This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] See more...

Aliases for GJC1 Gene

Aliases for GJC1 Gene

  • Gap Junction Protein Gamma 1 2 3 5
  • Gap Junction Protein, Gamma 1, 45kDa 2 3
  • Gap Junction Alpha-7 Protein 3 4
  • Gap Junction Gamma-1 Protein 3 4
  • Connexin-45 3 4
  • GJA7 3 4
  • Gap Junction Protein, Alpha 7, 45kDa 2
  • CTC-296K1.4 3
  • Connexin 45 2
  • CX45 3
  • Cx45 4

External Ids for GJC1 Gene

Previous HGNC Symbols for GJC1 Gene

  • GJA7

Previous GeneCards Identifiers for GJC1 Gene

  • GC17M038013
  • GC17M040694
  • GC17M038427
  • GC17M038892
  • GC17M038891
  • GC17M035770
  • GC17M040237
  • GC17M042875
  • GC17M038640

Summaries for GJC1 Gene

Entrez Gene Summary for GJC1 Gene

  • This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJC1 Gene

GJC1 (Gap Junction Protein Gamma 1) is a Protein Coding gene. Diseases associated with GJC1 include Oculodentodigital Dysplasia and Sinoatrial Node Disease. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include ion channel activity and gap junction channel activity. An important paralog of this gene is GJC2.

UniProtKB/Swiss-Prot Summary for GJC1 Gene

  • 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.

Tocris Summary for GJC1 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJC1 Gene

Additional gene information for GJC1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJC1 Gene

Genomics for GJC1 Gene

GeneHancer (GH) Regulatory Elements for GJC1 Gene

Promoters and enhancers for GJC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J044827 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.1 1065 4.7 HNRNPK CTCF PHF8 ZIC2 POLR2A ZBTB10 ZNF423 ZBTB26 SAP30 KLF7 GJC1 EFTUD2 FAM187A ENSG00000267344 piR-58411
GH17J044898 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 35.3 -69.3 -69257 4.5 RXRA EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC USF1 EFTUD2 FAM187A CCDC103 lnc-GFAP-3 GJC1 ENSG00000267344 piR-56227
GH17J044916 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 25.5 -87.2 -87171 4 CTCF TCF12 NCOR1 JUND ZIC2 ZBTB7A PCBP1 DEK SRSF1 SMC3 GFAP LOC105371793 GJC1 FAM187A EFTUD2 ENSG00000267405
GH17J044818 Enhancer 1.1 ENCODE dbSUPER 28.4 +10.4 10421 3.4 ZSCAN5C TCF12 RBAK JUND FOS ZNF639 ZNF10 ZNF623 TRIM28 ZNF510 UBTF ASB16-AS1 GJC1 TMUB2 MPP2 GPATCH8 LINC02210 ENSG00000260793 EFTUD2 HIGD1B
GH17J044977 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 21.8 -149.0 -148983 5.2 EP300 TCF12 FOS FOXA1 TRIM28 ZNF662 TGIF2 ZNF274 TEAD1 CTCF UBTF LINC02210 GJC1 NMT1 ENSG00000266918 KIF18B FAM171A2 GFAP MAP3K14-AS1 GPATCH8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJC1

Top Transcription factor binding sites by QIAGEN in the GJC1 gene promoter:
  • AML1a
  • AP-4
  • Evi-1
  • HOXA5
  • Ik-2

Genomic Locations for GJC1 Gene

Genomic Locations for GJC1 Gene
chr17:44,793,954-44,830,816
(GRCh38/hg38)
Size:
36,863 bases
Orientation:
Minus strand
chr17:42,875,816-42,908,184
(GRCh37/hg19)
Size:
32,369 bases
Orientation:
Minus strand

Genomic View for GJC1 Gene

Genes around GJC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJC1 Gene

Proteins for GJC1 Gene

  • Protein details for GJC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36383-CXG1_HUMAN
    Recommended name:
    Gap junction gamma-1 protein
    Protein Accession:
    P36383
    Secondary Accessions:
    • B3KW68
    • Q4VAY0

    Protein attributes for GJC1 Gene

    Size:
    396 amino acids
    Molecular mass:
    45470 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJC1 Gene

neXtProt entry for GJC1 Gene

Post-translational modifications for GJC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GJC1 Gene

Domains & Families for GJC1 Gene

Gene Families for GJC1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for GJC1 Gene

Blocks:
  • Connexin, N terminal
  • Gap junction alpha-6 protein (Cx45) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GJC1 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction alpha-7 protein (CXG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P36383

UniProtKB/Swiss-Prot:

CXG1_HUMAN :
  • Belongs to the connexin family. Gamma-type subfamily.
Family:
  • Belongs to the connexin family. Gamma-type subfamily.
genes like me logo Genes that share domains with GJC1: view

Function for GJC1 Gene

Molecular function for GJC1 Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for GJC1 Gene

Gene Ontology (GO) - Molecular Function for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005243 gap junction channel activity IEA --
GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling NAS 21357845
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling ISS --
genes like me logo Genes that share ontologies with GJC1: view
genes like me logo Genes that share phenotypes with GJC1: view

