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

Gene ID: 10052, updated on 15-Apr-2019

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
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

Genomic context

See GJC1 in Genome Data Viewer
Location:
17q21.31
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (44794988..44831364, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42875816..42908179, 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

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Electric Transmission Across Gap Junctions, organism-specific biosystem (from REACTOME)
    Electric Transmission Across Gap Junctions, organism-specific biosystemElectrical synapses are found in all nervous systems, including the human brain. The membranes of the two communicating neurons come extremely close at the synapse and are actually linked together by...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Transmission across Electrical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Electrical Synapses, organism-specific biosystemElectrical transmission across nerve cells is accomplished when the current generated in the upstream neuron spreads to the downstream neuron through a path of low electrical resistance. In neurons t...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

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
AV node cell to bundle of His cell communication by electrical coupling ISS
Inferred from Sequence or Structural Similarity
more info
 
SA node cell to atrial cardiac muscle cell communication by electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
atrial cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
cell development IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction assembly TAS
Traceable Author Statement
more info
PubMed 
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
gap junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
gap junction assembly TAS
Traceable Author Statement
more info
 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
gap junction TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intercalated disc TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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)

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_001080383.1NP_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
    Related
    ENSP00000411528.1, ENST00000426548.5
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin; 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
    Related
    ENSP00000467201.1, ENST00000592524.6
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    44794988..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

    Related
    ENSP00000333193.3, ENST00000330514.4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin; Connexin
  2. XM_024450527.1XP_024306295.1  gap junction gamma-1 protein isoform X1

    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin; Connexin
  3. XM_005256920.1XP_005256977.1  gap junction gamma-1 protein isoform X1

    See identical proteins and their annotated locations for XP_005256977.1

    UniProtKB/Swiss-Prot
    P36383
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin; Connexin
  4. XM_024450525.1XP_024306293.1  gap junction gamma-1 protein isoform X1

    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin; Connexin

RNA

  1. XR_934346.3 RNA Sequence

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