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

Gene ID: 10052, updated on 22-Sep-2022

Summary

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

See GJC1 in Genome Data Viewer
Location:
17q21.31
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44794104..44831364, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45652399..45684776, 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 DBF4 zinc finger B Neighboring gene uncharacterized LOC107985044 Neighboring gene ADAM metallopeptidase domain 11 Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686P0738

Gene Ontology Provided by GOA

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
PubMed 
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 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
PubMed 
part_of connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 plasma membrane TAS
Traceable Author Statement
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001080383.2NP_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
    P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Related
    ENSP00000466339.1, ENST00000590758.3
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  2. NM_005497.4NP_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
    P36383, Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Related
    ENSP00000467201.1, ENST00000592524.6
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_024450526.1XP_024306294.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Related
    ENSP00000333193.3, ENST00000330514.4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  2. XM_024450527.2XP_024306295.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  3. XM_047435078.1XP_047291034.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
  4. XM_047435079.1XP_047291035.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
  5. XM_047435080.1XP_047291036.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q4VAY0
    UniProtKB/TrEMBL
    A0A654IDC0
  6. XM_047435077.1XP_047291033.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    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
    45652399..45684776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)