Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 207 (13 Nov 2019)
Sequence version 2 (17 Oct 2006)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Glycine receptor subunit alpha-1

Gene

GLRA1

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

Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By similarity).By similarity1 Publication12 Publications

Miscellaneous

The alpha subunit binds strychnine.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Channel activity is potentiated by nanomolar concentrations of Zn2+; half-maximal activation is observed with 37 nM Zn2+ (PubMed:16144831). Inhibited by higher Zn2+ levels; haf-maximal inhibition occurs at 20 µM Zn2+ (PubMed:16144831). Inhibited by strychnine (PubMed:2155780, PubMed:16144831, PubMed:25445488). Inhibited by lindane (PubMed:25445488). Inhibited by picrotoxin (PubMed:22715885, PubMed:23994010, PubMed:25730860). Strychnine binding locks the channel in a closed conformation and prevents channel opening in response to extracellular glycine (By similarity).By similarity6 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

A concentration of about 0.02 mM glycine results in half-maximal channel conductance for homopentamers. A concentration of 0.018 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:9009272). A concentration of 0.027 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:7920629).2 Publications

      Sites

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi220Zinc1 Publication1
      Metal bindingi222Zinc1 Publication1
      Metal bindingi243Zinc1 Publication1
      <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>Sitei289Important for obstruction of the ion pore in the closed conformation1 Publication1

      <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 functionChloride channel, Ion channel, Ligand-gated ion channel, Receptor
      Biological processIon transport, Transport
      LigandChloride, Metal-binding, Zinc

      Enzyme and pathway databases

      Reactome - a knowledgebase of biological pathways and processes

      More...
      Reactomei
      R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission

      SIGNOR Signaling Network Open Resource

      More...
      SIGNORi
      P23415

      Protein family/group databases

      Transport Classification Database

      More...
      TCDBi
      1.A.9.3.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

      <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:
      Glycine receptor subunit alpha-1
      Alternative name(s):
      Glycine receptor 48 kDa subunit
      Glycine receptor strychnine-binding subunit
      <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:GLRA1
      <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 5

      Organism-specific databases

      Human Gene Nomenclature Database

      More...
      HGNCi
      HGNC:4326 GLRA1

      Online Mendelian Inheritance in Man (OMIM)

      More...
      MIMi
      138491 gene

      neXtProt; the human protein knowledge platform

      More...
      neXtProti
      NX_P23415

      <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

      Topology

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini29 – 250ExtracellularCuratedAdd BLAST222
      <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei251 – 272Helical; Name=12 PublicationsAdd BLAST22
      Topological domaini273 – 277Cytoplasmic2 Publications5
      Transmembranei278 – 298Helical; Name=22 PublicationsAdd BLAST21
      Topological domaini299 – 309Extracellular2 PublicationsAdd BLAST11
      Transmembranei310 – 330Helical; Name=32 PublicationsAdd BLAST21
      Topological domaini331 – 425Cytoplasmic1 PublicationAdd BLAST95
      Transmembranei426 – 446Helical; Name=41 PublicationAdd BLAST21
      Topological domaini447 – 457ExtracellularCuratedAdd BLAST11

      Keywords - Cellular componenti

      Cell junction, Cell membrane, Cell projection, Membrane, Postsynaptic cell membrane, 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

