Gap junction alpha-5 protein

<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

<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

• connexin binding Source: Ensembl
• disordered domain specific binding Source: Ensembl
• gap junction channel activity Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.8

    "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
    Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X., Veinot J.P., Tang A.S., Stewart A.F., Tesson F., Klein G.J., Yee R., Skanes A.C., Guiraudon G.M., Ebihara L., Bai D.
    N. Engl. J. Med. 354:2677-2688(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ATRST1 SER-88 AND SER-96.
  • "Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue."
    Thibodeau I.L., Xu J., Li Q., Liu G., Lam K., Veinot J.P., Birnie D.H., Jones D.L., Krahn A.D., Lemery R., Nicholson B.J., Gollob M.H.
    Circulation 122:236-244(2010) [PubMed] [Europe PMC] [Abstract]
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• gap junction channel activity involved in cardiac conduction electrical coupling Source: BHF-UCLInferred from direct assayⁱ
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling Source: BHF-UCL <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • "Basic mechanisms of cardiac impulse propagation and associated arrhythmias."
    Kleber A.G., Rudy Y.
    Physiol Rev 84:431-488(2004) [PubMed] [Europe PMC] [Abstract]
• gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling Source: BHF-UCLNon-traceable author statementⁱ
  • "Basic mechanisms of cardiac impulse propagation and associated arrhythmias."
    Kleber A.G., Rudy Y.
    Physiol Rev 84:431-488(2004) [PubMed] [Europe PMC] [Abstract]
  • "The cardiac conduction system."
    Park D.S., Fishman G.I.
    Circulation 123:904-915(2011) [PubMed] [Europe PMC] [Abstract]
• gap junction hemi-channel activity Source: BHF-UCLInferred from direct assayⁱ
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• angiogenesis Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "Identification of endothelial cell genes expressed in an in vitro model of angiogenesis: induction of ESM-1, (beta)ig-h3, and NrCAM."
    Aitkenhead M., Wang S.J., Nakatsu M.N., Mestas J., Heard C., Hughes C.C.
    Microvasc Res 63:159-171(2002) [PubMed] [Europe PMC] [Abstract]
• artery morphogenesis Source: BHF-UCL
• atrial cardiac muscle cell to AV node cell communication by electrical coupling Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.8

    "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
    Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X., Veinot J.P., Tang A.S., Stewart A.F., Tesson F., Klein G.J., Yee R., Skanes A.C., Guiraudon G.M., Ebihara L., Bai D.
    N. Engl. J. Med. 354:2677-2688(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ATRST1 SER-88 AND SER-96.
  • "Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue."
    Thibodeau I.L., Xu J., Li Q., Liu G., Lam K., Veinot J.P., Birnie D.H., Jones D.L., Krahn A.D., Lemery R., Nicholson B.J., Gollob M.H.
    Circulation 122:236-244(2010) [PubMed] [Europe PMC] [Abstract]
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• atrial septum development Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls."
    Soemedi R., Topf A., Wilson I.J., Darlay R., Rahman T., Glen E., Hall D., Huang N., Bentham J., Bhattacharya S., Cosgrove C., Brook J.D., Granados-Riveron J., Setchfield K., Bu'lock F., Thornborough C., Devriendt K., Breckpot J.

    , Hofbeck M., Lathrop M., Rauch A., Blue G.M., Winlaw D.S., Hurles M., Santibanez-Koref M., Cordell H.J., Goodship J.A., Keavney B.D.
    Hum Mol Genet 21:1513-1520(2012) [PubMed] [Europe PMC] [Abstract]
• AV node cell to bundle of His cell communication by electrical coupling Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• bundle of His cell to Purkinje myocyte communication by electrical coupling Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• cardiac conduction system development Source: BHF-UCL
• cell-cell signaling Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cell communication by chemical coupling Source: Ensembl
• cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCLInferred from direct assayⁱ
  • Ref.8

    "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
    Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X., Veinot J.P., Tang A.S., Stewart A.F., Tesson F., Klein G.J., Yee R., Skanes A.C., Guiraudon G.M., Ebihara L., Bai D.
    N. Engl. J. Med. 354:2677-2688(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ATRST1 SER-88 AND SER-96.
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• endothelium development Source: Ensembl
• gap junction assembly Source: BHF-UCLInferred from direct assayⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• mitral valve development Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls."
    Soemedi R., Topf A., Wilson I.J., Darlay R., Rahman T., Glen E., Hall D., Huang N., Bentham J., Bhattacharya S., Cosgrove C., Brook J.D., Granados-Riveron J., Setchfield K., Bu'lock F., Thornborough C., Devriendt K., Breckpot J.

    , Hofbeck M., Lathrop M., Rauch A., Blue G.M., Winlaw D.S., Hurles M., Santibanez-Koref M., Cordell H.J., Goodship J.A., Keavney B.D.
    Hum Mol Genet 21:1513-1520(2012) [PubMed] [Europe PMC] [Abstract]
• negative regulation of blood pressure Source: Ensembl
• negative regulation of glomerular filtration Source: Ensembl
• outflow tract morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls."
    Soemedi R., Topf A., Wilson I.J., Darlay R., Rahman T., Glen E., Hall D., Huang N., Bentham J., Bhattacharya S., Cosgrove C., Brook J.D., Granados-Riveron J., Setchfield K., Bu'lock F., Thornborough C., Devriendt K., Breckpot J.

