variantiVAR_07152676L → V in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs57120761EnsemblClinVar.1
Natural variantiVAR_07152777N → K in ALXDRD. 1 Publication1
Natural variantiVAR_07152877N → S in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs57590980EnsemblClinVar.1
Natural variantiVAR_01746677N → Y in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58732244EnsemblClinVar.1
Natural variantiVAR_01747778D → E in ALXDRD; adult form. 1 PublicationCorresponds to variant dbSNP:rs121909720EnsemblClinVar.1
Natural variantiVAR_07152978D → N in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044571EnsemblClinVar.1
Natural variantiVAR_01746779R → C in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs59793293EnsemblClinVar.1
Natural variantiVAR_07153079R → G in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59793293EnsemblClinVar.1
Natural variantiVAR_01746879R → H in ALXDRD. 4 PublicationsCorresponds to variant dbSNP:rs59285727EnsemblClinVar.1
Natural variantiVAR_07153179R → L in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs59285727EnsemblClinVar.1
Natural variantiVAR_07153279R → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59285727EnsemblClinVar.1
Natural variantiVAR_07153383Y → H in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607506EnsemblClinVar.1
Natural variantiVAR_07153486K → E in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044573EnsemblClinVar.1
Natural variantiVAR_01746988R → C in ALXDRD. 6 PublicationsCorresponds to variant dbSNP:rs61622935EnsemblClinVar.1
Natural variantiVAR_01747088R → S in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs61622935EnsemblClinVar.1
Natural variantiVAR_07153590L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59661476EnsemblClinVar.1
Natural variantiVAR_07153697L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59568967EnsemblClinVar.1
Natural variantiVAR_071537101L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607516EnsemblClinVar.1
Natural variantiVAR_071538115V → I Polymorphism; does not affect intermediate filaments formation. 1 PublicationCorresponds to variant dbSNP:rs56746197EnsemblClinVar.1
Natural variantiVAR_071539157D → N1 PublicationCorresponds to variant dbSNP:rs59291670EnsemblClinVar.1
Natural variantiVAR_071540207E → K in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607500EnsemblClinVar.1
Natural variantiVAR_071541207E → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607500EnsemblClinVar.1
Natural variantiVAR_071542210E → K in ALXDRD; affects intermediate filaments formation. 1 PublicationCorresponds to variant dbSNP:rs57661783EnsemblClinVar.1
Natural variantiVAR_017478223E → Q2 PublicationsCorresponds to variant dbSNP:rs56679084EnsemblClinVar.1
Natural variantiVAR_071543235L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60269890EnsemblClinVar.1
Natural variantiVAR_071544236K → T in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607525EnsemblClinVar.1
Natural variantiVAR_017471239R → C in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs58064122EnsemblClinVar.1
Natural variantiVAR_017472239R → H in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs59565950EnsemblClinVar.1
Natural variantiVAR_071545239R → L in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59565950EnsemblClinVar.1
Natural variantiVAR_071546239R → P in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs59565950EnsemblClinVar.1
Natural variantiVAR_071547242Y → D in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60551555EnsemblClinVar.1
Natural variantiVAR_017473244A → V in ALXDRD; unknown pathological significance; does not affect intermediate filaments formation. 2 PublicationsCorresponds to variant dbSNP:rs61497286EnsemblClinVar.1
Natural variantiVAR_071548253A → G in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant dbSNP:rs61726470EnsemblClinVar.1
Natural variantiVAR_071549257Y → C in ALXDRD; impairs filaments formation. 1 PublicationCorresponds to variant dbSNP:rs267607505EnsemblClinVar.1
Natural variantiVAR_017474258R → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs61726468EnsemblClinVar.1
Natural variantiVAR_071550267A → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044581EnsemblClinVar.1
Natural variantiVAR_071551276R → L in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs121909719EnsemblClinVar.1
Natural variantiVAR_071552279K → E in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58536923EnsemblClinVar.1
Natural variantiVAR_017479295D → N2 PublicationsCorresponds to variant dbSNP:rs1126642EnsemblClinVar.1
Natural variantiVAR_071553330R → G in ALXDRD; associated with Lys-332. 1 PublicationCorresponds to variant dbSNP:rs267607513EnsemblClinVar.1
Natural variantiVAR_071554332E → K in ALXDRD; associated with Gly-330. 1 PublicationCorresponds to variant dbSNP:rs267607514EnsemblClinVar.1
Natural variantiVAR_071555352L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs28932769EnsemblClinVar.1
Natural variantiVAR_071556359L → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607511EnsemblClinVar.1
Natural variantiVAR_071557359L → V in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs60825166EnsemblClinVar.1
Natural variantiVAR_017475362E → D in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs121909718EnsemblClinVar.1
Natural variantiVAR_071558364A → P in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58645997EnsemblClinVar.1
Natural variantiVAR_071559366Y → H in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58008462EnsemblClinVar.1
Natural variantiVAR_071560371E → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607526EnsemblClinVar.1
Natural variantiVAR_071561371E → V in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs57815192EnsemblClinVar.1
Natural variantiVAR_071562373E → D in ALXDRD. 1 Publication1
Natural variantiVAR_071563373E → K in ALXDRD. 2 PublicationsCorresponds to variant dbSNP:rs58075601EnsemblClinVar.1
Natural variantiVAR_071564373E → Q in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs58075601EnsemblClinVar.1
Natural variantiVAR_071565374E → G in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs59628143EnsemblClinVar.1
Natural variantiVAR_071566374E → Q in ALXDRD. 1 Publication1
Natural variantiVAR_071567376R → G in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs267607512EnsemblClinVar.1
Natural variantiVAR_071568385S → F in ALXDRD. 1 PublicationCorresponds to variant dbSNP:rs797044590EnsemblClinVar.1
Natural variantiVAR_017476416R → W in ALXDRD. 5 PublicationsCorresponds to variant dbSNP:rs121909717EnsemblClinVar.1
Isoform 3 (identifier: P14136-3)
Natural varianti426T → A. 1
Natural varianti426T → V. 1