      Hyperekplexia 1 (HKPX1)14 Publications
      The disease is caused by mutations affecting the gene represented in this entry.
      Disease descriptionA neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.
      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_07541893R → W in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with S-258. 1 PublicationCorresponds to variant dbSNP:rs199547699EnsemblClinVar.1
      Natural variantiVAR_075419100R → C in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication1
      Natural variantiVAR_075420246R → W in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 PublicationCorresponds to variant dbSNP:rs751659671Ensembl.1
      Natural variantiVAR_075421254Q → E in HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075422258P → S in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with W-93. 1 Publication1
      Natural variantiVAR_000296272I → N in HKPX1; requires much higher glycine levels for channel activation. 2 PublicationsCorresponds to variant dbSNP:rs121918409EnsemblClinVar.1
      Natural variantiVAR_010112278P → T in HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization. 2 PublicationsCorresponds to variant dbSNP:rs121918413EnsemblClinVar.1
      Natural variantiVAR_010113280R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864918EnsemblClinVar.1
      Natural variantiVAR_000297294Q → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs121918411EnsemblClinVar.1
      Natural variantiVAR_000298299R → L in HKPX1; requires much higher glycine levels for channel activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408EnsemblClinVar.1
      Natural variantiVAR_000299299R → Q in HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408EnsemblClinVar.1
      Natural variantiVAR_000300304K → E in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918412EnsemblClinVar.1
      Natural variantiVAR_000301307Y → C in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918410EnsemblClinVar.1
      Natural variantiVAR_075423308V → M in HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075424319L → P in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with A-424. 1 Publication1
      Natural variantiVAR_075425424D → A in HKPX1; abolishes expression at the cell membrane; compound heterozygote with P-319. 1 Publication1
      Natural variantiVAR_010114428R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864919EnsemblClinVar.1
      Natural variantiVAR_075426450R → H in HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening. 1 PublicationCorresponds to variant dbSNP:rs200130685EnsemblClinVar.1

      Mutagenesis

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi80A → S: The mutant channel requires much higher glycine concentrations for activation. 1 Publication1
      Mutagenesisi137H → F: Abolishes sensitivity of channel activity to potentiation or inhibition by Zn(2+); when associated with K-222. 1 Publication1
      Mutagenesisi137H → N: Strongly decreases sensitivity to inhibition by Zn(2+). 1 Publication1
      Mutagenesisi220E → A: Abolishes potentiation of channel activity by Zn(2+). 1 Publication1
      Mutagenesisi222D → A: Abolishes potentiation of channel activity by Zn(2+). 1 Publication1
      Mutagenesisi222D → K: Abolishes sensitivity of channel activity to potentiation or inhibition by Zn(2+); when associated with F-137. 1 Publication1
      Mutagenesisi243H → A: Strongly decreases potentiation of channel activity by Zn(2+). 1 Publication1
      Mutagenesisi282G → A: Increased single-channel conductance. No effect on glycine sensitivity, but decreased rate of activation. 1 Publication1
      Mutagenesisi304K → C: Decreases channel conductance; the mutant channel requires much higher glycine concentrations for activation. 1 Publication1

      Keywords - Diseasei

      Disease mutation

      Organism-specific databases

      DisGeNET

      More...
      DisGeNETi
      2741

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

      More...
      GeneReviewsi
      GLRA1

      MalaCards human disease database

      More...
      MalaCardsi
      GLRA1
      MIMi149400 phenotype

      Open Targets

      More...
      OpenTargetsi
      ENSG00000145888

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

      More...
      Orphaneti
      3197 Hereditary hyperekplexia

      The Pharmacogenetics and Pharmacogenomics Knowledge Base

      More...
      PharmGKBi
      PA28727

      Miscellaneous databases

      Pharos NIH Druggable Genome Knowledgebase

      More...
      Pharosi
      P23415

      Chemistry databases

      ChEMBL database of bioactive drug-like small molecules

      More...
      ChEMBLi
      CHEMBL5845

      Drug and drug target database

      More...
      DrugBanki
      DB00572 Atropine
      DB09061 Cannabidiol
      DB09130 Copper
      DB03929 D-Serine
      DB01189 Desflurane
      DB00228 Enflurane
      DB00898 Ethanol
      DB01381 Ginkgo biloba
      DB00145 Glycine
      DB05417 GW 468816
      DB01159 Halothane
      DB00753 Isoflurane
      DB00431 Lindane
      DB14009 Medical Cannabis
      DB01028 Methoxyflurane
      DB14011 Nabiximols
      DB00466 Picrotoxin
      DB05885 Seletracetam
      DB01236 Sevoflurane
      DB01956 Taurine
      DB11582 Thiocolchicoside
      DB01593 Zinc
      DB14487 Zinc acetate
      DB14533 Zinc chloride