    , Hofbeck M., Lathrop M., Rauch A., Blue G.M., Winlaw D.S., Hurles M., Santibanez-Koref M., Cordell H.J., Goodship J.A., Keavney B.D.
    Hum Mol Genet 21:1513-1520(2012) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell communication by chemical coupling Source: Ensembl
• positive regulation of vasoconstriction Source: Ensembl
• potassium ion transport Source: Ensembl
• pulmonary valve formation Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls."
    Soemedi R., Topf A., Wilson I.J., Darlay R., Rahman T., Glen E., Hall D., Huang N., Bentham J., Bhattacharya S., Cosgrove C., Brook J.D., Granados-Riveron J., Setchfield K., Bu'lock F., Thornborough C., Devriendt K., Breckpot J.

    , Hofbeck M., Lathrop M., Rauch A., Blue G.M., Winlaw D.S., Hurles M., Santibanez-Koref M., Cordell H.J., Goodship J.A., Keavney B.D.
    Hum Mol Genet 21:1513-1520(2012) [PubMed] [Europe PMC] [Abstract]
• Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling Source: BHF-UCLNon-traceable author statementⁱ
  • "Basic mechanisms of cardiac impulse propagation and associated arrhythmias."
    Kleber A.G., Rudy Y.
    Physiol Rev 84:431-488(2004) [PubMed] [Europe PMC] [Abstract]
• regulation of atrial cardiac muscle cell action potential Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of AV node cell action potential Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• regulation of bundle of His cell action potential Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• regulation of cardiac muscle contraction Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.8

    "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
    Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X., Veinot J.P., Tang A.S., Stewart A.F., Tesson F., Klein G.J., Yee R., Skanes A.C., Guiraudon G.M., Ebihara L., Bai D.
    N. Engl. J. Med. 354:2677-2688(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ATRST1 SER-88 AND SER-96.
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
  • "Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication."
    Sun Y., Yang Y.Q., Gong X.Q., Wang X.H., Li R.G., Tan H.W., Liu X., Fang W.Y., Bai D.
    Hum Mutat 34:603-609(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of cell communication by electrical coupling Source: Ensembl
• regulation of Purkinje myocyte action potential Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A connexin40 mutation associated with a malignant variant of progressive familial heart block type I."
    Makita N., Seki A., Sumitomo N., Chkourko H., Fukuhara S., Watanabe H., Shimizu W., Bezzina C.R., Hasdemir C., Mugishima H., Makiyama T., Baruteau A., Baron E., Horie M., Hagiwara N., Wilde A.A., Probst V., Le Marec H.

    , Roden D.M., Mochizuki N., Schott J.J., Delmar M.
    Circ Arrhythm Electrophysiol 5:163-172(2012) [PubMed] [Europe PMC] [Abstract]
• regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
• regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
• SA node cell to atrial cardiac muscle cell communication by electrical coupling Source: BHF-UCLNon-traceable author statementⁱ
  • "Basic mechanisms of cardiac impulse propagation and associated arrhythmias."
    Kleber A.G., Rudy Y.
    Physiol Rev 84:431-488(2004) [PubMed] [Europe PMC] [Abstract]
  • "The cardiac conduction system."
    Park D.S., Fishman G.I.
    Circulation 123:904-915(2011) [PubMed] [Europe PMC] [Abstract]
• vasomotion Source: Ensembl
• ventricular septum development Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls."
    Soemedi R., Topf A., Wilson I.J., Darlay R., Rahman T., Glen E., Hall D., Huang N., Bentham J., Bhattacharya S., Cosgrove C., Brook J.D., Granados-Riveron J., Setchfield K., Bu'lock F., Thornborough C., Devriendt K., Breckpot J.

    , Hofbeck M., Lathrop M., Rauch A., Blue G.M., Winlaw D.S., Hurles M., Santibanez-Koref M., Cordell H.J., Goodship J.A., Keavney B.D.
    Hum Mol Genet 21:1513-1520(2012) [PubMed] [Europe PMC] [Abstract]

Enzyme and pathway databases

Protein family/group databases

<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

Organism-specific databases

<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

• UniProt annotation
• GO - Cellular component

Topology

<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

<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

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<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

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<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

Organism-specific databases

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• connexin binding Source: Ensembl
• disordered domain specific binding Source: Ensembl

Protein-protein interaction databases

Miscellaneous databases

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

3D structure databases

<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

Compositional bias

<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

Phylogenomic databases

Family and domain databases

<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%5Flength">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>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MGDWSFLGNF LEEVHKHSTV VGKVWLTVLF IFRMLVLGTA AESSWGDEQA 
        60         70         80         90        100
DFRCDTIQPG CQNVCYDQAF PISHIRYWVL QIIFVSTPSL VYMGHAMHTV 
       110        120        130        140        150
RMQEKRKLRE AERAKEVRGS GSYEYPVAEK AELSCWEEGN GRIALQGTLL 
       160        170        180        190        200
NTYVCSILIR TTMEVGFIVG QYFIYGIFLT TLHVCRRSPC PHPVNCYVSR 
       210        220        230        240        250
PTEKNVFIVF MLAVAALSLL LSLAELYHLG WKKIRQRFVK PRQHMAKCQL 
       260        270        280        290        300
SGPSVGIVQS CTPPPDFNQC LENGPGGKFF NPFSNNMASQ QNTDNLVTEQ 
       310        320        330        340        350
VRGQEQTPGE GFIQVRYGQK PEVPNGVSPG HRLPHGYHSD KRRLSKASSK 

ARSDDLSV                                               

Natural variant

Sequence databases

Genome annotation databases

<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

• 100% Identity
• 90% Identity
• 50% Identity

<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

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

1. Human chromosome 1
   Human chromosome 1: entries, gene names and cross-references to MIM
2. Human entries with genetic variants
   List of human entries with genetic variants
3. Human variants curated from literature reports
   Index of human variants curated from literature reports
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. SIMILARITY comments
   Index of protein domains and families