Mus musculus Gene: Gjb1 | |||||||||||||
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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
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Protein Structure |
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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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome X:101376378-101385629 | ||||||||||||
Strand | Forward strand | ||||||||||||
Band | D | ||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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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
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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 | ||||||||||||