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Q96KN9

- CXD4_HUMAN

UniProt

Q96KN9 - CXD4_HUMAN

Protein

Gap junction delta-4 protein

Gene

GJD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      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. regulation of satellite cell activation involved in skeletal muscle regeneration Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction delta-4 protein
    Alternative name(s):
    Connexin-40.1
    Short name:
    Cx40.1
    Gene namesi
    Name:GJD4
    Synonyms:CX40.1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23296. GJD4.

    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

    PharmGKBiPA162389714.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 370370Gap junction delta-4 proteinPRO_0000312991Add
    BLAST

    Proteomic databases

    PaxDbiQ96KN9.
    PRIDEiQ96KN9.

    PTM databases

    PhosphoSiteiQ96KN9.

    Expressioni

    Tissue specificityi

    Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart.1 Publication

    Gene expression databases

    BgeeiQ96KN9.
    CleanExiHS_GJD4.
    GenevestigatoriQ96KN9.

    Organism-specific databases

    HPAiHPA038266.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi128574. 1 interaction.
    STRINGi9606.ENSP00000315070.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96KN9.
    SMRiQ96KN9. Positions 3-222.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini41 – 7636ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini98 – 14649CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini168 – 19629ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini218 – 370153CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei147 – 16721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei197 – 21721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39258.
    HOGENOMiHOG000112113.
    HOVERGENiHBG062544.
    InParanoidiQ96KN9.
    KOiK07630.
    OMAiANVCYDV.
    OrthoDBiEOG78PV9Q.
    PhylomeDBiQ96KN9.
    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.

    Q96KN9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE    50
    RFVCNTLQPG CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG 100
    ATLAALGPRR CPDPREPASG QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR 150
    TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC TGVVDCYVSR PTEKSLLMLF 200
    LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS GASGHAEGRR 250
    TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS 300
    SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP 350
    DPPASSSGAP HLRARKSEWV 370
    Length:370
    Mass (Da):40,140
    Last modified:December 1, 2001 - v1
    Checksum:iCD49F31743A7F7C2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti205 – 2051S → G in BAC11028. (PubMed:16303743)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901A → V.
    Corresponds to variant rs35398622 [ dbSNP | Ensembl ].
    VAR_047626
    Natural varianti269 – 2691R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_037640
    Natural varianti271 – 2711G → R in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_037641

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ414564 mRNA. Translation: CAC93846.1.
    AK074504 mRNA. Translation: BAC11028.1.
    AL121749 Genomic DNA. Translation: CAH73708.1.
    CH471072 Genomic DNA. Translation: EAW85910.1.
    CCDSiCCDS7191.1.
    RefSeqiNP_699199.2. NM_153368.2.
    UniGeneiHs.638922.
    Hs.670506.

    Genome annotation databases

    EnsembliENST00000321660; ENSP00000315070; ENSG00000177291.
    GeneIDi219770.
    KEGGihsa:219770.
    UCSCiuc001iyy.1. human.

    Polymorphism databases

    DMDMi74751985.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ414564 mRNA. Translation: CAC93846.1 .
    AK074504 mRNA. Translation: BAC11028.1 .
    AL121749 Genomic DNA. Translation: CAH73708.1 .
    CH471072 Genomic DNA. Translation: EAW85910.1 .
    CCDSi CCDS7191.1.
    RefSeqi NP_699199.2. NM_153368.2.
    UniGenei Hs.638922.
    Hs.670506.

    3D structure databases

    ProteinModelPortali Q96KN9.
    SMRi Q96KN9. Positions 3-222.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128574. 1 interaction.
    STRINGi 9606.ENSP00000315070.

    Chemistry

    GuidetoPHARMACOLOGYi 727.

    PTM databases

    PhosphoSitei Q96KN9.

    Polymorphism databases

    DMDMi 74751985.

    Proteomic databases

    PaxDbi Q96KN9.
    PRIDEi Q96KN9.

    Protocols and materials databases

    DNASUi 219770.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321660 ; ENSP00000315070 ; ENSG00000177291 .
    GeneIDi 219770.
    KEGGi hsa:219770.
    UCSCi uc001iyy.1. human.

    Organism-specific databases

    CTDi 219770.
    GeneCardsi GC10P035894.
    H-InvDB HIX0201548.
    HGNCi HGNC:23296. GJD4.
    HPAi HPA038266.
    MIMi 611922. gene.
    neXtProti NX_Q96KN9.
    PharmGKBi PA162389714.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39258.
    HOGENOMi HOG000112113.
    HOVERGENi HBG062544.
    InParanoidi Q96KN9.
    KOi K07630.
    OMAi ANVCYDV.
    OrthoDBi EOG78PV9Q.
    PhylomeDBi Q96KN9.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJD4.
    GenomeRNAii 219770.
    NextBioi 90746.
    PROi Q96KN9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96KN9.
    CleanExi HS_GJD4.
    Genevestigatori Q96KN9.

    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. "Structural and functional diversity of connexin genes in the mouse and human genome."
      Willecke K., Eiberger J., Degen J., Eckardt D., Romualdi A., Guldenagel M., Deutsch U., Soehl G.
      Biol. Chem. 383:725-737(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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.
    6. Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-269 AND ARG-271.

    Entry informationi

    Entry nameiCXD4_HUMAN
    AccessioniPrimary (citable) accession number: Q96KN9
    Secondary accession number(s): Q8N2R7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 97 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 10
      Human chromosome 10: 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