      DrugCentral

      More...
      DrugCentrali
      P23415

      IUPHAR/BPS Guide to PHARMACOLOGY

      More...
      GuidetoPHARMACOLOGYi
      423

      Polymorphism and mutation databases

      BioMuta curated single-nucleotide variation and disease association database

      More...
      BioMutai
      GLRA1

      Domain mapping of disease mutations (DMDM)

      More...
      DMDMi
      116242495

      <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 – 28Sequence analysisBy similarityAdd BLAST28
      <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_000000041229 – 457Glycine receptor subunit alpha-1Add BLAST429

      Amino acid modifications

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      <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>Glycosylationi66N-linked (GlcNAc...) asparagineCurated1
      <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 bondi166 ↔ 1801 Publication
      Disulfide bondi226 ↔ 2371 Publication

      Keywords - PTMi

      Disulfide bond, Glycoprotein

      Proteomic databases

      jPOST - Japan Proteome Standard Repository/Database

      More...
      jPOSTi
      P23415

      MassIVE - Mass Spectrometry Interactive Virtual Environment

      More...
      MassIVEi
      P23415

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

      More...
      PaxDbi
      P23415

      PeptideAtlas

      More...
      PeptideAtlasi
      P23415

      PRoteomics IDEntifications database

      More...
      PRIDEi
      P23415

      ProteomicsDB: a multi-organism proteome resource

      More...
      ProteomicsDBi
      54089 [P23415-1]
      54090 [P23415-2]

      PTM databases

      iPTMnet integrated resource for PTMs in systems biology context

      More...
      iPTMneti
      P23415

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

      More...
      PhosphoSitePlusi
      P23415

      <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

      Gene expression databases

      Bgee dataBase for Gene Expression Evolution

      More...
      Bgeei
      ENSG00000145888 Expressed in 21 organ(s), highest expression level in hypothalamus

      ExpressionAtlas, Differential and Baseline Expression

      More...
      ExpressionAtlasi
      P23415 baseline and differential

      Genevisible search portal to normalized and curated expression data from Genevestigator

      More...
      Genevisiblei
      P23415 HS

      Organism-specific databases

      Human Protein Atlas

      More...
      HPAi
      CAB079042
      HPA016502

      <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

      Homopentamer (in vitro) (PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25730860).

      Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed:22715885, PubMed:22973015, PubMed:25445488). Heteropentamer composed of two GLRA1 and three GLRB (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed:22973015). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:14551753, PubMed:22715885, PubMed:22973015, PubMed:25445488, PubMed:23994010, PubMed:25730860).

      6 Publications

      GO - Molecular functioni

      Protein-protein interaction databases

      CORUM comprehensive resource of mammalian protein complexes

      More...
      CORUMi
      P23415

      Database of interacting proteins

      More...
      DIPi
      DIP-48768N

      Protein interaction database and analysis system

      More...
      IntActi
      P23415, 2 interactors

      STRING: functional protein association networks

      More...
      STRINGi
      9606.ENSP00000411593

      <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

      1457
      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

      More...
      SMRi
      P23415

      Database of comparative protein structure models

      More...
      ModBasei
      Search...

      Protein Data Bank in Europe - Knowledge Base

      More...
      PDBe-KBi
      Search...

      Miscellaneous databases

      Relative evolutionary importance of amino acids within a protein sequence

      More...
      EvolutionaryTracei
      P23415

      <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

      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>Regioni230 – 235Strychnine-bindingBy similarity6

      <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 channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. In the absence of the extracellular domain, the channel is in a constitutively open conformation (PubMed:23994010). Channel opening is effected by an outward rotation of the transmembrane domains that increases the diameter of the pore (By similarity).By similarity1 Publication

