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Gjc1 gap junction protein, gamma 1 [ Mus musculus (house mouse) ]

Gene ID: 14615, updated on 18-Sep-2024

Summary

Official Symbol
Gjc1provided by MGI
Official Full Name
gap junction protein, gamma 1provided by MGI
Primary source
MGI:MGI:95718
See related
Ensembl:ENSMUSG00000034520 AllianceGenome:MGI:95718
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cx45; Cxnq; Gja7; Cnx45; Gja-7; C130009G16Rik
Summary
Enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling and ion channel activity. Involved in AV node cell to bundle of His cell communication by electrical coupling and gap junction assembly. Acts upstream of or within several processes, including chemical synaptic transmission; circulatory system development; and visual perception. Located in gap junction. Part of connexin complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Orthologous to human GJC1 (gap junction protein gamma 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E11.5 (RPKM 15.7), limb E14.5 (RPKM 10.7) and 15 other tissues See more
Orthologs
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Genomic context

See Gjc1 in Genome Data Viewer
Location:
11 E1; 11 66.48 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (102690303..102710512, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (102799477..102819686, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene DBF4 zinc finger B Neighboring gene proteasome (prosome, macropain) subunit, alpha type 1 pseudogene Neighboring gene a disintegrin and metallopeptidase domain 11 Neighboring gene predicted gene, 22683 Neighboring gene HIG1 domain family, member 1B

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables gap junction channel activity ISO
Inferred from Sequence Orthology
more info
 
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables monoatomic ion channel activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of connexin complex IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gap junction gamma-1 protein
Names
connexin q
connexin-45
gap junction alpha-7 protein
gap junction membrane channel protein alpha 7

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_001159382.1NP_001152854.1  gap junction gamma-1 protein

    See identical proteins and their annotated locations for NP_001152854.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AL929067, BC050840
    Consensus CDS
    CCDS25504.1
    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Related
    ENSMUSP00000066901.6, ENSMUST00000068933.12
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  2. NM_001159383.1NP_001152855.1  gap junction gamma-1 protein

    See identical proteins and their annotated locations for NP_001152855.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AL929067, BC071230
    Consensus CDS
    CCDS25504.1
    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Related
    ENSMUSP00000090228.5, ENSMUST00000092567.11
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  3. NM_001359040.1NP_001345969.1  gap junction gamma-1 protein

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AL361625, AL929067, BC050840, BC071230, BX520052
    Consensus CDS
    CCDS25504.1
    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  4. NM_008122.3NP_032148.1  gap junction gamma-1 protein

    See identical proteins and their annotated locations for NP_032148.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AL929067
    Consensus CDS
    CCDS25504.1
    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Related
    ENSMUSP00000102690.3, ENSMUST00000107075.9
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    102690303..102710512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011248736.3XP_011247038.1  gap junction gamma-1 protein isoform X1

    See identical proteins and their annotated locations for XP_011247038.1

    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  2. XM_030245572.2XP_030101432.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  3. XM_006532227.5XP_006532290.1  gap junction gamma-1 protein isoform X1

    See identical proteins and their annotated locations for XP_006532290.1

    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin
  4. XM_030245573.2XP_030101433.1  gap junction gamma-1 protein isoform X1

    UniProtKB/Swiss-Prot
    P28229
    UniProtKB/TrEMBL
    A0A654IER4
    Conserved Domains (1) summary
    pfam00029
    Location:2255
    Connexin