ENSG00000182963


Homo sapiens

Features
Gene ID: ENSG00000182963
  
Biological name :GJC1
  
Synonyms : gap junction protein gamma 1 / GJC1 / P36383
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.31
Gene start: 44798448
Gene end: 44830816
  
Corresponding Affymetrix probe sets: 208460_at (Human Genome U133 Plus 2.0 Array)   228563_at (Human Genome U133 Plus 2.0 Array)   228776_at (Human Genome U133 Plus 2.0 Array)   243502_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468716
Ensembl peptide - ENSP00000467626
Ensembl peptide - ENSP00000468258
Ensembl peptide - ENSP00000333193
Ensembl peptide - ENSP00000411528
Ensembl peptide - ENSP00000466339
Ensembl peptide - ENSP00000466392
Ensembl peptide - ENSP00000467090
Ensembl peptide - ENSP00000467201
NCBI entrez gene - 10052     See in Manteia.
OMIM - 608655
RefSeq - XM_005256921
RefSeq - NM_001080383
RefSeq - NM_005497
RefSeq - XM_005256920
RefSeq Peptide - NP_001073852
RefSeq Peptide - NP_005488
swissprot - P36383
swissprot - K7ENT9
swissprot - K7EQ14
swissprot - Q5H9P2
swissprot - K7ERH3
swissprot - K7EM78
Ensembl - ENSG00000182963
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 GJC1ENSGALG00000000997Gallus gallus
 Gjc1ENSMUSG00000034520Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GJC2 / Q5T442 / gap junction protein gamma 2ENSG0000019883551
GJA8 / P48165 / gap junction protein alpha 8ENSG0000012163432
GJA3 / Q9Y6H8 / gap junction protein alpha 3ENSG0000012174332
GJA4 / P35212 / gap junction protein alpha 4ENSG0000018751331
GJA5 / P36382 / gap junction protein alpha 5ENSG0000026510730
GJA1 / P17302 / gap junction protein alpha 1ENSG0000015266130
GJA10 / Q969M2 / gap junction protein alpha 10ENSG0000013535529
GJA9 / P57773 / gap junction protein alpha 9ENSG0000013123328
GJD2 / Q9UKL4 / gap junction protein delta 2ENSG0000015924827
GJD3 / Q8N144 / gap junction protein delta 3ENSG0000018315323


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR002265  Gap junction alpha-6 protein (Cx45)
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0007043 cell-cell junction assembly TAS
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0016264 gap junction assembly IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0048468 cell development IEA
 biological_processGO:0048738 cardiac muscle tissue development IEA
 biological_processGO:0086014 atrial cardiac muscle cell action potential TAS
 biological_processGO:0086021 SA node cell to atrial cardiac muscle cell communication by electrical coupling NAS
 biological_processGO:0086053 AV node cell to bundle of His cell communication by electrical coupling IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005921 gap junction TAS
 cellular_componentGO:0005922 connexin complex ISS
 cellular_componentGO:0014704 intercalated disc TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005243 gap junction channel activity IEA
 molecular_functionGO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling NAS
 molecular_functionGO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling IEA


Pathways (from Reactome)
Pathway description
Electric Transmission Across Gap Junctions
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000159248 GJD2 / Q9UKL4 / gap junction protein delta 2  / complex
 ENSG00000182963 GJC1 / P36383 / gap junction protein gamma 1  / complex






 

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