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P57773

- CXA9_HUMAN

UniProt

P57773 - CXA9_HUMAN

Protein

Gap junction alpha-9 protein

Gene

GJA9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 2 (19 Jul 2004)
      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.By similarity

    GO - Biological processi

    1. cell communication Source: InterPro

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction alpha-9 protein
    Alternative name(s):
    Connexin-58
    Short name:
    Cx58
    Connexin-59
    Short name:
    Cx59
    Gap junction alpha-10 protein
    Gene namesi
    Name:GJA9
    Synonyms:GJA10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:19155. GJA9.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity. Cell junctiongap junction By similarity

    GO - Cellular componenti

    1. connexon complex Source: InterPro
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164741587.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 515515Gap junction alpha-9 proteinPRO_0000057840Add
    BLAST

    Proteomic databases

    PaxDbiP57773.
    PRIDEiP57773.

    Expressioni

    Tissue specificityi

    Highly abundant in skeletal muscle. Also detected in testis.1 Publication

    Gene expression databases

    BgeeiP57773.
    CleanExiHS_GJA10.
    HS_GJA9.
    GenevestigatoriP57773.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins.By similarity

    Protein-protein interaction databases

    BioGridi123346. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP57773.
    SMRiP57773. Positions 3-233.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini41 – 7737ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini99 – 16668CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini188 – 20922ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini231 – 515285CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei78 – 9821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei167 – 18721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei210 – 23021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47548.
    HOGENOMiHOG000231127.
    HOVERGENiHBG094583.
    InParanoidiP57773.
    KOiK07618.
    OrthoDBiEOG7P2XSS.
    PhylomeDBiP57773.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    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.
    SMARTiSM00037. CNX. 1 hit.
    SM01089. Connexin_CCC. 1 hit.
    [Graphical view]
    PROSITEiPS00407. CONNEXINS_1. 1 hit.
    PS00408. CONNEXINS_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P57773-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGDWNLLGDT LEEVHIHSTM IGKIWLTILF IFRMLVLGVA AEDVWNDEQS    50
    GFICNTEQPG CRNVCYDQAF PISLIRYWVL QVIFVSSPSL VYMGHALYRL 100
    RVLEEERQRM KAQLRVELEE VEFEMPRDRR RLEQELCQLE KRKLNKAPLR 150
    GTLLCTYVIH IFTRSVVEVG FMIGQYLLYG FHLEPLFKCH GHPCPNIIDC 200
    FVSRPTEKTI FLLFMQSIAT ISLFLNILEI FHLGFKKIKR GLWGKYKLKK 250
    EHNEFHANKA KQNVAKYQST SANSLKRLPS APDYNLLVEK QTHTAVYPSL 300
    NSSSVFQPNP DNHSVNDEKC ILDEQETVLS NEISTLSTSC SHFQHISSNN 350
    NKDTHKIFGK ELNGNQLMEK RETEGKDSKR NYYSRGHRSI PGVAIDGENN 400
    MRQSPQTVFS LPANCDWKPR WLRATWGSST EHENRGSPPK GNLKGQFRKG 450
    TVRTLPPSQG DSQSLDIPNT ADSLGGLSFE PGLVRTCNNP VCPPNHVVSL 500
    TNNLIGRRVP TDLQI 515
    Length:515
    Mass (Da):58,842
    Last modified:July 19, 2004 - v2
    Checksum:iEEBF18F9C0AD0C96
    GO
    Isoform 2 (identifier: P57773-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         441-515: GNLKGQFRKG...GRRVPTDLQI → VPGSKATASS...MGHHSFRGPR

    Note: No experimental confirmation available.

