Mus musculus Gene: Gjb1
Summary
InnateDB Gene IDBG-163754.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gjb1
Gene Name gap junction protein, beta 1
Synonyms AI118175; Cnx32; Cx32; Gjb-1
Species Mus musculus
Ensembl Gene ENSMUSG00000047797
Encoded Proteins
gap junction protein, beta 1
gap junction protein, beta 1
gap junction protein, beta 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000169562:
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:101376378-101385629
Strand Forward strand
Band D
Transcripts
ENSMUST00000052130 ENSMUSP00000062723
ENSMUST00000119080 ENSMUSP00000113904
ENSMUST00000119190 ENSMUSP00000113516
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005243 gap junction channel activity
GO:0042803 protein homodimerization activity
Biological Process
GO:0007154 cell communication
GO:0015868 purine ribonucleotide transport
GO:0051259 protein oligomerization
GO:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0005922 connexon complex
GO:0016021 integral component of membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Gap junction trafficking and regulation pathway
Gap junction assembly pathway
Membrane Trafficking pathway
Transport of connexins along the secretory pathway pathway
Gap junction trafficking pathway
Oligomerization of connexins into connexons pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Oligomerization of connexins into connexons pathway
Transport of connexins along the secretory pathway pathway
Gap junction assembly pathway
Gap junction trafficking pathway
Gap junction trafficking and regulation pathway
Membrane Trafficking pathway
Oligomerization of connexins into connexons pathway
Gap junction trafficking pathway
Gap junction assembly pathway
Gap junction trafficking and regulation pathway
Transport of connexins along the secretory pathway pathway
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P28230
TrEMBL
UniProt Splice Variant
Entrez Gene 14618
UniGene
RefSeq NM_008124 XM_006527825 XM_006527826
OMIM
CCDS CCDS30314
HPRD
IMGT
MGI ID MGI:95719
MGI Symbol Gjb1
EMBL AJ271753 BC026833 M63802 M81447
GenPept AAA37296 AAA37496 AAH26833 CAB72446
RNA Seq Atlas 14618