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P36382

- CXA5_HUMAN

UniProt

P36382 - CXA5_HUMAN

Protein

Gap junction alpha-5 protein

Gene

GJA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

    GO - Molecular functioni

    1. gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling Source: BHF-UCL
    2. gap junction channel activity involved in cardiac conduction electrical coupling Source: BHF-UCL
    3. gap junction hemi-channel activity Source: BHF-UCL

    GO - Biological processi

    1. angiogenesis Source: UniProtKB
    2. artery morphogenesis Source: BHF-UCL
    3. atrial cardiac muscle cell action potential Source: BHF-UCL
    4. atrial septum development Source: BHF-UCL
    5. atrial septum morphogenesis Source: Ensembl
    6. atrial ventricular junction remodeling Source: Ensembl
    7. AV node cell to bundle of His cell communication by electrical coupling Source: BHF-UCL
    8. bundle of His cell to Purkinje myocyte communication Source: BHF-UCL
    9. cardiac conduction system development Source: Ensembl
    10. cell communication by chemical coupling Source: Ensembl
    11. cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
    12. embryonic heart tube development Source: Ensembl
    13. embryonic limb morphogenesis Source: Ensembl
    14. endothelium development Source: Ensembl
    15. foramen ovale closure Source: Ensembl
    16. gap junction assembly Source: BHF-UCL
    17. mitral valve development Source: BHF-UCL
    18. negative regulation of blood pressure Source: Ensembl
    19. negative regulation of glomerular filtration Source: Ensembl
    20. outflow tract morphogenesis Source: BHF-UCL
    21. positive regulation of cell communication by chemical coupling Source: Ensembl
    22. positive regulation of vasoconstriction Source: Ensembl
    23. positive regulation of vasodilation Source: Ensembl
    24. potassium ion transport Source: Ensembl
    25. protein oligomerization Source: Ensembl
    26. pulmonary valve formation Source: BHF-UCL
    27. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
    28. regulation of cardiac muscle contraction Source: BHF-UCL
    29. regulation of heart rate by cardiac conduction Source: Ensembl
    30. regulation of membrane depolarization during cardiac muscle cell action potential Source: Ensembl
    31. regulation of renin secretion into blood stream Source: Ensembl
    32. regulation of ventricular cardiac muscle cell membrane depolarization Source: Ensembl
    33. regulation of ventricular cardiac muscle cell membrane repolarization Source: Ensembl
    34. SA node cell action potential Source: Ensembl
    35. septum primum development Source: Ensembl
    36. skeletal system development Source: Ensembl
    37. transmembrane transport Source: GOC
    38. vasomotion Source: Ensembl
    39. ventricular cardiac muscle cell action potential Source: Ensembl
    40. ventricular septum development Source: BHF-UCL
    41. ventricular septum morphogenesis Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction alpha-5 protein
    Alternative name(s):
    Connexin-40
    Short name:
    Cx40
    Gene namesi
    Name:GJA5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4279. GJA5.

    Subcellular locationi

    GO - Cellular componenti

    1. cell projection Source: Ensembl
    2. connexon complex Source: BHF-UCL
    3. gap junction Source: BHF-UCL
    4. integral component of plasma membrane Source: BHF-UCL
    5. intercalated disc Source: BHF-UCL

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Atrial standstill 1 (ATRST1) [MIM:108770]: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.1 Publication
    Note: The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881P → S in ATRST1; somatic. 1 Publication
    VAR_035013
    Natural varianti96 – 961A → S in ATRST1. 1 Publication
    Corresponds to variant rs121434557 [ dbSNP | Ensembl ].
    VAR_035014
    Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851V → I in ATFB11. 1 Publication
    VAR_066249
    Natural varianti221 – 2211L → I in ATFB11. 1 Publication
    VAR_066250
    Natural varianti229 – 2291L → M in ATFB11. 1 Publication
    VAR_066251

    Keywords - Diseasei

    Atrial fibrillation, Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi108770. phenotype.
    614049. phenotype.
    Orphaneti334. Familial atrial fibrillation.
    3303. Tetralogy of Fallot.
    PharmGKBiPA28690.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 358358Gap junction alpha-5 proteinPRO_0000057819Add
    BLAST

    Proteomic databases

    PaxDbiP36382.
    PRIDEiP36382.

