Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000108

Automatic assignment of GO terms using logical inference, based on on inter-ontology links

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:11438518

Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin.

PMID:1321501

Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel.

PMID:15728831

A protein phosphatase 2calpha-Ca2+ channel complex for dephosphorylation of neuronal Ca2+ channels phosphorylated by protein kinase C.

PMID:20195357

A comprehensive resource of interacting protein regions for refining human transcription factor networks.

PMID:23376566

Synthetic Aβ oligomers (Aβ(1-42) globulomer) modulate presynaptic calcium currents: prevention of Aβ-induced synaptic deficits by calcium channel blockers.

PMID:25296916

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

The paper proposes CACNA1B R1389H as the likely cause of myoclonus-dystonia in the reported pedigree.

PMID:34234349

Structure of human Ca(v)2.2 channel blocked by the painkiller ziconotide.

PMID:9030575

Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis.

Reactome:R-HSA-210420

Ca2+ influx through voltage gated Ca2+ channels

file:human/CACNA1B/CACNA1B-uniprot.txt

UniProtKB Q00975 CAC1B_HUMAN source record

PMID:26157024

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

The cohort comparison detected R1389H in one of 520 myoclonus-dystonia cases and one of 489 healthy controls, with no carrier among 146 familial probands; the study did not support a causal association for this variant.

PMID:30982612

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Six children from three unrelated families had biallelic CACNA1B variants and a progressive disorder combining developmental and epileptic encephalopathy with severe non-epileptic hyperkinetic movements. The truncating or splice-site variants were predicted to impair channel function; reduced calcium influx and synaptic transmission were proposed mechanisms.

"bi-allelic CACNA1B variants in six children from three families presenting with DEE associated with a severe hyperkinetic movement disorder"