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Q8NFK1

- CXG3_HUMAN

UniProt

Q8NFK1 - CXG3_HUMAN

Protein

Gap junction gamma-3 protein

Gene

GJC3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      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
    2. myelination Source: Ensembl
    3. sensory perception of sound Source: Ensembl

    Protein family/group databases

    TCDBi1.A.24.1.7. the gap junction-forming connexin (connexin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction gamma-3 protein
    Alternative name(s):
    Connexin-30.2
    Short name:
    Cx30.2
    Connexin-31.3
    Short name:
    Cx31.3
    Gap junction epsilon-1 protein
    Gene namesi
    Name:GJC3
    Synonyms:GJE1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:17495. GJC3.

    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
    3. myelin sheath Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162389705.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 279279Gap junction gamma-3 proteinPRO_0000057874Add
    BLAST

    Proteomic databases

    PaxDbiQ8NFK1.
    PRIDEiQ8NFK1.

    PTM databases

    PhosphoSiteiQ8NFK1.

    Expressioni

    Tissue specificityi

    CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney.2 Publications

    Gene expression databases

    BgeeiQ8NFK1.
    CleanExiHS_GJC3.
    GenevestigatoriQ8NFK1.

    Organism-specific databases

    HPAiHPA015024.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    STRINGi9606.ENSP00000325775.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFK1.
    SMRiQ8NFK1. Positions 6-213.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini44 – 7532ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini97 – 13236CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini154 – 19441ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini216 – 27964CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei23 – 4321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei133 – 15321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei195 – 21521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the connexin family. Gamma-type subfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG42371.
    HOGENOMiHOG000231127.
    HOVERGENiHBG107788.
    InParanoidiQ8NFK1.
    KOiK07628.
    OMAiIFLKTMF.
    OrthoDBiEOG7WHHBG.
    PhylomeDBiQ8NFK1.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q8NFK1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE    50
    FVCHTQQPGC KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI 100
    WHWELSGKGK EEETLIQGRE GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA 150
    ALGLQYHLYG FQMPSSFACR REPCLGSITC NLSRPSEKTI FLKTMFGVSG 200
    FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR HKKATDSLPV 250
    VETKEQFQEA VPGRSLAQEK QRPVGPRDA 279
    Length:279
    Mass (Da):31,299
    Last modified:October 1, 2002 - v1
    Checksum:i71810BB8E30533BC
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF503615 mRNA. Translation: AAM21145.1.
    AY297109 mRNA. Translation: AAP51161.1.
    CH236956 Genomic DNA. Translation: EAL23863.1.
    CH471091 Genomic DNA. Translation: EAW76624.1.
    BC043381 mRNA. Translation: AAH43381.1.
    CCDSiCCDS34697.1.
    RefSeqiNP_853516.1. NM_181538.2.
    XP_005250369.1. XM_005250312.1.
    UniGeneiHs.647524.

    Genome annotation databases

    EnsembliENST00000312891; ENSP00000325775; ENSG00000176402.
    GeneIDi349149.
    KEGGihsa:349149.
    UCSCiuc011kjd.2. human.

    Polymorphism databases

    DMDMi32171365.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF503615 mRNA. Translation: AAM21145.1 .
    AY297109 mRNA. Translation: AAP51161.1 .
    CH236956 Genomic DNA. Translation: EAL23863.1 .
    CH471091 Genomic DNA. Translation: EAW76624.1 .
    BC043381 mRNA. Translation: AAH43381.1 .
    CCDSi CCDS34697.1.
    RefSeqi NP_853516.1. NM_181538.2.
    XP_005250369.1. XM_005250312.1.
    UniGenei Hs.647524.

    3D structure databases

    ProteinModelPortali Q8NFK1.
    SMRi Q8NFK1. Positions 6-213.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000325775.

    Chemistry

    GuidetoPHARMACOLOGYi 718.

    Protein family/group databases

    TCDBi 1.A.24.1.7. the gap junction-forming connexin (connexin) family.

    PTM databases

    PhosphoSitei Q8NFK1.

    Polymorphism databases

    DMDMi 32171365.

    Proteomic databases

    PaxDbi Q8NFK1.
    PRIDEi Q8NFK1.

    Protocols and materials databases

    DNASUi 349149.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312891 ; ENSP00000325775 ; ENSG00000176402 .
    GeneIDi 349149.
    KEGGi hsa:349149.
    UCSCi uc011kjd.2. human.

    Organism-specific databases

    CTDi 349149.
    GeneCardsi GC07M099520.
    HGNCi HGNC:17495. GJC3.
    HPAi HPA015024.
    MIMi 611925. gene.
    neXtProti NX_Q8NFK1.
    PharmGKBi PA162389705.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42371.
    HOGENOMi HOG000231127.
    HOVERGENi HBG107788.
    InParanoidi Q8NFK1.
    KOi K07628.
    OMAi IFLKTMF.
    OrthoDBi EOG7WHHBG.
    PhylomeDBi Q8NFK1.
    TreeFami TF329606.

    Miscellaneous databases

    GeneWikii GJC3.
    GenomeRNAii 349149.
    NextBioi 99487.
    PROi Q8NFK1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NFK1.
    CleanExi HS_GJC3.
    Genevestigatori Q8NFK1.

    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. "Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems."
      Altevogt B.M., Kleopa K.A., Postma F.R., Scherer S.S., Paul D.L.
      J. Neurosci. 22:6458-6470(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "Human connexin 31.3 ORF."
      Enriquez A.D., Scherer S.S.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Corpus callosum.
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] OF 120-279.
      Tissue: Pancreas.
    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 nameiCXG3_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFK1
    Secondary accession number(s): A4D296, Q86XI9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2003
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 103 of the entry and version 1 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3