      <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

      Keywords - Domaini

      Signal, Transmembrane, Transmembrane helix

      Phylogenomic databases

      evolutionary genealogy of genes: Non-supervised Orthologous Groups

      More...
      eggNOGi
      KOG3643 Eukaryota
      ENOG410XPWH LUCA

      Ensembl GeneTree

      More...
      GeneTreei
      ENSGT00940000159047

      The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

      More...
      HOGENOMi
      HOG000231336

      InParanoid: Eukaryotic Ortholog Groups

      More...
      InParanoidi
      P23415

      KEGG Orthology (KO)

      More...
      KOi
      K05193

      Identification of Orthologs from Complete Genome Data

      More...
      OMAi
      FNFAYGM

      Database of Orthologous Groups

      More...
      OrthoDBi
      614790at2759

      Database for complete collections of gene phylogenies

      More...
      PhylomeDBi
      P23415

      TreeFam database of animal gene trees

      More...
      TreeFami
      TF315453

      Family and domain databases

      Gene3D Structural and Functional Annotation of Protein Families

      More...
      Gene3Di
      2.70.170.10, 1 hit

      Integrated resource of protein families, domains and functional sites

      More...
      InterProi
      View protein in InterPro
      IPR006028 GABAA/Glycine_rcpt
      IPR008127 Glycine_rcpt_A
      IPR008128 Glycine_rcpt_A1
      IPR006202 Neur_chan_lig-bd
      IPR036734 Neur_chan_lig-bd_sf
      IPR006201 Neur_channel
      IPR036719 Neuro-gated_channel_TM_sf
      IPR006029 Neurotrans-gated_channel_TM
      IPR018000 Neurotransmitter_ion_chnl_CS

      The PANTHER Classification System

      More...
      PANTHERi
      PTHR18945 PTHR18945, 1 hit

      Pfam protein domain database

      More...
      Pfami
      View protein in Pfam
      PF02931 Neur_chan_LBD, 1 hit
      PF02932 Neur_chan_memb, 1 hit

      Protein Motif fingerprint database; a protein domain database

      More...
      PRINTSi
      PR00253 GABAARECEPTR
      PR01673 GLYRALPHA
      PR01674 GLYRALPHA1
      PR00252 NRIONCHANNEL

      Superfamily database of structural and functional annotation

      More...
      SUPFAMi
      SSF63712 SSF63712, 1 hit
      SSF90112 SSF90112, 1 hit

      TIGRFAMs; a protein family database

      More...
      TIGRFAMsi
      TIGR00860 LIC, 1 hit

      PROSITE; a protein domain and family database

      More...
      PROSITEi
      View protein in PROSITE
      PS00236 NEUROTR_ION_CHANNEL, 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 (2+)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 2 <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

      This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

      Isoform a (identifier: P23415-1) [UniParc]FASTAAdd to basket

      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
      MYSFNTLRLY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS
      60 70 80 90 100
      GYDARIRPNF KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR
      110 120 130 140 150
      LAYNEYPDDS LDLDPSMLDS IWKPDLFFAN EKGAHFHEIT TDNKLLRISR
      160 170 180 190 200
      NGNVLYSIRI TLTLACPMDL KNFPMDVQTC IMQLESFGYT MNDLIFEWQE
      210 220 230 240 250
      QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA RFHLERQMGY
      260 270 280 290 300
      YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA
      310 320 330 340 350
      SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR
      360 370 380 390 400
      HHKSPMLNLF QEDEAGEGRF NFSAYGMGPA CLQAKDGISV KGANNSNTTN
      410 420 430 440 450
      PPPAPSKSPE EMRKLFIQRA KKIDKISRIG FPMAFLIFNM FYWIIYKIVR

      REDVHNQ
      Length:457
      Mass (Da):52,624
      Last modified:October 17, 2006 - v2
      <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:i5ED80AF62B06A3AA
      GO
      Isoform b (identifier: P23415-2) [UniParc]FASTAAdd to basket

      The sequence of this isoform differs from the canonical sequence as follows:
           354-361: Missing.

