ID   CXG1_HUMAN              Reviewed;         396 AA.
AC   P36383; B3KW68; Q4VAY0;
DT   01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT   14-APR-2009, sequence version 2.
DT   25-MAY-2022, entry version 186.
DE   RecName: Full=Gap junction gamma-1 protein;
DE   AltName: Full=Connexin-45;
DE            Short=Cx45;
DE   AltName: Full=Gap junction alpha-7 protein;
GN   Name=GJC1; Synonyms=GJA7;
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].
RX   PubMed=7966354; DOI=10.1006/jmcc.1994.1103;
RA   Kanter H.L., Saffitz J.E., Beyer E.C.;
RT   "Molecular cloning of two human cardiac gap junction proteins, connexin40
RT   and connexin45.";
RL   J. Mol. Cell. Cardiol. 26:861-868(1994).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Uterus;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA   Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA   Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA   LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA   Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA   Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA   Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT   human lineage.";
RL   Nature 440:1045-1049(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
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.
CC   -!- SUBUNIT: A connexon is composed of a hexamer of connexins. Interacts
CC       with CNST (By similarity). {ECO:0000250}.
CC   -!- INTERACTION:
CC       P36383; O95236-2: APOL3; NbExp=3; IntAct=EBI-11979659, EBI-11976321;
CC       P36383; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11979659, EBI-16439278;
CC       P36383; Q6ZP29-3: SLC66A1; NbExp=3; IntAct=EBI-11979659, EBI-12889586;
CC       P36383; Q8N2M4: TMEM86A; NbExp=3; IntAct=EBI-11979659, EBI-12015604;
CC   -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC       junction, gap junction.
CC   -!- SIMILARITY: Belongs to the connexin family. Gamma-type subfamily.
CC       {ECO:0000305}.
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DR   EMBL; U03493; AAA60458.1; -; Genomic_DNA.
DR   EMBL; AK124339; BAG54030.1; -; mRNA.
DR   EMBL; AC005180; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC096213; AAH96213.1; -; mRNA.
DR   EMBL; BC096214; AAH96214.1; -; mRNA.
DR   EMBL; BC096215; AAH96215.1; -; mRNA.
DR   EMBL; BC096216; AAH96216.1; -; mRNA.
DR   CCDS; CCDS11487.1; -.
DR   PIR; I38430; I38430.
DR   RefSeq; NP_001073852.1; NM_001080383.1.
DR   RefSeq; NP_005488.2; NM_005497.3.
DR   RefSeq; XP_005256977.1; XM_005256920.1.
DR   RefSeq; XP_005256978.1; XM_005256921.1.
DR   PDB; 3SHW; X-ray; 2.90 A; B=387-396.
DR   PDBsum; 3SHW; -.
DR   AlphaFoldDB; P36383; -.
DR   SMR; P36383; -.
DR   BioGRID; 115363; 43.
DR   ELM; P36383; -.
DR   IntAct; P36383; 17.
DR   MINT; P36383; -.
DR   STRING; 9606.ENSP00000411528; -.
DR   TCDB; 1.A.24.2.4; the gap junction-forming connexin (connexin) family.
DR   iPTMnet; P36383; -.
DR   PhosphoSitePlus; P36383; -.
DR   BioMuta; GJC1; -.
DR   DMDM; 226693517; -.
DR   EPD; P36383; -.
DR   jPOST; P36383; -.
DR   MassIVE; P36383; -.
DR   MaxQB; P36383; -.
DR   PaxDb; P36383; -.
DR   PeptideAtlas; P36383; -.
DR   PRIDE; P36383; -.
DR   ProteomicsDB; 55181; -.
DR   Antibodypedia; 29882; 359 antibodies from 33 providers.
DR   DNASU; 10052; -.
DR   Ensembl; ENST00000330514.4; ENSP00000333193.3; ENSG00000182963.11.
DR   Ensembl; ENST00000590758.3; ENSP00000466339.1; ENSG00000182963.11.
DR   Ensembl; ENST00000592524.6; ENSP00000467201.1; ENSG00000182963.11.
DR   GeneID; 10052; -.
DR   KEGG; hsa:10052; -.
DR   MANE-Select; ENST00000592524.6; ENSP00000467201.1; NM_005497.4; NP_005488.2.
DR   UCSC; uc002ihj.4; human.
DR   CTD; 10052; -.
DR   DisGeNET; 10052; -.
DR   GeneCards; GJC1; -.
DR   HGNC; HGNC:4280; GJC1.
DR   HPA; ENSG00000182963; Tissue enhanced (placenta, smooth muscle).
DR   MIM; 608655; gene.
DR   neXtProt; NX_P36383; -.
DR   OpenTargets; ENSG00000182963; -.
DR   PharmGKB; PA164741588; -.
DR   VEuPathDB; HostDB:ENSG00000182963; -.
DR   eggNOG; ENOG502QV2G; Eukaryota.
