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H9U1J4

- H9U1J4_HUMAN

UniProt

H9U1J4 - H9U1J4_HUMAN

Protein

Gap junction protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 23 (01 Oct 2014)
      Sequence version 1 (13 Jun 2012)
      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.UniRule annotation

    GO - Molecular functioni

    1. gap junction channel activity Source: Ensembl

    GO - Biological processi

    1. cell-cell signaling Source: Ensembl
    2. male genitalia development Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction proteinUniRule annotation
    Gene namesi
    Name:GJB2Imported
    ORF Names:hCG_18943Imported
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

    Subcellular locationi

    Cell membrane SAAS annotation; Multi-pass membrane protein SAAS annotation. Cell junctiongap junction SAAS annotation
    Membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

    GO - Cellular componenti

    1. connexon complex Source: InterPro
    2. integral component of membrane Source: UniProtKB-KW
    3. lateral plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Cell membraneSAAS annotation, Gap junctionUniRule annotationSAAS annotation, Membrane

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins.UniRule annotation

    Structurei

    3D structure databases

    SMRiH9U1J4. Positions 2-217.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the connexin family.UniRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helixSAAS annotation

    Phylogenomic databases

    KOiK07621.
    OMAiMYVFYIM.
    PhylomeDBiH9U1J4.

    Family and domain databases

    InterProiIPR000500. Connexin.
    IPR002268. Connexin26.
    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.
    PR01139. CONNEXINB2.
    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.

    H9U1J4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD    50
    FVCNTLQPGC KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH 100
    EKKRKFIKGE IKSEFKDIEE IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF 150
    MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC FVSRPTEKTV FTVFMIAVSG 200
    ICILLNVTEL CYLLIRYCSG KSKKPV 226
    Length:226
    Mass (Da):26,215
    Last modified:June 13, 2012 - v1
    Checksum:iD35293C6747E908C
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    JQ342677 mRNA. Translation: AFG29040.1.
    JQ595559 Genomic DNA. Translation: AFG29041.1.
    CH471075 Genomic DNA. Translation: EAX08252.1.
    CH471075 Genomic DNA. Translation: EAX08253.1.
    RefSeqiNP_003995.2. NM_004004.5.
    XP_005266411.1. XM_005266354.1.
    XP_005266412.1. XM_005266355.1.
    XP_005266413.1. XM_005266356.1.
    UniGeneiHs.524894.
    Hs.714494.

    Genome annotation databases

    GeneIDi2706.
    KEGGihsa:2706.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    JQ342677 mRNA. Translation: AFG29040.1 .
    JQ595559 Genomic DNA. Translation: AFG29041.1 .
    CH471075 Genomic DNA. Translation: EAX08252.1 .
    CH471075 Genomic DNA. Translation: EAX08253.1 .
    RefSeqi NP_003995.2. NM_004004.5.
    XP_005266411.1. XM_005266354.1.
    XP_005266412.1. XM_005266355.1.
    XP_005266413.1. XM_005266356.1.
    UniGenei Hs.524894.
    Hs.714494.

    3D structure databases

    SMRi H9U1J4. Positions 2-217.
    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 2706.
    KEGGi hsa:2706.

    Organism-specific databases

    CTDi 2706.

    Phylogenomic databases

    KOi K07621.
    OMAi MYVFYIM.
    PhylomeDBi H9U1J4.

    Miscellaneous databases

    GenomeRNAii 2706.
    NextBioi 10698.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002268. Connexin26.
    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.
    PR01139. CONNEXINB2.
    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. "The sequence of the human genome."
      Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H.
      , Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.
      Science 291:1304-1351(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE.
    2. Cited for: NUCLEOTIDE SEQUENCE.
    3. "New compound heterozygote in a patient with nonsyndromic hearing loss: a case report."
      Sadr-Nabavi A., Davari H.
      Submitted (DEC-2011) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE.
    4. "New compound heterozygote in a patient with nonsyndromic hearing loss: a case report."
      Sadr-Nabavi A., Davari H.
      Submitted (JAN-2012) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE.

    Entry informationi

    Entry nameiH9U1J4_HUMAN
    AccessioniPrimary (citable) accession number: H9U1J4
    Entry historyi
    Integrated into UniProtKB/TrEMBL: June 13, 2012
    Last sequence update: June 13, 2012
    Last modified: October 1, 2014
    This is version 23 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiUnreviewed (UniProtKB/TrEMBL)
    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.