Animal Models for GJC1 Gene

MGI Knock Outs for GJC1:
  • Gjc1 Gjc1<tm1Kwi>
  • Gjc1 Gjc1<tm2.1Kni>
  • Gjc1 Gjc1<tm1.1(KOMP)Vlcg>
  • Gjc1 Gjc1<tm1Kni>
  • Gjc1 Gjc1<tm1.2(Gjd2)Kwi>
  • Gjc1 Gjc1<tm1.1Kni>
  • Gjc1 Gjc1<tm1.1Weil>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GJC1 Gene

Localization for GJC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJC1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJC1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005921 gap junction TAS 7966354
GO:0005922 connexin complex ISS 15044680
GO:0014704 intercalated disc TAS 23348765
genes like me logo Genes that share ontologies with GJC1: view

Pathways & Interactions for GJC1 Gene

genes like me logo Genes that share pathways with GJC1: view

Pathways by source for GJC1 Gene

1 GeneGo (Thomson Reuters) pathway for GJC1 Gene
  • Cell adhesion Gap junctions
2 Qiagen pathways for GJC1 Gene
  • Signaling in Gap Junctions
  • Signaling in Gap Junctions

Gene Ontology (GO) - Biological Process for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0006936 muscle contraction TAS 7966354
GO:0007043 cell-cell junction assembly TAS 7966354
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA --
genes like me logo Genes that share ontologies with GJC1: view

No data available for SIGNOR curated interactions for GJC1 Gene

Drugs & Compounds for GJC1 Gene

(11) Drugs for GJC1 Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(2) Additional Compounds for GJC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJC1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 955091-53-9
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 197250-15-0
Gap 27 Selective gap junction blocker 198284-64-9
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 1315378-72-3
genes like me logo Genes that share compounds with GJC1: view

Transcripts for GJC1 Gene

mRNA/cDNA for GJC1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJC1 Gene

No ASD Table

Relevant External Links for GJC1 Gene

GeneLoc Exon Structure for
GJC1

Expression for GJC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GJC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJC1 Gene

This gene is overexpressed in Colon - Sigmoid (x5.7).

Protein differential expression in normal tissues from HIPED for GJC1 Gene

This gene is overexpressed in Urinary Bladder (41.6) and Colon (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GJC1 Gene



Protein tissue co-expression partners for GJC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJC1

SOURCE GeneReport for Unigene cluster for GJC1 Gene:

Hs.712052

Evidence on tissue expression from TISSUES for GJC1 Gene

  • Heart(2.8)
  • Muscle(2.8)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with GJC1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GJC1 Gene

Orthologs for GJC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJC1 31 30
  • 99.92 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJC1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJC1 31 30
  • 92.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gjc1 17 31 30
  • 92.51 (n)
cow
(Bos Taurus)
Mammalia GJC1 31 30
  • 91.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjc1 30
  • 91.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GJC1 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJC1 31 30
  • 76.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 83 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gjc1 30
  • 69.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52735 30
zebrafish
(Danio rerio)
Actinopterygii LOC564307 30
  • 64.47 (n)
GJC1 31
  • 59 (a)
OneToOne
cx43.4 30
Species where no ortholog for GJC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJC1 Gene

ENSEMBL:
Gene Tree for GJC1 (if available)
TreeFam:
Gene Tree for GJC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJC1: view image

Paralogs for GJC1 Gene

(19) SIMAP similar genes for GJC1 Gene using alignment to 5 proteins:

  • CXG1_HUMAN
  • K7EM78_HUMAN
  • K7ENT9_HUMAN
  • K7EQ14_HUMAN
  • K7ERH3_HUMAN
genes like me logo Genes that share paralogs with GJC1: view

Variants for GJC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJC1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
708726 Benign: not provided 44,805,605(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GJC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GJC1 Gene

Variant ID Type Subtype PubMed ID
esv2674378 CNV deletion 23128226
esv3554461 CNV deletion 23714750
esv3640655 CNV loss 21293372
nsv1118596 CNV duplication 24896259
nsv1146669 OTHER inversion 26484159
nsv523493 CNV loss 19592680
nsv828021 CNV gain 20364138
nsv833456 CNV gain+loss 17160897

Variation tolerance for GJC1 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJC1 Gene

Human Gene Mutation Database (HGMD)
GJC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJC1 Gene

Disorders for GJC1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for GJC1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GJC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GJC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GJC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GJC1 Gene

Publications for GJC1 Gene

  1. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. (PMID: 7966354) Kanter HL … Beyer EC (Journal of molecular and cellular cardiology 1994) 2 3 4 23 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45. (PMID: 17189315) Rackauskas M … Bukauskas FF (Biophysical journal 2007) 3 23 54
  4. Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. (PMID: 17546509) Kotsias BA … Peracchia C (The Journal of membrane biology 2006) 3 23 54
  5. Association with ZO-1 correlates with plasma membrane partitioning in truncated connexin45 mutants. (PMID: 16463142) Laing JG … Steinberg TH (The Journal of membrane biology 2005) 3 23 54

Products for GJC1 Gene

Sources for GJC1 Gene