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P35212

- CXA4_HUMAN

UniProt

P35212 - CXA4_HUMAN

Protein

Gap junction alpha-4 protein

Gene

GJA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (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. protein binding Source: IntAct

    GO - Biological processi

    1. blood vessel development Source: Ensembl
    2. calcium ion transport Source: Ensembl
    3. cell-cell junction assembly Source: ProtInc
    4. cell-cell signaling Source: Ensembl
    5. endothelium development Source: Ensembl
    6. response to pain Source: Ensembl
    7. transport Source: ProtInc

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Protein family/group databases

    TCDBi1.A.24.1.6. the gap junction-forming connexin (connexin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction alpha-4 protein
    Alternative name(s):
    Connexin-37
    Short name:
    Cx37
    Gene namesi
    Name:GJA4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4278. GJA4.

    Subcellular locationi

    GO - Cellular componenti

    1. connexon complex Source: Ensembl
    2. gap junction Source: ProtInc
    3. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28689.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 333333Gap junction alpha-4 proteinPRO_0000057814Add
    BLAST

    Proteomic databases

    PaxDbiP35212.
    PRIDEiP35212.

    PTM databases

    PhosphoSiteiP35212.

    Expressioni

    Tissue specificityi

    Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium.

    Gene expression databases

    ArrayExpressiP35212.
    BgeeiP35212.
    CleanExiHS_GJA4.
    GenevestigatoriP35212.

    Organism-specific databases

    HPAiCAB013247.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    OPRM1P353722EBI-6918707,EBI-2624570

    Protein-protein interaction databases

    IntActiP35212. 3 interactions.
    STRINGi9606.ENSP00000343676.

    Structurei

    3D structure databases

    ProteinModelPortaliP35212.
    SMRiP35212. Positions 3-234.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini41 – 7636ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini100 – 14849CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini166 – 20742ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini231 – 333103CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4020HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei149 – 16517HelicalSequence AnalysisAdd
    BLAST
    Transmembranei208 – 23023HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39708.
    HOVERGENiHBG009576.
    InParanoidiP35212.
    KOiK07613.
    OMAiQNWANLT.
    OrthoDBiEOG7P2XSS.
    PhylomeDBiP35212.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    IPR002263. Connexin37.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view]
    PANTHERiPTHR11984. PTHR11984. 1 hit.
    PfamiPF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view]
    PRINTSiPR00206. CONNEXIN.
    PR01134. CONNEXINA4.
    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.

    P35212-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGDWGFLEKL LDQVQEHSTV VGKIWLTVLF IFRILILGLA GESVWGDEQS    50
    DFECNTAQPG CTNVCYDQAF PISHIRYWVL QFLFVSTPTL VYLGHVIYLS 100
    RREERLRQKE GELRALPAKD PQVERALAAV ERQMAKISVA EDGRLRIRGA 150
    LMGTYVASVL CKSVLEAGFL YGQWRLYGWT MEPVFVCQRA PCPYLVDCFV 200
    SRPTEKTIFI IFMLVVGLIS LVLNLLELVH LLCRCLSRGM RARQGQDAPP 250
    TQGTSSDPYT DQVFFYLPVG QGPSSPPCPT YNGLSSSEQN WANLTTEERL 300
    ASSRPPLFLD PPPQNGQKPP SRPSSSASKK QYV 333
    Length:333
    Mass (Da):37,414
    Last modified:January 23, 2007 - v3
    Checksum:i93AD224531E5EAD2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711P → S.1 Publication
    VAR_009159
    Natural varianti128 – 1281A → V.1 Publication
    VAR_009160
    Natural varianti130 – 1301V → I.3 Publications
    Corresponds to variant rs41266431 [ dbSNP | Ensembl ].
    VAR_009161
    Natural varianti319 – 3191P → S in allele CX37*2. 4 Publications
    Corresponds to variant rs1764391 [ dbSNP | Ensembl ].
    VAR_009162

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M96789 mRNA. Translation: AAA52558.2.
    AF139100 Genomic DNA. Translation: AAD31869.1.
    AF139101 Genomic DNA. Translation: AAD31870.1.
    AF139102 Genomic DNA. Translation: AAD31871.1.
    AF139103 Genomic DNA. Translation: AAD31872.1.
    AF139104 Genomic DNA. Translation: AAD31873.1.
    AF139105 Genomic DNA. Translation: AAD31874.1.
    AF181620 mRNA. Translation: AAD56940.1.
    AF132674 Genomic DNA. Translation: AAF62342.1.
    AK291563 mRNA. Translation: BAF84252.1.
    AL121988 Genomic DNA. Translation: CAB90268.1.
    CH471059 Genomic DNA. Translation: EAX07440.1.
    CH471059 Genomic DNA. Translation: EAX07441.1.
    BC027889 mRNA. Translation: AAH27889.1.
    BC072389 mRNA. Translation: AAH72389.1.
    CCDSiCCDS30669.1.
    PIRiI55593.
    RefSeqiNP_002051.2. NM_002060.2.
    XP_005270807.1. XM_005270750.1.
    UniGeneiHs.296310.

