Entity Details

Primary name CAC1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ00975
EntryNameCAC1B_HUMAN
FullNameVoltage-dependent N-type calcium channel subunit alpha-1B
TaxID9606
Evidenceevidence at protein level
Length2339
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesCACNA1B

GO terms

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GOName
GO:0001540 amyloid-beta binding
GO:0005245 voltage-gated calcium channel activity
GO:0005509 calcium ion binding
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0006816 calcium ion transport
GO:0007268 chemical synaptic transmission
GO:0008022 protein C-terminus binding
GO:0008331 high voltage-gated calcium channel activity
GO:0034765 regulation of ion transmembrane transport
GO:0045202 synapse
GO:0050804 modulation of chemical synaptic transmission
GO:0051899 membrane depolarization
GO:0070509 calcium ion import
GO:1904645 response to amyloid-beta

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR002077 Voltage-dependent calcium channel, alpha-1 subunitFamilyFamily
IPR005447 Voltage-dependent calcium channel, N-type, alpha-1 subunitFamilyFamily
IPR005821 Ion transport domainDomainDomain
IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domainDomainDomain
IPR027359 Voltage-dependent channel domain superfamilyFamilyHomologous superfamily
IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domainDomainDomain
IPR043203 Voltage-gated cation channel calcium and sodiumFamilyFamily

Diseases

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Disease IDSourceNameDescription
618497 OMIMNeurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements (NEDNEH)An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00153 ErgocalciferolDrugbanksmall molecule
DB00228 EnfluraneDrugbanksmall molecule
DB00381 AmlodipineDrugbanksmall molecule
DB00421 SpironolactoneDrugbanksmall molecule
DB00661 VerapamilDrugbanksmall molecule
DB00996 GabapentinDrugbanksmall molecule
DB01202 LevetiracetamDrugbanksmall molecule
DB05885 SeletracetamDrugbanksmall molecule
DB05950 Contulakin-GDrugbanksmall molecule
DB06283 ZiconotideDrugbanksmall molecule
DB08838 AgmatineDrugbanksmall molecule
DB09231 BenidipineDrugbanksmall molecule
DB09232 CilnidipineDrugbanksmall molecule
DB11148 ButambenDrugbanksmall molecule
DB13746 BioallethrinDrugbanksmall molecule