    PTM databases

    PhosphoSiteiP36382.

    Expressioni

    Gene expression databases

    BgeeiP36382.
    CleanExiHS_GJA5.
    GenevestigatoriP36382.

    Organism-specific databases

    HPAiCAB013080.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins.

    Protein-protein interaction databases

    BioGridi108969. 4 interactions.
    IntActiP36382. 3 interactions.
    MINTiMINT-1454178.
    STRINGi9606.ENSP00000271348.

    Structurei

    3D structure databases

    ProteinModelPortaliP36382.
    SMRiP36382. Positions 3-229, 252-358.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini41 – 7636ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini98 – 16467CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini186 – 20520ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini227 – 358132CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei165 – 18521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei206 – 22621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45265.
    HOGENOMiHOG000231127.
    HOVERGENiHBG009576.
    InParanoidiP36382.
    KOiK07614.
    OMAiDWSFLGE.
    OrthoDBiEOG7P2XSS.
    PhylomeDBiP36382.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    IPR002264. Connexin40.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view]
    PANTHERiPTHR11984. PTHR11984. 1 hit.
    PTHR11984:SF13. PTHR11984:SF13. 1 hit.
    PfamiPF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view]
    PRINTSiPR00206. CONNEXIN.
    PR01135. CONNEXINA5.
    SMARTiSM00037. CNX. 1 hit.
    SM01089. Connexin_CCC. 1 hit.
    [Graphical view]
    PROSITEiPS00407. CONNEXINS_1. 1 hit.
    PS00408. CONNEXINS_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P36382-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGDWSFLGNF LEEVHKHSTV VGKVWLTVLF IFRMLVLGTA AESSWGDEQA    50
    DFRCDTIQPG CQNVCYDQAF PISHIRYWVL QIIFVSTPSL VYMGHAMHTV 100
    RMQEKRKLRE AERAKEVRGS GSYEYPVAEK AELSCWEEGN GRIALQGTLL 150
    NTYVCSILIR TTMEVGFIVG QYFIYGIFLT TLHVCRRSPC PHPVNCYVSR 200
    PTEKNVFIVF MLAVAALSLL LSLAELYHLG WKKIRQRFVK PRQHMAKCQL 250
    SGPSVGIVQS CTPPPDFNQC LENGPGGKFF NPFSNNMASQ QNTDNLVTEQ 300
    VRGQEQTPGE GFIQVRYGQK PEVPNGVSPG HRLPHGYHSD KRRLSKASSK 350
    ARSDDLSV 358
    Length:358
    Mass (Da):40,380
    Last modified:January 23, 2007 - v3
    Checksum:iDE9DD863C130229A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851V → I in ATFB11. 1 Publication
    VAR_066249
    Natural varianti88 – 881P → S in ATRST1; somatic. 1 Publication
    VAR_035013
    Natural varianti96 – 961A → S in ATRST1. 1 Publication
    Corresponds to variant rs121434557 [ dbSNP | Ensembl ].
    VAR_035014
    Natural varianti221 – 2211L → I in ATFB11. 1 Publication
    VAR_066250
    Natural varianti229 – 2291L → M in ATFB11. 1 Publication
    VAR_066251

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03486 Genomic DNA. Translation: AAA60457.2.
    L34954 Genomic DNA. Translation: AAA91833.1.
    AF151979 Genomic DNA. Translation: AAD37801.1.
    BT019415 mRNA. Translation: AAV38222.1.
    BT019416 mRNA. Translation: AAV38223.1.
    AL365260 Genomic DNA. Translation: CAI14124.1.
    AL365260 Genomic DNA. Translation: CAI14125.1.
    BC013313 mRNA. Translation: AAH13313.1.
    CCDSiCCDS929.1.
    PIRiI38429.
    RefSeqiNP_005257.2. NM_005266.6.
    NP_859054.1. NM_181703.3.
    XP_005273008.1. XM_005272951.2.
    UniGeneiHs.447968.

