Tbio GJA1 Gap junction alpha-1 protein

Protein Summary

Description

Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity). 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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

Uniprot Accession IDs

• P17302
• B2R5U9
• Q6FHU1
• Q9Y5I8

Gene Name

• GJA1

Ensembl ID

• ENST00000282561
• ENSP00000282561
• ENSG00000152661
• ENST00000647564
• ENSP00000497565
• ENST00000649003
• ENSP00000497283
• ENST00000649132
• ENSP00000497788
• ENST00000650427
• ENSP00000497367

Symbol

• GJAL
• HSS
• CMDR
• CX43
• EKVP
• GJAL
• ODDD
• AVSD3
• EKVP3
• HLHS1
• PPKCA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
biological term	1
PubMedID	1
chemical	0.99
small molecule perturbation	0.93

Protein Classes

PANTHER Classes

Protein / Cell Junction Protein / Gap Junction / Gap Junction Alpha-1 Protein

DTO Classes

Protein / Cell-cell Junction / Gap Junction / Gap Junction Alpha-1 Protein

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 5921.52   (req: < 5)

Gene RIFs: 630   (req: <= 3)

Antibodies: 1119   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 5921.52   (req: >= 5)

Gene RIFs: 630   (req: > 3)

Antibodies: 1119   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0