Tchem CACNA1A Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Protein Summary

Description

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP). Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]

Uniprot Accession IDs

• O00555
• J3KP41
• P78510
• P78511
• Q16290
• Q92690
• Q99790
• Q99791
• Q99792
• Q99793
• Q9NS88
• Q9UDC4

Gene Name

• CACNA1A

Ensembl ID

• ENST00000360228
• ENSP00000353362
• ENSG00000141837
• ENST00000637276
• ENSP00000489777
• ENST00000637432
• ENSP00000490617
• ENST00000638009
• ENSP00000489913

Symbol

• CACH4
• CACN3
• CACNL1A4
• BI
• EA2
• FHM
• MHP
• APCA
• HPCA
• MHP1
• SCA6
• CAV2.1
• EIEE42
• CACNL1A4

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
biological term	0.93
molecular function	0.93
cellular component	0.84
phenotype	0.78

Protein Classes

DTO Classes

Protein / Ion Channel / Calcium Channel Alpha-1 Subunit Family / Cacna1a Subfamily / Voltage-dependent P/q-type Calcium Channel Subunit Alpha-1a

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: 1835.2   (req: < 5)

Gene RIFs: 205   (req: <= 3)

Antibodies: 76   (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: 1835.2   (req: >= 5)

Gene RIFs: 205   (req: > 3)

Antibodies: 76   (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: 1

Tclin

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

Active Drug: 1