DR   GeneTree; ENSGT00970000193389; -.
DR   HOGENOM; CLU_037388_0_0_1; -.
DR   InParanoid; P36383; -.
DR   OMA; VRWKQHR; -.
DR   OrthoDB; 692491at2759; -.
DR   PhylomeDB; P36383; -.
DR   TreeFam; TF329606; -.
DR   PathwayCommons; P36383; -.
DR   Reactome; R-HSA-112303; Electric Transmission Across Gap Junctions.
DR   Reactome; R-HSA-190861; Gap junction assembly.
DR   SignaLink; P36383; -.
DR   BioGRID-ORCS; 10052; 22 hits in 1077 CRISPR screens.
DR   ChiTaRS; GJC1; human.
DR   GeneWiki; GJC1; -.
DR   GenomeRNAi; 10052; -.
DR   Pharos; P36383; Tbio.
DR   PRO; PR:P36383; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; P36383; protein.
DR   Bgee; ENSG00000182963; Expressed in neocortex and 197 other tissues.
DR   ExpressionAtlas; P36383; baseline and differential.
DR   Genevisible; P36383; HS.
DR   GO; GO:0005922; C:connexin complex; ISS:BHF-UCL.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR   GO; GO:0005921; C:gap junction; TAS:ProtInc.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0014704; C:intercalated disc; TAS:BHF-UCL.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0045202; C:synapse; IEA:GOC.
DR   GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR   GO; GO:0086077; F:gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling; ISS:BHF-UCL.
DR   GO; GO:0086020; F:gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling; NAS:BHF-UCL.
DR   GO; GO:0005216; F:ion channel activity; IEA:Ensembl.
DR   GO; GO:0086014; P:atrial cardiac muscle cell action potential; TAS:BHF-UCL.
DR   GO; GO:0086053; P:AV node cell to bundle of His cell communication by electrical coupling; ISS:BHF-UCL.
DR   GO; GO:0048738; P:cardiac muscle tissue development; IEA:Ensembl.
DR   GO; GO:0048468; P:cell development; IEA:Ensembl.
DR   GO; GO:0007043; P:cell-cell junction assembly; TAS:ProtInc.
DR   GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR   GO; GO:0007268; P:chemical synaptic transmission; IEA:Ensembl.
DR   GO; GO:0016264; P:gap junction assembly; ISS:BHF-UCL.
DR   GO; GO:0006936; P:muscle contraction; TAS:ProtInc.
DR   GO; GO:0086021; P:SA node cell to atrial cardiac muscle cell communication by electrical coupling; NAS:BHF-UCL.
DR   GO; GO:0001570; P:vasculogenesis; IEA:Ensembl.
DR   GO; GO:0007601; P:visual perception; IEA:Ensembl.
DR   Gene3D; 1.20.1440.80; -; 1.
DR   InterPro; IPR000500; Connexin.
DR   InterPro; IPR002265; Connexin45.
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   PRINTS; PR01136; CONNEXINA6.
DR   SMART; SM00037; CNX; 1.
DR   SMART; SM01089; Connexin_CCC; 1.
DR   PROSITE; PS00407; CONNEXINS_1; 1.
DR   PROSITE; PS00408; CONNEXINS_2; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Cell junction; Cell membrane; Gap junction; Membrane;
KW   Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..396
FT                   /note="Gap junction gamma-1 protein"
FT                   /id="PRO_0000057826"
FT   TOPO_DOM        1..22
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        23..45
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        46..75
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        76..95
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        96..175
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        176..198
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        199..228
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        229..248
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        249..396
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          145..165
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          353..396
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        375..396
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CONFLICT        382
FT                   /note="T -> A (in Ref. 2; BAG54030)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        392
FT                   /note="T -> N (in Ref. 1; AAA60458 and 4; AAH96213/
FT                   AAH96214/AAH96215/AAH96216)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   396 AA;  45470 MW;  C9F67C1D926D40DF CRC64;
     MSWSFLTRLL EEIHNHSTFV GKIWLTVLIV FRIVLTAVGG ESIYYDEQSK FVCNTEQPGC
     ENVCYDAFAP LSHVRFWVFQ IILVATPSVM YLGYAIHKIA KMEHGEADKK AARSKPYAMR
     WKQHRALEET EEDNEEDPMM YPEMELESDK ENKEQSQPKP KHDGRRRIRE DGLMKIYVLQ
     LLARTVFEVG FLIGQYFLYG FQVHPFYVCS RLPCPHKIDC FISRPTEKTI FLLIMYGVTG
     LCLLLNIWEM LHLGFGTIRD SLNSKRRELE DPGAYNYPFT WNTPSAPPGY NIAVKPDQIQ
     YTELSNAKIA YKQNKANTAQ EQQYGSHEEN LPADLEALQR EIRMAQERLD LAVQAYSHQN
     NPHGPREKKA KVGSKAGSNK STASSKSGDG KTSVWI
//