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Details on Person UniProt:Q00975 CACNA1B
| Class:Id | ReferenceGeneProduct:51542 |
|---|---|
| _chainChangeLog | chain:1-2339 added on Fri February 6 2015 |
| _displayName | UniProt:Q00975 CACNA1B |
| _timestamp | 2025-02-21 18:34:31 |
| chain | chain:1-2339 |
| checksum | 17A45C6D1E76B39D |
| comment | FUNCTION 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. This alpha-1B subunit gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group. They are involved in pain signaling (PubMed:25296916). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. Mediates Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals (By similarity).FUNCTION 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. This alpha-1B subunit gives rise to N-type calcium currents.CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)ACTIVITY REGULATION Is specifically blocked by omega-conotoxin GVIA (By similarity). Is specifically blocked by omega-conotoxin MVIIA (ziconotide) (PubMed:34234349). Is insensitive to dihydropyridines (DHP).ACTIVITY REGULATION Is specifically blocked by omega-conotoxin MVIIA (ziconotide). Is insensitive to dihydropyridines (DHP).SUBUNIT Multisubunit complex consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with RIMS1. Interacts with FMR1 (via C-terminus); this interaction induces a decrease in the number of presynaptic functional CACNA1B channels at the cell surface.INTERACTION Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. Expressed in the cerebral white matter, cortex, hippocampus, basal ganglia, and cerebellum (PubMed:30982612).DOMAIN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.PTM Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily. |
| description | recommendedName: Voltage-dependent N-type calcium channel subunit alpha-1B alternativeName: Brain calcium channel III shortName: BIII alternativeName: Calcium channel, L type, alpha-1 polypeptide isoform 5 alternativeName: Voltage-gated calcium channel subunit alpha Cav2.2 |
| geneName | CACNA1B CACH5 CACNL1A5 |
| identifier | Q00975 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing ATP-binding Calcium Calcium channel Calcium transport Disease variant Disulfide bond Epilepsy Glycoprotein Intellectual disability Ion channel Ion transport Membrane Metal-binding Methylation Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Repeat Transmembrane Transmembrane helix Transport Voltage-gated channel |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | CACNA1B |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991153] ENSEMBL:ENSG00000148408 CACNA1B [Homo sapiens] |
| secondaryIdentifier | CAC1B_HUMAN B1AQK5 |
| sequenceLength | 2339 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:145043] UniProt:Q00975-2 CACNA1B [Homo sapiens] [ReferenceIsoform:405009] UniProt:Q00975-1 CACNA1B [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:210409] CACNA1B [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q00975 CACNA1B (51542)
