Human Gene CACNB1 (ENST00000344140.6) from GENCODE V44
Description: Homo sapiens calcium voltage-gated channel auxiliary subunit beta 1 (CACNB1), transcript variant 2, mRNA. (from RefSeq NM_199247) RefSeq Summary (NM_199247): The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000344140.6 Gencode Gene: ENSG00000067191.17 Transcript (Including UTRs) Position: hg38 chr17:39,177,136-39,197,669 Size: 20,534 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr17:39,177,245-39,197,495 Size: 20,251 Coding Exon Count: 13
ID:CACB1_HUMAN DESCRIPTION: RecName: Full=Voltage-dependent L-type calcium channel subunit beta-1; Short=CAB1; AltName: Full=Calcium channel voltage-dependent subunit beta 1; FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. SUBUNIT: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with JSRP1. Interacts with RYR1 (By similarity). SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle. SIMILARITY: Belongs to the calcium channel beta subunit family. SIMILARITY: Contains 1 SH3 domain. SEQUENCE CAUTION: Sequence=CAA79825.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00625 - Guanylate kinase PF12052 - Voltage gated calcium channel subunit beta domain 4Aa N terminal
ModBase Predicted Comparative 3D Structure on Q02641
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005244 voltage-gated ion channel activity GO:0005245 voltage-gated calcium channel activity GO:0005262 calcium channel activity GO:0005515 protein binding GO:0008331 high voltage-gated calcium channel activity
Biological Process: GO:0006811 ion transport GO:0006816 calcium ion transport GO:0007268 chemical synaptic transmission GO:0007528 neuromuscular junction development GO:0034765 regulation of ion transmembrane transport GO:0070588 calcium ion transmembrane transport GO:1901385 regulation of voltage-gated calcium channel activity GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1904646 cellular response to beta-amyloid
US Server