      Show »
      Length:449
      Mass (Da):51,693
      Checksum:i8F6EEB28634E2A94
      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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
      EntryEntry nameProtein names
      Gene namesLengthAnnotation
      E5RJ70E5RJ70_HUMAN
      Glycine receptor subunit alpha-1
      GLRA1
      37Annotation 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>

      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 conflicti12 – 14WET → SGA in CAA36258 (PubMed:2155780).Curated3
      Sequence conflicti33P → T in CAA36258 (PubMed:2155780).Curated1

      Natural variant

      Feature keyPosition(s)DescriptionActionsGraphical viewLength
      Natural variantiVAR_07541893R → W in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with S-258. 1 PublicationCorresponds to variant dbSNP:rs199547699EnsemblClinVar.1
      Natural variantiVAR_075419100R → C in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 Publication1
      Natural variantiVAR_075420246R → W in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation. 1 PublicationCorresponds to variant dbSNP:rs751659671Ensembl.1
      Natural variantiVAR_075421254Q → E in HKPX1; strongly increases sensitivity to extracellular glycine; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075422258P → S in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with W-93. 1 Publication1
      Natural variantiVAR_000296272I → N in HKPX1; requires much higher glycine levels for channel activation. 2 PublicationsCorresponds to variant dbSNP:rs121918409EnsemblClinVar.1
      Natural variantiVAR_010112278P → T in HKPX1; requires much higher glycine levels for channel activation and displays an increased rate of desensitization. 2 PublicationsCorresponds to variant dbSNP:rs121918413EnsemblClinVar.1
      Natural variantiVAR_010113280R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864918EnsemblClinVar.1
      Natural variantiVAR_000297294Q → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs121918411EnsemblClinVar.1
      Natural variantiVAR_000298299R → L in HKPX1; requires much higher glycine levels for channel activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408EnsemblClinVar.1
      Natural variantiVAR_000299299R → Q in HKPX1; decreases unitary channel conductance and requires much higher glycine concentrations for activation. 4 PublicationsCorresponds to variant dbSNP:rs121918408EnsemblClinVar.1
      Natural variantiVAR_000300304K → E in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918412EnsemblClinVar.1
      Natural variantiVAR_000301307Y → C in HKPX1; requires much higher glycine levels for channel activation. 3 PublicationsCorresponds to variant dbSNP:rs121918410EnsemblClinVar.1
      Natural variantiVAR_075423308V → M in HKPX1; high leak currents in the absence of glycine due to spontaneous channel opening. 2 Publications1
      Natural variantiVAR_075424319L → P in HKPX1; impairs expression at the cell membrane; requires much higher glycine levels for channel activation; compound heterozygote with A-424. 1 Publication1
      Natural variantiVAR_075425424D → A in HKPX1; abolishes expression at the cell membrane; compound heterozygote with P-319. 1 Publication1
      Natural variantiVAR_010114428R → H in HKPX1. 1 PublicationCorresponds to variant dbSNP:rs281864919EnsemblClinVar.1
      Natural variantiVAR_075426450R → H in HKPX1; displays leak currents in the absence of glycine due to spontaneous channel opening. 1 PublicationCorresponds to variant dbSNP:rs200130685EnsemblClinVar.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_021142354 – 361Missing in isoform b. 3 Publications8

      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
      X52009 mRNA Translation: CAA36258.1
      AK312702 mRNA Translation: BAG35580.1
      CH471062 Genomic DNA Translation: EAW61657.1
      BC074980 mRNA Translation: AAH74980.1
      BC114947 mRNA Translation: AAI14948.1

      The Consensus CDS (CCDS) project

      More...
      CCDSi
      CCDS4320.1 [P23415-2]
      CCDS54942.1 [P23415-1]

      Protein sequence database of the Protein Information Resource

      More...
      PIRi
      S12382

      NCBI Reference Sequences

      More...
      RefSeqi
      NP_000162.2, NM_000171.3 [P23415-2]
      NP_001139512.1, NM_001146040.1 [P23415-1]

      Genome annotation databases

      Ensembl eukaryotic genome annotation project

      More...
      Ensembli
      ENST00000274576; ENSP00000274576; ENSG00000145888 [P23415-2]
      ENST00000455880; ENSP00000411593; ENSG00000145888 [P23415-1]

