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

    Gene ID: 10052, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44794104..44831364, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45648941..45685306, complement)
    RS_2024_09 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 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. Defective regulation of gap junctional coupling in cystic fibrosis pancreatic duct cells. Chanson M, et al. J Clin Invest, 1999 Jun. PMID 10377174, Free PMC Article
    2. Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease. Li RG, et al. Heart Rhythm, 2021 May. PMID 33429106
    3. Association with ZO-1 correlates with plasma membrane partitioning in truncated connexin45 mutants. Laing JG, et al. J Membr Biol, 2005 Sep. PMID 16463142
    4. 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
    5. 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

    See all (57) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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