InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GJB1

Summary

InnateDB Protein

IDBP-75315.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GJB1

Protein Name

gap junction protein, beta 1, 32kDa

Synonyms

CMTX; CMTX1; CX32;

Species

Homo sapiens

Ensembl Protein

ENSP00000354900

InnateDB Gene

IDBG-75309 (GJB1)

Protein Structure

UniProt Annotation

Function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Disease Associations

Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. {ECO:0000269PubMed:11723288, ECO:0000269PubMed:11835375, ECO:0000269PubMed:12185164, ECO:0000269PubMed:12207932, ECO:0000269PubMed:12325071, ECO:0000269PubMed:12402337, ECO:0000269PubMed:12477701, ECO:0000269PubMed:12497641, ECO:0000269PubMed:12536289, ECO:0000269PubMed:12707076, ECO:0000269PubMed:14627639, ECO:0000269PubMed:15241803, ECO:0000269PubMed:15468313, ECO:0000269PubMed:15852376, ECO:0000269PubMed:7477983, ECO:0000269PubMed:7833935, ECO:0000269PubMed:8004109, ECO:0000269PubMed:8162049, ECO:0000269PubMed:8266101, ECO:0000269PubMed:8698335, ECO:0000269PubMed:8733054, ECO:0000269PubMed:8737658, ECO:0000269PubMed:8807343, ECO:0000269PubMed:8829637, ECO:0000269PubMed:8889588, ECO:0000269PubMed:8956046, ECO:0000269Ref.11}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269PubMed:15947997}. Note=The gene represented in this entry may act as a disease modifier.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	9 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0006810	transport
GO:0007154	cell communication
GO:0007267	cell-cell signaling
GO:0007399	nervous system development
GO:0008219	cell death
GO:0016264	gap junction assembly
GO:0061024	membrane organization