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_017051391 – 432ETSLD…HKDVM → GQYSRASWEGHWSPAPSSRA CRLLQTGTEDQGKGIQLSLG AFVTLQRS in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_017052391 – 432ETSLD…HKDVM → GGKSTKDGENHKVTRYLKSL TIRVIPIQAHQIVNGTPPAR G in isoform 3. 2 PublicationsAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
J04569 mRNA Translation: AAA52528.1
S40719 mRNA Translation: AAB22581.1
AF419299 mRNA Translation: AAL16662.1
AK128790 mRNA Translation: BAC87610.1
AK222683 mRNA Translation: BAD96403.1
AK315398 mRNA Translation: BAG37791.1
AL133013 Transcribed RNA Translation: CAB61354.2
AC015936 Genomic DNA No translation available.
CH471178 Genomic DNA Translation: EAW51570.1
CH471178 Genomic DNA Translation: EAW51571.1
BC013596 mRNA Translation: AAH13596.1
BC041765 mRNA Translation: AAH41765.1
BC062609 mRNA Translation: AAH62609.1
M26638 mRNA Translation: AAA52529.1
AJ306447 mRNA Translation: CAC69881.1
AY142187 Genomic DNA Translation: AAN87903.1
AY142188 Genomic DNA Translation: AAN87904.1
AY142191 Genomic DNA Translation: AAN87907.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11491.1 [P14136-1]
CCDS45708.1 [P14136-3]
CCDS59296.1 [P14136-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A32936
T42645

NCBI Reference Sequences

More...
RefSeqi
NP_001124491.1, NM_001131019.2 [P14136-3]
NP_001229305.1, NM_001242376.1 [P14136-2]
NP_002046.1, NM_002055.4 [P14136-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000435360; ENSP00000403962; ENSG00000131095 [P14136-3]
ENST00000588735; ENSP00000466598; ENSG00000131095 [P14136-1]
ENST00000638281; ENSP00000491088; ENSG00000131095 [P14136-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2670

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2670

UCSC genome browser

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UCSCi
uc002ihq.3 human [P14136-1]

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