    Show »
    Length:514
    Mass (Da):58,950
    Checksum:iE9E458D72DD0A584
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti497 – 4971V → I.1 Publication
    Corresponds to variant rs880303 [ dbSNP | Ensembl ].
    VAR_019392

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei441 – 51575GNLKG…TDLQI → VPGSKATASSLLLILQRPTS SQPRLKETPKIKAEAKIYDS KHPPQLLQSTVSTFSGREPR SPAPMGHHSFRGPR in isoform 2. 1 PublicationVSP_035808Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF179597 Genomic DNA. Translation: AAG09406.1.
    AF271261 mRNA. Translation: AAK55516.1.
    AK123051 mRNA. Translation: BAG53864.1.
    AK312811 mRNA. Translation: BAG35669.1.
    AL139260 Genomic DNA. Translation: CAI23051.1.
    CH471059 Genomic DNA. Translation: EAX07289.1.
    CCDSiCCDS432.1. [P57773-1]
    RefSeqiNP_110399.2. NM_030772.4. [P57773-1]
    UniGeneiHs.591506.

    Genome annotation databases

    EnsembliENST00000357771; ENSP00000350415; ENSG00000131233. [P57773-1]
    ENST00000360786; ENSP00000354020; ENSG00000131233. [P57773-1]
    GeneIDi81025.
    KEGGihsa:81025.
    UCSCiuc021olr.1. human. [P57773-1]

    Polymorphism databases

    DMDMi50403749.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF179597 Genomic DNA. Translation: AAG09406.1 .
    AF271261 mRNA. Translation: AAK55516.1 .
    AK123051 mRNA. Translation: BAG53864.1 .
    AK312811 mRNA. Translation: BAG35669.1 .
    AL139260 Genomic DNA. Translation: CAI23051.1 .
    CH471059 Genomic DNA. Translation: EAX07289.1 .
    CCDSi CCDS432.1. [P57773-1 ]
    RefSeqi NP_110399.2. NM_030772.4. [P57773-1 ]
    UniGenei Hs.591506.

    3D structure databases

    ProteinModelPortali P57773.
    SMRi P57773. Positions 3-233.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123346. 2 interactions.

    Chemistry

    GuidetoPHARMACOLOGYi 733.

    Polymorphism databases

    DMDMi 50403749.

    Proteomic databases

    PaxDbi P57773.
    PRIDEi P57773.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357771 ; ENSP00000350415 ; ENSG00000131233 . [P57773-1 ]
    ENST00000360786 ; ENSP00000354020 ; ENSG00000131233 . [P57773-1 ]
    GeneIDi 81025.
    KEGGi hsa:81025.
    UCSCi uc021olr.1. human. [P57773-1 ]

    Organism-specific databases

    CTDi 81025.
    GeneCardsi GC01M039339.
    HGNCi HGNC:19155. GJA9.
    MIMi 611923. gene.
    neXtProti NX_P57773.
    PharmGKBi PA164741587.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47548.
    HOGENOMi HOG000231127.
    HOVERGENi HBG094583.
    InParanoidi P57773.
    KOi K07618.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi P57773.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GenomeRNAii 81025.
    NextBioi 71344.
    PROi P57773.
    SOURCEi Search...

    Gene expression databases

    Bgeei P57773.
    CleanExi HS_GJA10.
    HS_GJA9.
    Genevestigatori P57773.

    Family and domain databases

    InterProi IPR000500. Connexin.
    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.
    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. "Identification of a new connexin gene using degenerate PCR primers."
      Coucke P.J., Van Laer L., Meyers J., Van Hauwe P., Ottschytsch N., Wauters G., Kelley P., Willems P.J., Van Camp G.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-497.
    2. "Molecular cloning of human CX58."
      Xia J.H., Lu C.Y., He Y.G., Zhang H.L., Deng H.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Placenta.
    3. "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] (ISOFORMS 1 AND 2).
      Tissue: Testis.
    4. "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].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues."
      Soehl G., Nielsen P.A., Eiberger J., Willecke K.
      Cell Commun. Adhes. 10:27-36(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiCXA9_HUMAN
    AccessioniPrimary (citable) accession number: P57773
    Secondary accession number(s): B2R722
    , B3KVQ2, Q5TA63, Q96KG0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: July 19, 2004
    Last modified: October 1, 2014
    This is version 107 of the entry and version 2 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