CXD3_HUMAN
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 03-AUG-2022, entry version 142.
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; 1.
DR STRING; 9606.ENSP00000463752; -.
DR PhosphoSitePlus; Q8N144; -.
DR BioMuta; GJD3; -.
DR DMDM; 74750879; -.
DR MassIVE; Q8N144; -.
DR PaxDb; Q8N144; -.
DR PeptideAtlas; Q8N144; -.
DR PRIDE; Q8N144; -.
DR Antibodypedia; 51141; 33 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 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; ENSGT01050000244833; -.
DR HOGENOM; CLU_037388_4_2_1; -.
DR InParanoid; Q8N144; -.
DR OMA; RRARRCY; -.
DR OrthoDB; 1263142at2759; -.
DR PhylomeDB; Q8N144; -.
DR PathwayCommons; Q8N144; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; Q8N144; -.
DR BioGRID-ORCS; 125111; 14 hits in 1075 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 apex of heart and 113 other tissues.
DR ExpressionAtlas; Q8N144; baseline and differential.
DR Genevisible; Q8N144; HS.
DR GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR GO; GO:0005922; C:connexin complex; IDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:UniProtKB.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0005216; F: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; -; 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; PTHR11984; 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.
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
