ID   CXD3_HUMAN              Reviewed;         294 AA.
AC   Q8N144; Q6ZUW6;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   24-JAN-2024, entry version 149.
DE   RecName: Full=Gap junction delta-3 protein;
DE   AltName: Full=Connexin-31.9;
DE            Short=Cx31.9;
DE   AltName: Full=Gap junction alpha-11 protein;
DE   AltName: Full=Gap junction chi-1 protein;
GN   Name=GJD3; Synonyms=GJA11, GJC1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INTERACTION WITH
RP   TJP1, AND TISSUE SPECIFICITY.
RX   PubMed=12154091; DOI=10.1074/jbc.m205348200;
RA   Nielsen P.A., Beahm D.L., Giepmans B.N., Baruch A., Hall J.E., Kumar N.M.;
RT   "Molecular cloning, functional expression, and tissue distribution of a
RT   novel human gap junction-forming protein, connexin-31.9. Interaction with
RT   zona occludens protein-1.";
RL   J. Biol. Chem. 277:38272-38283(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX   PubMed=12176752; DOI=10.1152/ajpcell.00163.2002;
RA   White T.W., Srinivas M., Ripps H., Trovato-Salinaro A., Condorelli D.F.,
RA   Bruzzone R.;
RT   "Virtual cloning, functional expression, and gating analysis of human
RT   connexin31.9.";
RL   Am. J. Physiol. 283:C960-C970(2002).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Lung;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC       pairs of transmembrane channels, the connexons, through which materials
CC       of low MW diffuse from one cell to a neighboring cell. {ECO:0000250}.
CC   -!- SUBUNIT: A connexon is composed of a hexamer of connexins (By
CC       similarity). Interacts with TJP1. {ECO:0000250,
CC       ECO:0000269|PubMed:12154091}.
CC   -!- INTERACTION:
CC       Q8N144; Q07157: TJP1; NbExp=2; IntAct=EBI-2629520, EBI-79553;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12154091};
CC       Multi-pass membrane protein {ECO:0000269|PubMed:12154091}. Cell
CC       junction, gap junction {ECO:0000269|PubMed:12154091}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8N144-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8N144-2; Sequence=VSP_029984;
CC   -!- TISSUE SPECIFICITY: Expressed in vascular smooth muscle cells. Found in
CC       heart, colon, and artery (at protein level). Found in cerebral cortex,
CC       heart, liver, lung, kidney, spleen and testis.
CC       {ECO:0000269|PubMed:12154091, ECO:0000269|PubMed:12176752}.
CC   -!- SIMILARITY: Belongs to the connexin family. Delta-type subfamily.
CC       {ECO:0000305}.
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DR   EMBL; AY093445; AAM18801.1; -; Genomic_DNA.
DR   EMBL; AF514298; AAM53649.1; -; Genomic_DNA.
DR   EMBL; AK125254; BAC86102.1; -; mRNA.
DR   EMBL; CH471152; EAW60660.1; -; Genomic_DNA.
DR   CCDS; CCDS58547.1; -. [Q8N144-1]
DR   RefSeq; NP_689343.3; NM_152219.3. [Q8N144-1]
DR   AlphaFoldDB; Q8N144; -.
DR   SMR; Q8N144; -.
DR   BioGRID; 125915; 452.
DR   IntAct; Q8N144; 2.
DR   STRING; 9606.ENSP00000463752; -.
DR   PhosphoSitePlus; Q8N144; -.
DR   BioMuta; GJD3; -.
DR   DMDM; 74750879; -.
DR   MassIVE; Q8N144; -.
DR   PaxDb; 9606-ENSP00000463752; -.
DR   PeptideAtlas; Q8N144; -.
DR   Antibodypedia; 51141; 34 antibodies from 13 providers.
DR   DNASU; 125111; -.
DR   Ensembl; ENST00000578689.2; ENSP00000463752.1; ENSG00000183153.7. [Q8N144-1]
DR   GeneID; 125111; -.
DR   KEGG; hsa:125111; -.
DR   MANE-Select; ENST00000578689.2; ENSP00000463752.1; NM_152219.4; NP_689343.3.
DR   UCSC; uc010cwz.4; human. [Q8N144-1]
DR   AGR; HGNC:19147; -.
DR   CTD; 125111; -.
DR   DisGeNET; 125111; -.
DR   GeneCards; GJD3; -.
DR   HGNC; HGNC:19147; GJD3.
DR   HPA; ENSG00000183153; Tissue enhanced (lymphoid).