      Database of genes from NCBI RefSeq genomes

      More...
      GeneIDi
      2741

      KEGG: Kyoto Encyclopedia of Genes and Genomes

      More...
      KEGGi
      hsa:2741

      UCSC genome browser

      More...
      UCSCi
      uc003lur.4 human [P23415-1]

      Keywords - Coding sequence diversityi

      Alternative splicing

      <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

      Sequence databases

      Select the link destinations:
      EMBLi
      GenBanki
      DDBJi
      Links Updated
      X52009 mRNA Translation: CAA36258.1
      AK312702 mRNA Translation: BAG35580.1
      CH471062 Genomic DNA Translation: EAW61657.1
      BC074980 mRNA Translation: AAH74980.1
      BC114947 mRNA Translation: AAI14948.1
      CCDSiCCDS4320.1 [P23415-2]
      CCDS54942.1 [P23415-1]
      PIRiS12382
      RefSeqiNP_000162.2, NM_000171.3 [P23415-2]
      NP_001139512.1, NM_001146040.1 [P23415-1]

      3D structure databases

      Select the link destinations:

      Protein Data Bank Europe

      More...
      PDBei

      Protein Data Bank RCSB

      More...
      RCSB PDBi

      Protein Data Bank Japan

      More...
      PDBji
      Links Updated
      PDB entryMethodResolution (Å)ChainPositionsPDBsum
      1MOTNMR-A277-304[»]
      1VRYNMR-A278-337[»]
      2M6BNMR-A244-453[»]
      2M6INMR-A/B/C/D/E244-453[»]
      4X5TX-ray3.50A/B/C/D/E246-338[»]
      A/B/C/D/E418-446[»]
      SMRiP23415
      ModBaseiSearch...
      PDBe-KBiSearch...

      Protein-protein interaction databases

      CORUMiP23415
      DIPiDIP-48768N
      IntActiP23415, 2 interactors
      STRINGi9606.ENSP00000411593

      Chemistry databases

      ChEMBLiCHEMBL5845
      DrugBankiDB00572 Atropine
      DB09061 Cannabidiol
      DB09130 Copper
      DB03929 D-Serine
      DB01189 Desflurane
      DB00228 Enflurane
      DB00898 Ethanol
      DB01381 Ginkgo biloba
      DB00145 Glycine
      DB05417 GW 468816
      DB01159 Halothane
      DB00753 Isoflurane
      DB00431 Lindane
      DB14009 Medical Cannabis
      DB01028 Methoxyflurane
      DB14011 Nabiximols
      DB00466 Picrotoxin
      DB05885 Seletracetam
      DB01236 Sevoflurane
      DB01956 Taurine
      DB11582 Thiocolchicoside
      DB01593 Zinc
      DB14487 Zinc acetate
      DB14533 Zinc chloride
      DrugCentraliP23415
      GuidetoPHARMACOLOGYi423

      Protein family/group databases

      TCDBi1.A.9.3.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

      PTM databases

      iPTMnetiP23415
      PhosphoSitePlusiP23415

      Polymorphism and mutation databases

      BioMutaiGLRA1
      DMDMi116242495

      Proteomic databases

      jPOSTiP23415
      MassIVEiP23415
      PaxDbiP23415
      PeptideAtlasiP23415
      PRIDEiP23415
      ProteomicsDBi54089 [P23415-1]
      54090 [P23415-2]

      Genome annotation databases

      EnsembliENST00000274576; ENSP00000274576; ENSG00000145888 [P23415-2]
      ENST00000455880; ENSP00000411593; ENSG00000145888 [P23415-1]
      GeneIDi2741
      KEGGihsa:2741
      UCSCiuc003lur.4 human [P23415-1]

      Organism-specific databases

      Comparative Toxicogenomics Database

      More...
      CTDi
      2741
      DisGeNETi2741

      GeneCards: human genes, protein and diseases

      More...
      GeneCardsi
      GLRA1
      GeneReviewsiGLRA1
      HGNCiHGNC:4326 GLRA1
      HPAiCAB079042
      HPA016502
      MalaCardsiGLRA1
      MIMi138491 gene
      149400 phenotype
      neXtProtiNX_P23415
      OpenTargetsiENSG00000145888
      Orphaneti3197 Hereditary hyperekplexia
      PharmGKBiPA28727

      GenAtlas: human gene database

      More...
      GenAtlasi
      Search...