    Genome annotation databases

    EnsembliENST00000342280; ENSP00000343676; ENSG00000187513.
    GeneIDi2701.
    KEGGihsa:2701.
    UCSCiuc001bya.3. human.

    Polymorphism databases

    DMDMi8928555.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M96789 mRNA. Translation: AAA52558.2 .
    AF139100 Genomic DNA. Translation: AAD31869.1 .
    AF139101 Genomic DNA. Translation: AAD31870.1 .
    AF139102 Genomic DNA. Translation: AAD31871.1 .
    AF139103 Genomic DNA. Translation: AAD31872.1 .
    AF139104 Genomic DNA. Translation: AAD31873.1 .
    AF139105 Genomic DNA. Translation: AAD31874.1 .
    AF181620 mRNA. Translation: AAD56940.1 .
    AF132674 Genomic DNA. Translation: AAF62342.1 .
    AK291563 mRNA. Translation: BAF84252.1 .
    AL121988 Genomic DNA. Translation: CAB90268.1 .
    CH471059 Genomic DNA. Translation: EAX07440.1 .
    CH471059 Genomic DNA. Translation: EAX07441.1 .
    BC027889 mRNA. Translation: AAH27889.1 .
    BC072389 mRNA. Translation: AAH72389.1 .
    CCDSi CCDS30669.1.
    PIRi I55593.
    RefSeqi NP_002051.2. NM_002060.2.
    XP_005270807.1. XM_005270750.1.
    UniGenei Hs.296310.

    3D structure databases

    ProteinModelPortali P35212.
    SMRi P35212. Positions 3-234.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P35212. 3 interactions.
    STRINGi 9606.ENSP00000343676.

    Chemistry

    GuidetoPHARMACOLOGYi 725.

    Protein family/group databases

    TCDBi 1.A.24.1.6. the gap junction-forming connexin (connexin) family.

    PTM databases

    PhosphoSitei P35212.

    Polymorphism databases

    DMDMi 8928555.

    Proteomic databases

    PaxDbi P35212.
    PRIDEi P35212.

    Protocols and materials databases

    DNASUi 2701.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000342280 ; ENSP00000343676 ; ENSG00000187513 .
    GeneIDi 2701.
    KEGGi hsa:2701.
    UCSCi uc001bya.3. human.

    Organism-specific databases

    CTDi 2701.
    GeneCardsi GC01P035258.
    HGNCi HGNC:4278. GJA4.
    HPAi CAB013247.
    MIMi 121012. gene.
    neXtProti NX_P35212.
    PharmGKBi PA28689.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39708.
    HOVERGENi HBG009576.
    InParanoidi P35212.
    KOi K07613.
    OMAi QNWANLT.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi P35212.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    ChiTaRSi GJA4. human.
    GeneWikii GJA4.
    GenomeRNAii 2701.
    NextBioi 10678.
    PROi P35212.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35212.
    Bgeei P35212.
    CleanExi HS_GJA4.
    Genevestigatori P35212.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002263. Connexin37.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view ]
    PANTHERi PTHR11984. PTHR11984. 1 hit.
    Pfami PF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view ]
    PRINTSi PR00206. CONNEXIN.
    PR01134. CONNEXINA4.
    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 and functional expression of human connexin37, an endothelial cell gap junction protein."
      Reed K.E., Westphale E.M., Larson D.M., Wang H.-Z., Veenstra R.D., Beyer E.C.
      J. Clin. Invest. 91:997-1004(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Beyer E.C.
      Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "A connexin 37 genotypic variant in atherosclerosis."
      van Zeijl L., Cotgreave I.A.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-71; VAL-128; ILE-130 AND SER-319.
    4. "Functional expression and biophysical properties of two polymorphic forms of human connexin37."
      Kumari S., Varadaraj K., Valiunas V., Ramanan S.V., Beyer E.C., Brink P.R.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ILE-130 AND SER-319.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    6. "Connexin 37 mutation screening in anovulatory polycystic ovary syndrome."
      Lench N.J., Williams G., Williams E., Gharani N., Franks S.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "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].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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: Ovary, Pancreas and Spleen.
    10. "Human connexin 37 is polymorphic but not mutated in tumours."
      Krutovskikh V., Mironov N., Yamasaki H.
      Carcinogenesis 17:1761-1763(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ILE-130.
    11. "A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development."
      Boerma M., Forsberg L., Van Zeijl L., Morgenstern R., De Faire U., Lemne C., Erlinge D., Thulin T., Hong Y., Cotgreave I.A.
      J. Intern. Med. 246:211-218(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-319.
    12. "Human hemangiosarcomas have a common polymorphism but no mutations in the connexin37 gene."
      Saito T., Krutovskikh V., Marion M.J., Ishak K.G., Bennett W.P., Yamasaki H.
      Int. J. Cancer 86:67-70(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-319.

    Entry informationi

    Entry nameiCXA4_HUMAN
    AccessioniPrimary (citable) accession number: P35212
    Secondary accession number(s): A8K698
    , D3DPR4, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1994
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 133 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