DR   MIM; 607425; gene.
DR   neXtProt; NX_Q8N144; -.
DR   OpenTargets; ENSG00000183153; -.
DR   PharmGKB; PA162389707; -.
DR   VEuPathDB; HostDB:ENSG00000183153; -.
DR   eggNOG; ENOG502R6H2; Eukaryota.
DR   GeneTree; ENSGT01090000260005; -.
DR   HOGENOM; CLU_037388_4_2_1; -.
DR   InParanoid; Q8N144; -.
DR   OMA; YSMHQAS; -.
DR   OrthoDB; 4504241at2759; -.
DR   PhylomeDB; Q8N144; -.
DR   PathwayCommons; Q8N144; -.
DR   Reactome; R-HSA-190861; Gap junction assembly.
DR   SignaLink; Q8N144; -.
DR   BioGRID-ORCS; 125111; 16 hits in 1153 CRISPR screens.
DR   ChiTaRS; GJD3; human.
DR   GeneWiki; GJD3; -.
DR   GenomeRNAi; 125111; -.
DR   Pharos; Q8N144; Tbio.
DR   PRO; PR:Q8N144; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; Q8N144; Protein.
DR   Bgee; ENSG00000183153; Expressed in primordial germ cell in gonad and 114 other cell types or tissues.
DR   ExpressionAtlas; Q8N144; baseline and differential.
DR   GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR   GO; GO:0005922; C:connexin complex; IDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; TAS:UniProtKB.
DR   GO; GO:0086077; F:gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling; IBA:GO_Central.
DR   GO; GO:0005216; F:monoatomic ion channel activity; IEA:Ensembl.
DR   GO; GO:0007154; P:cell communication; TAS:UniProtKB.
DR   GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR   GO; GO:0016264; P:gap junction assembly; IDA:UniProtKB.
DR   GO; GO:1903780; P:negative regulation of cardiac conduction; IEA:Ensembl.
DR   GO; GO:0010459; P:negative regulation of heart rate; IEA:Ensembl.
DR   GO; GO:0009749; P:response to glucose; IEA:Ensembl.
DR   Gene3D; 1.20.1440.80; Gap junction channel protein cysteine-rich domain; 1.
DR   InterPro; IPR000500; Connexin.
DR   InterPro; IPR019570; Connexin_CCC.
DR   InterPro; IPR017990; Connexin_CS.
DR   InterPro; IPR013092; Connexin_N.
DR   InterPro; IPR038359; Connexin_N_sf.
DR   PANTHER; PTHR11984; CONNEXIN; 1.
DR   PANTHER; PTHR11984:SF5; GAP JUNCTION DELTA-3 PROTEIN; 1.
DR   Pfam; PF00029; Connexin; 1.
DR   PRINTS; PR00206; CONNEXIN.
DR   SMART; SM00037; CNX; 1.
DR   SMART; SM01089; Connexin_CCC; 1.
DR   PROSITE; PS00408; CONNEXINS_2; 1.
DR   Genevisible; Q8N144; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell junction; Cell membrane; Gap junction; Membrane;
KW   Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..294
FT                   /note="Gap junction delta-3 protein"
FT                   /id="PRO_0000312990"
FT   TOPO_DOM        1..24
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        25..45
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        46..76
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        77..97
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        98..136
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        137..157
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        158..188
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        189..209
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        210..294
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          233..294
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        236..266
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         246..294
FT                   /note="PPPALPSRRPGPEPCAPPAYAHPAPASLRECGSGRGKASPATGRRDLAI ->
FT                   IVVTWEENRHLQGEGSPGSPHPKTELDAPRFRRESTSPAGWHCSLPFHGT (in
FT                   isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_029984"
SQ   SEQUENCE   294 AA;  31933 MW;  366110E85903B3CC CRC64;
     MGEWAFLGSL LDAVQLQSPL VGRLWLVVML IFRILVLATV GGAVFEDEQE EFVCNTLQPG
     CRQTCYDRAF PVSHYRFWLF HILLLSAPPV LFVVYSMHRA GKEAGGAEAA AQCAPGLPEA
     QCAPCALRAR RARRCYLLSV ALRLLAELTF LGGQALLYGF RVAPHFACAG PPCPHTVDCF
     VSRPTEKTVF VLFYFAVGLL SALLSVAELG HLLWKGRPRA GERDNRCNRA HEEAQKLLPP
     PPPPPPPPAL PSRRPGPEPC APPAYAHPAP ASLRECGSGR GKASPATGRR DLAI
//