      Phylogenomic databases

      eggNOGiKOG3643 Eukaryota
      ENOG410XPWH LUCA
      GeneTreeiENSGT00940000159047
      HOGENOMiHOG000231336
      InParanoidiP23415
      KOiK05193
      OMAiFNFAYGM
      OrthoDBi614790at2759
      PhylomeDBiP23415
      TreeFamiTF315453

      Enzyme and pathway databases

      ReactomeiR-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
      SIGNORiP23415

      Miscellaneous databases

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

      More...
      ChiTaRSi
      GLRA1 human
      EvolutionaryTraceiP23415

      The Gene Wiki collection of pages on human genes and proteins

      More...
      GeneWikii
      Glycine_receptor,_alpha_1

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

      More...
      GenomeRNAii
      2741
      PharosiP23415

      Protein Ontology

      More...
      PROi
      PR:P23415

      The Stanford Online Universal Resource for Clones and ESTs

      More...
      SOURCEi
      Search...

      Gene expression databases

      BgeeiENSG00000145888 Expressed in 21 organ(s), highest expression level in hypothalamus
      ExpressionAtlasiP23415 baseline and differential
      GenevisibleiP23415 HS

      Family and domain databases

      Gene3Di2.70.170.10, 1 hit
      InterProiView protein in InterPro
      IPR006028 GABAA/Glycine_rcpt
      IPR008127 Glycine_rcpt_A
      IPR008128 Glycine_rcpt_A1
      IPR006202 Neur_chan_lig-bd
      IPR036734 Neur_chan_lig-bd_sf
      IPR006201 Neur_channel
      IPR036719 Neuro-gated_channel_TM_sf
      IPR006029 Neurotrans-gated_channel_TM
      IPR018000 Neurotransmitter_ion_chnl_CS
      PANTHERiPTHR18945 PTHR18945, 1 hit
      PfamiView protein in Pfam
      PF02931 Neur_chan_LBD, 1 hit
      PF02932 Neur_chan_memb, 1 hit
      PRINTSiPR00253 GABAARECEPTR
      PR01673 GLYRALPHA
      PR01674 GLYRALPHA1
      PR00252 NRIONCHANNEL
      SUPFAMiSSF63712 SSF63712, 1 hit
      SSF90112 SSF90112, 1 hit
      TIGRFAMsiTIGR00860 LIC, 1 hit
      PROSITEiView protein in PROSITE
      PS00236 NEUROTR_ION_CHANNEL, 1 hit

      ProtoNet; Automatic hierarchical classification of proteins

      More...
      ProtoNeti
      Search...

      MobiDB: a database of protein disorder and mobility annotations

      More...
      MobiDBi
      Search...

      <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 nameiGLRA1_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: P23415
      Secondary accession number(s): B2R6T3, Q14C77, Q6DJV9
      <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: November 1, 1991
      Last sequence update: October 17, 2006
      Last modified: November 13, 2019
      This is version 207 of the entry and version 2 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

      3D-structure, Complete proteome, Reference proteome

      Documents

      1. Human entries with polymorphisms or disease mutations
        List of human entries with polymorphisms or disease mutations
      2. SIMILARITY comments
        Index of protein domains and families
      3. Human chromosome 5
        Human chromosome 5: entries, gene names and cross-references to MIM
      4. Human polymorphisms and disease mutations
        Index of human polymorphisms and disease mutations
      5. MIM cross-references
        Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
      6. PDB cross-references
        Index of Protein Data Bank (PDB) cross-references
      UniProt is an ELIXIR core data resource
      Main funding by: National Institutes of Health

      We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

      Do not show this banner again