Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
782
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNB1
Synonyms (NCBI Gene) Gene synonyms aliases
CAB1, CACNLB1, CCHLB1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021151 hsa-miR-186-5p Sequencing 20371350
MIRT716946 hsa-miR-6769a-3p HITS-CLIP 19536157
MIRT716945 hsa-miR-6887-3p HITS-CLIP 19536157
MIRT716944 hsa-miR-6795-3p HITS-CLIP 19536157
MIRT716943 hsa-miR-1470 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IGI 21883149
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane TAS
GO:0005891 Component Voltage-gated calcium channel complex IBA 21873635
GO:0007268 Process Chemical synaptic transmission IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
114207 1401 ENSG00000067191
Protein
UniProt ID Q02641
Protein name Voltage-dependent L-type calcium channel subunit beta-1 (CAB1) (Calcium channel voltage-dependent subunit beta 1)
Protein function Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:15615847, PubMed:8107964). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type cal
PDB 7VFS , 7VFU , 7VFV , 7VFW , 7XLQ , 7YG5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12052 VGCC_beta4Aa_N 58 99 Voltage gated calcium channel subunit beta domain 4Aa N terminal Domain
PF00625 Guanylate_kin 228 408 Guanylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart ventricle (at protein level) (PubMed:15615847). Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle. {ECO:0000269|Pu
Sequence
MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGSTSSDTTSNSFVRQGSA
ESYTSRPSDSDVSLEEDREALRKEAERQALAQLEKAKTK
PVAFAVRTNVGYNPSPGDEVP
VQGVAITFEPKDFLHIKEKYNNDWWIGRLVKEGCEVGFIPSPVKLDSLRLLQEQKLRQNR
LGSSKSGDNSSSSLGDVVTGTRRPTPPASAKQKQKSTEHVPPYDVVPSMRPIILVGPSLK
GYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKHIIIERSNTRSSLA
EVQSEIERIFELARTLQLVALDADTINHPAQLSKTSLAPIIVYIKITSPKVLQRLIKSRG
KSQSKHLNVQIAASEKLAQCPPEMFDIILDENQLEDACEHLAEYLEAY
WKATHPPSSTPP
NPLLNRTMATAALAASPAPVSNLQGPYLASGDQPLERATGEHASMHEYPGELGQPPGLYP
SSHPPGRAGTLRALSRQDTFDADTPGSRNSAYTELGDSCVDMETDPSEGPGLGDPAGGGT
PPARQGSWEDEEEDYEEELTDNRNRGRNKARYCAEGGGPVLGRNKNELEGWGRGVYIR
Sequence length 598
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Presynaptic depolarization and calcium channel opening
Phase 0 - rapid depolarisation
Phase 2 - plateau phase
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Associations from Text Mining
Disease Name Relationship Type References
Autistic Disorder Associate 32717741