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Q8N144

- CXD3_HUMAN

UniProt

Q8N144 - CXD3_HUMAN

Protein

Gap junction delta-3 protein

Gene

GJD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (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 - Molecular functioni

    1. ion channel activity Source: Ensembl
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell communication Source: UniProtKB
    2. gap junction assembly Source: UniProtKB

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.
    SignaLinkiQ8N144.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction delta-3 protein
    Alternative name(s):
    Connexin-31.9
    Short name:
    Cx31.9
    Gap junction alpha-11 protein
    Gap junction chi-1 protein
    Gene namesi
    Name:GJD3
    Synonyms:GJA11, GJC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:19147. GJD3.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell junctiongap junction 1 Publication

    GO - Cellular componenti

    1. cell surface Source: UniProtKB
    2. connexon complex Source: UniProtKB
    3. integral component of plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162389707.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 294294Gap junction delta-3 proteinPRO_0000312990Add
    BLAST

    Proteomic databases

    PaxDbiQ8N144.
    PRIDEiQ8N144.

    Expressioni

    Tissue specificityi

    Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.2 Publications

    Gene expression databases

    ArrayExpressiQ8N144.
    BgeeiQ8N144.
    CleanExiHS_GJC1.
    HS_GJD3.
    GenevestigatoriQ8N144.

    Organism-specific databases

    HPAiHPA043159.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins By similarity. Interacts with TJP1.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TJP1Q071572EBI-2629520,EBI-79553

    Protein-protein interaction databases

    BioGridi125915. 1 interaction.
    IntActiQ8N144. 1 interaction.
    STRINGi9606.ENSP00000336832.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N144.
    SMRiQ8N144. Positions 3-213.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2424CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini46 – 7631ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini98 – 13639CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini158 – 18831ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini210 – 29485CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei25 – 4521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei137 – 15721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei189 – 20921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi239 – 27032Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41593.
    HOGENOMiHOG000231127.
    HOVERGENiHBG009576.
    KOiK07627.
    OMAiRRARRCY.
    OrthoDBiEOG7BCNCV.
    PhylomeDBiQ8N144.

    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]
    PROSITEiPS00408. 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: Q8N144-1) [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

    MGEWAFLGSL LDAVQLQSPL VGRLWLVVML IFRILVLATV GGAVFEDEQE    50
    EFVCNTLQPG CRQTCYDRAF PVSHYRFWLF HILLLSAPPV LFVVYSMHRA 100
    GKEAGGAEAA AQCAPGLPEA QCAPCALRAR RARRCYLLSV ALRLLAELTF 150
    LGGQALLYGF RVAPHFACAG PPCPHTVDCF VSRPTEKTVF VLFYFAVGLL 200
    SALLSVAELG HLLWKGRPRA GERDNRCNRA HEEAQKLLPP PPPPPPPPAL 250
    PSRRPGPEPC APPAYAHPAP ASLRECGSGR GKASPATGRR DLAI 294
    Length:294
    Mass (Da):31,933
    Last modified:October 1, 2002 - v1
    Checksum:i366110E85903B3CC
    GO
    Isoform 2 (identifier: Q8N144-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         246-294: PPPALPSRRP...PATGRRDLAI → IVVTWEENRH...WHCSLPFHGT

    Note: No experimental confirmation available.

    Show »
    Length:295
    Mass (Da):32,571
    Checksum:iB5D3D5F56196BC55
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei246 – 29449PPPAL…RDLAI → IVVTWEENRHLQGEGSPGSP HPKTELDAPRFRRESTSPAG WHCSLPFHGT in isoform 2. 1 PublicationVSP_029984Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY093445 Genomic DNA. Translation: AAM18801.1.
    AF514298 Genomic DNA. Translation: AAM53649.1.
    AK125254 mRNA. Translation: BAC86102.1.
    CH471152 Genomic DNA. Translation: EAW60660.1.
    CCDSiCCDS58547.1. [Q8N144-1]
    RefSeqiNP_689343.3. NM_152219.3. [Q8N144-1]
    UniGeneiHs.444663.

    Genome annotation databases

    EnsembliENST00000578689; ENSP00000463752; ENSG00000183153. [Q8N144-1]
    GeneIDi125111.
    KEGGihsa:125111.
    UCSCiuc010cwz.3. human. [Q8N144-1]

    Polymorphism databases

    DMDMi74750879.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY093445 Genomic DNA. Translation: AAM18801.1 .
    AF514298 Genomic DNA. Translation: AAM53649.1 .
    AK125254 mRNA. Translation: BAC86102.1 .
    CH471152 Genomic DNA. Translation: EAW60660.1 .
    CCDSi CCDS58547.1. [Q8N144-1 ]
    RefSeqi NP_689343.3. NM_152219.3. [Q8N144-1 ]
    UniGenei Hs.444663.

    3D structure databases

    ProteinModelPortali Q8N144.
    SMRi Q8N144. Positions 3-213.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125915. 1 interaction.
    IntActi Q8N144. 1 interaction.
    STRINGi 9606.ENSP00000336832.

    Chemistry

    GuidetoPHARMACOLOGYi 722.

    Polymorphism databases

    DMDMi 74750879.

    Proteomic databases

    PaxDbi Q8N144.
    PRIDEi Q8N144.

    Protocols and materials databases

    DNASUi 125111.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000578689 ; ENSP00000463752 ; ENSG00000183153 . [Q8N144-1 ]
    GeneIDi 125111.
    KEGGi hsa:125111.
    UCSCi uc010cwz.3. human. [Q8N144-1 ]

    Organism-specific databases

    CTDi 125111.
    GeneCardsi GC17M038516.
    H-InvDB HIX0079908.
    HGNCi HGNC:19147. GJD3.
    HPAi HPA043159.
    MIMi 607425. gene.
    neXtProti NX_Q8N144.
    PharmGKBi PA162389707.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41593.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    KOi K07627.
    OMAi RRARRCY.
    OrthoDBi EOG7BCNCV.
    PhylomeDBi Q8N144.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.
    SignaLinki Q8N144.

    Miscellaneous databases

    GeneWikii GJD3.
    GenomeRNAii 125111.
    NextBioi 81481.
    PROi Q8N144.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N144.
    Bgeei Q8N144.
    CleanExi HS_GJC1.
    HS_GJD3.
    Genevestigatori Q8N144.

    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 PS00408. CONNEXINS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1."
      Nielsen P.A., Beahm D.L., Giepmans B.N., Baruch A., Hall J.E., Kumar N.M.
      J. Biol. Chem. 277:38272-38283(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INTERACTION WITH TJP1, TISSUE SPECIFICITY.
    2. "Virtual cloning, functional expression, and gating analysis of human connexin31.9."
      White T.W., Srinivas M., Ripps H., Trovato-Salinaro A., Condorelli D.F., Bruzzone R.
      Am. J. Physiol. 283:C960-C970(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
    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] (ISOFORM 2).
      Tissue: Lung.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiCXD3_HUMAN
    AccessioniPrimary (citable) accession number: Q8N144
    Secondary accession number(s): Q6ZUW6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 93 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 17
      Human chromosome 17: 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