    Genome annotation databases

    GeneIDi2702.
    KEGGihsa:2702.
    UCSCiuc001eps.1. human.

    Polymorphism databases

    DMDMi8928556.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03486 Genomic DNA. Translation: AAA60457.2 .
    L34954 Genomic DNA. Translation: AAA91833.1 .
    AF151979 Genomic DNA. Translation: AAD37801.1 .
    BT019415 mRNA. Translation: AAV38222.1 .
    BT019416 mRNA. Translation: AAV38223.1 .
    AL365260 Genomic DNA. Translation: CAI14124.1 .
    AL365260 Genomic DNA. Translation: CAI14125.1 .
    BC013313 mRNA. Translation: AAH13313.1 .
    CCDSi CCDS929.1.
    PIRi I38429.
    RefSeqi NP_005257.2. NM_005266.6.
    NP_859054.1. NM_181703.3.
    XP_005273008.1. XM_005272951.2.
    UniGenei Hs.447968.

    3D structure databases

    ProteinModelPortali P36382.
    SMRi P36382. Positions 3-229, 252-358.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108969. 4 interactions.
    IntActi P36382. 3 interactions.
    MINTi MINT-1454178.
    STRINGi 9606.ENSP00000271348.

    Chemistry

    GuidetoPHARMACOLOGYi 726.

    PTM databases

    PhosphoSitei P36382.

    Polymorphism databases

    DMDMi 8928556.

    Proteomic databases

    PaxDbi P36382.
    PRIDEi P36382.

    Protocols and materials databases

    DNASUi 2702.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 2702.
    KEGGi hsa:2702.
    UCSCi uc001eps.1. human.

    Organism-specific databases

    CTDi 2702.
    GeneCardsi GC01M147228.
    HGNCi HGNC:4279. GJA5.
    HPAi CAB013080.
    MIMi 108770. phenotype.
    121013. gene.
    614049. phenotype.
    neXtProti NX_P36382.
    Orphaneti 334. Familial atrial fibrillation.
    3303. Tetralogy of Fallot.
    PharmGKBi PA28690.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45265.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    InParanoidi P36382.
    KOi K07614.
    OMAi DWSFLGE.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi P36382.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJA5.
    GenomeRNAii 2702.
    NextBioi 10682.
    PROi P36382.
    SOURCEi Search...

    Gene expression databases

    Bgeei P36382.
    CleanExi HS_GJA5.
    Genevestigatori P36382.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002264. Connexin40.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view ]
    PANTHERi PTHR11984. PTHR11984. 1 hit.
    PTHR11984:SF13. PTHR11984:SF13. 1 hit.
    Pfami PF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view ]
    PRINTSi PR00206. CONNEXIN.
    PR01135. CONNEXINA5.
    SMARTi SM00037. CNX. 1 hit.
    SM01089. Connexin_CCC. 1 hit.
    [Graphical view ]
    PROSITEi PS00407. CONNEXINS_1. 1 hit.
    PS00408. CONNEXINS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45."
      Kanter H.L., Saffitz J.E., Beyer E.C.
      J. Mol. Cell. Cardiol. 26:861-868(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Beyer E.C., Christensen E.A.
      Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "Nucleotide sequence of protein-coding region of human connexin 40 gene."
      Lin H.H., Jin N., Kiang D.T.
      Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes."
      Haefliger J.-A., Goy J.J., Waeber G.
      Eur. Heart J. 20:1843-1843(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    8. Cited for: VARIANTS ATRST1 SER-88 AND SER-96.
    9. "Novel connexin40 missense mutations in patients with familial atrial fibrillation."
      Yang Y.Q., Liu X., Zhang X.L., Wang X.H., Tan H.W., Shi H.F., Jiang W.F., Fang W.Y.
      Europace 12:1421-1427(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ATFB11 ILE-85; ILE-221 AND MET-229.

    Entry informationi

    Entry nameiCXA5_HUMAN
    AccessioniPrimary (citable) accession number: P36382
    Secondary accession number(s): Q5T3B6, Q5U0N6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 136 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    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

    External Data

    Dasty 3