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GJC1 gap junction protein gamma 1 [ Homo sapiens (human) ]

Gene ID: 10052, updated on 5-Mar-2024

Summary

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Official Symbol
GJC1provided by HGNC
Official Full Name
gap junction protein gamma 1provided by HGNC
Primary source
HGNC:HGNC:4280
See related
Ensembl:ENSG00000182963 MIM:608655; AllianceGenome:HGNC:4280
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CX45; GJA7
Summary
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]
Expression
Broad expression in endometrium (RPKM 8.2), placenta (RPKM 7.4) and 14 other tissues See more
Orthologs
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Genomic context

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See GJC1 in Genome Data Viewer
Location:
17q21.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44794104..44831364, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45648941..45685306, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42875816..42908202, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DBF4B-CDC7 kinase regulatory subunit Neighboring gene uncharacterized LOC107985044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42830428-42830928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42835997-42836548 Neighboring gene ADAM metallopeptidase domain 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42853416-42853916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42856011-42856852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8602 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42907313-42908286 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42908287-42909260 Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42943931-42944112 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease. Li RG, et al. Heart Rhythm, 2021 May. PMID 33429106
  2. Direct visualization of interaction between calmodulin and connexin45. Zou J, et al. Biochem J, 2017 Nov 27. PMID 28963343, Free PMC Article
  3. Enhanced generation of human induced pluripotent stem cells by ectopic expression of Connexin 45. Ke Q, et al. Sci Rep, 2017 Mar 28. PMID 28352086, Free PMC Article
  4. DNA methylation analyses of the connexin gene family reveal silencing of GJC1 (Connexin45) by promoter hypermethylation in colorectal cancer. Sirnes S, et al. Epigenetics, 2011 May. PMID 21406965
  5. Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment. Ouyang XM, et al. Genet Test Mol Biomarkers, 2011 May. PMID 21254920, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The role of the Cx43/Cx45 gap junction voltage gating on wave propagation and arrhythmogenic activity in cardiac tissue.
    Title: The role of the Cx43/Cx45 gap junction voltage gating on wave propagation and arrhythmogenic activity in cardiac tissue.
  2. Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.
    Title: Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.
  3. Identification of Cx45 as a Major Component of GJs in HeLa Cells.
    Title: Identification of Cx45 as a Major Component of GJs in HeLa Cells.
  4. Cx40 or Cx45 Gap junctions showed little changes in the extent of voltage-dependent-gating, but in both cases with a faster deactivation kinetics at high temperatures.
    Title: Effects of temperature on transjunctional voltage-dependent gating kinetics in Cx45 and Cx40 gap junction channels.
  5. The HG-stimulated proliferative capacity was abolished upon decreasing O-GlcNAcylation, which could be reversed gradually by the simultaneous overexpression of APA1 and GJC1. Therefore, GJC1 could be a potential target for preventing liver cancer in patients with diabetes.
    Title: High glucose stimulates proliferative capacity of liver cancer cells possibly via O-GlcNAcylation-dependent transcriptional regulation of GJC1.
  6. our data highlighted the critical role of CX45 in reprogramming and may increase the cell division rate and result in an accelerated kinetics of iPSCs production.
    Title: Enhanced generation of human induced pluripotent stem cells by ectopic expression of Connexin 45.
  7. human Cx40/Cx45 and Cx43/Cx45 heterotypic gap junctions were investigated by recombinant expression in GJ deficient cells.
    Title: Junctional delay, frequency, and direction-dependent uncoupling of human heterotypic Cx45/Cx43 gap junction channels.
  8. Observations involving both N- and C-domains of CaM to interact with the Cx45 peptide differ from the embraced interaction with Cx50 from another connexin family
    Title: Direct visualization of interaction between calmodulin and connexin45.
  9. Human deltoid muscle biopsies of 5 Chilean dysferlinopathy patients exhibited the presence of muscular connexins (Cx40.1, Cx43 and Cx45).
    Title: The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
  10. Connexin45 has much more rapid gating kinetics than connexin43
    Title: Alterations in gap junction connexin43/connexin45 ratio mediate a transition from quiescence to excitation in a mathematical model of the myometrium.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686P0738

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling ISS
Inferred from Sequence or Structural Similarity
more info
  
enables gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling NAS
Non-traceable Author Statement
more info
 PubMed 
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in AV node cell to bundle of His cell communication by electrical coupling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in SA node cell to atrial cardiac muscle cell communication by electrical coupling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in atrial cardiac muscle cell action potential TAS
Traceable Author Statement
more info
 PubMed 
involved_in cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in cell-cell junction assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in gap junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in vasculogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in gap junction TAS
Traceable Author Statement
more info
 PubMed 
located_in intercalated disc TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
gap junction gamma-1 protein
Names
CTC-296K1.4
connexin-45
gap junction alpha-7 protein
gap junction protein, gamma 1, 45kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080383.2 → NP_001073852.1  gap junction gamma-1 protein

    See identical proteins and their annotated locations for NP_001073852.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005180, BC096216, DA845933
    Consensus CDS
    CCDS11487.1
    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Related
    ENSP00000466339.1, ENST00000590758.3
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 255
    Connexin

  2. NM_005497.4 → NP_005488.2  gap junction gamma-1 protein

    See identical proteins and their annotated locations for NP_005488.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005180, BC096216, CN299428
    Consensus CDS
    CCDS11487.1
    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Related
    ENSP00000467201.1, ENST00000592524.6
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 255
    Connexin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44794104..44831364 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450526.1 → XP_024306294.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Related
    ENSP00000333193.3, ENST00000330514.4
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 255
    Connexin

  2. XM_024450527.2 → XP_024306295.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 255
    Connexin

  3. XM_047435078.1 → XP_047291034.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  4. XM_047435079.1 → XP_047291035.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  5. XM_047435080.1 → XP_047291036.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  6. XM_047435077.1 → XP_047291033.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

RNA

  1. XR_934346.4 RNA Sequence

  2. XR_007065255.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45648941..45685306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314641.1 → XP_054170616.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  2. XM_054314640.1 → XP_054170615.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  3. XM_054314642.1 → XP_054170617.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  4. XM_054314644.1 → XP_054170619.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  5. XM_054314643.1 → XP_054170618.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

  6. XM_054314639.1 → XP_054170614.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KW68, P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0

RNA

  1. XR_008484768.1 RNA Sequence

  2. XR_008484769.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P36383.2 GenPept UniProtKB/Swiss-Prot:P36383

Gene LinkOut

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