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Aliases for GJC1 Gene

Aliases for GJC1 Gene

  • Gap Junction Protein, Gamma 1, 45kDa 2 3
  • Gap Junction Alpha-7 Protein 3 4
  • Connexin 45 2 3
  • Connexin-45 3 4
  • CX45 3 4
  • GJA7 3 4
  • Gap Junction Protein, Alpha 7, 45kDa 2
  • Gap Junction Gamma-1 Protein 3

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, 45kDa) is a Protein Coding gene. Diseases associated with GJC1 include cystic fibrosis. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include ion channel activity and gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot 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 (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct permeability, selectivity and functional properties. Pannexins are related to connexins and can also form gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a family of proteins called innexins form these channels. Gap channels are regulated through post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly and their physiological properties. They are continuously synthesized and degraded, allowing tissues to rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and cardiovascular disease.

Gene Wiki entry for GJC1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJC1 Gene

Genomics for GJC1 Gene

Regulatory Elements for GJC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GJC1 Gene

Start:
44,798,448 bp from pter
End:
44,830,816 bp from pter
Size:
32,369 bases
Orientation:
Minus strand

Genomic View for GJC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GJC1 Gene at MOPED

Post-translational modifications for GJC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJC1 Gene

No data available for DME Specific Peptides for GJC1 Gene

Domains for GJC1 Gene

Gene Families for GJC1 Gene

HGNC:
  • GJ :Ion channels / Gap junction proteins (connexins)
IUPHAR :

Suggested Antigen Peptide Sequences for GJC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P36383

UniProtKB/Swiss-Prot:

CXG1_HUMAN :
  • P36383
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

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:0005515 protein binding --
genes like me logo Genes that share ontologies with GJC1: view
genes like me logo Genes that share phenotypes with GJC1: view

Animal Model Products

miRNA for GJC1 Gene

miRTarBase miRNAs that target GJC1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJC1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for GJC1 Gene COMPARTMENTS Subcellular localization image for GJC1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytoskeleton 1
extracellular 1
peroxisome 1

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 connexon complex IEA --
GO:0014704 intercalated disc TAS 23348765
genes like me logo Genes that share ontologies with GJC1: view

Pathways for GJC1 Gene

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

Pathways by source for GJC1 Gene

1 Qiagen pathway for GJC1 Gene
1 BioSystems pathway for GJC1 Gene

Gene Ontology (GO) - Biological Process for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0006810 transport NAS 7966354
GO:0006936 muscle contraction TAS 7966354
GO:0007043 cell-cell junction assembly TAS 7966354
GO:0007267 cell-cell signaling --
genes like me logo Genes that share ontologies with GJC1: view

Compounds for GJC1 Gene

(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]

(4) IUPHAR Ligand for GJC1 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(4) Novoseek inferred chemical compound relationships for GJC1 Gene

Compound -log(P) Hits PubMed IDs
connexin 45 95.8 49
forskolin 19.2 1
sucrose 8.9 2
paraffin 5.59 2
genes like me logo Genes that share compounds with GJC1: view

Transcripts for GJC1 Gene

Unigene Clusters for GJC1 Gene

Gap junction protein, gamma 1, 45kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJC1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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
ECgene alternative splicing isoforms for
GJC1

Expression for GJC1 Gene

mRNA expression in normal human tissues 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 (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GJC1 Gene

SOURCE GeneReport for Unigene cluster for GJC1 Gene Hs.712052

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

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.92 (n)
  • 100 (a)
GJC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJC1 35
  • 91.75 (n)
  • 96.21 (a)
GJC1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJC1 35
  • 92.59 (n)
  • 97.97 (a)
GJC1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjc1 35
  • 92.51 (n)
  • 97.22 (a)
Gjc1 16
Gjc1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJC1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJC1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjc1 35
  • 91.75 (n)
  • 97.22 (a)
chicken
(Gallus gallus)
Aves GJC1 35
  • 76.9 (n)
  • 85.17 (a)
GJC1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC52735 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gjc1 35
  • 69.3 (n)
  • 72.96 (a)
zebrafish
(Danio rerio)
Actinopterygii cx43.4 35
GJC1 36
  • 59 (a)
OneToOne
LOC564307 35
  • 64.47 (n)
  • 61.52 (a)
Species with no ortholog for GJC1:
  • 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)

Paralogs for GJC1 Gene

Paralogs for GJC1 Gene

Selected SIMAP similar genes for GJC1 Gene using alignment to 5 proteins:

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

Variants for GJC1 Gene

Sequence variations from dbSNP and Humsavar for GJC1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs11315 -- 44,798,743(+) TAACA(C/G)TTAGT utr-variant-3-prime
rs1003591 -- 44,807,198(+) GACAG(A/T)TTCTT intron-variant
rs1062354 -- 44,801,900(-) Gggcc(A/G)ggcgc utr-variant-3-prime
rs1065390 -- 44,802,083(-) TCACC(A/T)CCCCA utr-variant-3-prime
rs1122109 -- 44,807,170(-) AAATG(G/T)ATTTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv908286 CNV Loss 21882294
nsv833456 CNV Gain+Loss 17160897
nsv828021 CNV Gain 20364138
nsv908288 CNV Loss 21882294
esv2674378 CNV Deletion 23128226
nsv523493 CNV Loss 19592680

Relevant External Links for GJC1 Gene

HapMap Linkage Disequilibrium report
GJC1

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

Disorders for GJC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for GJC1 Gene including...

Search for GJC1 Gene in MalaCards »

(8) Novoseek inferred disease relationships for GJC1 Gene

Disease -log(P) Hits PubMed IDs
arrhythmia 24.5 1
ventricular arrhythmia 24.3 2
nasopharyngeal carcinoma 19 1
lung carcinoma 16.9 1
heart failure 9.1 1

Relevant External Links for GJC1

Genetic Association Database (GAD)
GJC1
Human Genome Epidemiology (HuGE) Navigator
GJC1
genes like me logo Genes that share disorders with GJC1: view

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

Publications for GJC1 Gene

  1. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. (PMID: 7966354) Kanter H.L. … Beyer E.C. (J. Mol. Cell. Cardiol. 1994) 2 3 4 23
  2. Chamber-related differences in connexin expression in the human heart. (PMID: 10336839) Vozzi C. … Severs N.J. (J. Mol. Cell. Cardiol. 1999) 3 23
  3. [Expression of connexin43 and connexin45 in nasopharyngeal carcinoma]. (PMID: 12452056) Xiang Q. … Li G.Y. (Ai Zheng 2002) 3 23
  4. Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45. (PMID: 17189315) Rackauskas M. … Bukauskas F.F. (Biophys. J. 2007) 3 23
  5. Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. (PMID: 17546509) Kotsias B.A. … Peracchia C. (J. Membr. Biol. 2006) 3 23

Products for GJC1 Gene

Sources for GJC1 Gene

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