Seroatlas · Human Serome Atlas

CACNB1

Voltage-dependent L-type calcium channel subunit beta-1

Also known as: CACB1_HUMAN, CACNLB1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q02641
Gene
CACNB1
Ensembl
ENSG00000067191
Chromosome
17
Canonical length
598 aa
Protein class
FDA approved drug targets, Predicted intracellular proteins

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

598 residues, UniProt reviewed canonical sequence.

>Q02641|CACNB1
     1  MVQKTSMSRG PYPPSQEIPM EVFDPSPQGK YSKRKGRFKR SDGSTSSDTT SNSFVRQGSA
    61  ESYTSRPSDS DVSLEEDREA LRKEAERQAL AQLEKAKTKP VAFAVRTNVG YNPSPGDEVP
   121  VQGVAITFEP KDFLHIKEKY NNDWWIGRLV KEGCEVGFIP SPVKLDSLRL LQEQKLRQNR
   181  LGSSKSGDNS SSSLGDVVTG TRRPTPPASA KQKQKSTEHV PPYDVVPSMR PIILVGPSLK
   241  GYEVTDMMQK ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKHIII ERSNTRSSLA
   301  EVQSEIERIF ELARTLQLVA LDADTINHPA QLSKTSLAPI IVYIKITSPK VLQRLIKSRG
   361  KSQSKHLNVQ IAASEKLAQC PPEMFDIILD ENQLEDACEH LAEYLEAYWK ATHPPSSTPP
   421  NPLLNRTMAT AALAASPAPV SNLQGPYLAS GDQPLERATG EHASMHEYPG ELGQPPGLYP
   481  SSHPPGRAGT LRALSRQDTF DADTPGSRNS AYTELGDSCV DMETDPSEGP GLGDPAGGGT
   541  PPARQGSWED EEEDYEEELT DNRNRGRNKA RYCAEGGGPV LGRNKNELEG WGRGVYIR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACNB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.5
Highest tissue expression
314 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 314 nTPM
  • tongue: 206 nTPM
  • cerebral cortex: 43 nTPM
  • hippocampal formation: 25 nTPM
  • basal ganglia: 23 nTPM
  • amygdala: 20 nTPM

Single-cell type

  • thymic myoid cells: 135 nCPM
  • myonuclei: 96 nCPM
  • astrocytes: 31 nCPM
  • bergmann glia: 26 nCPM
  • alveolar cells type 2: 23 nCPM
  • platelets: 20 nCPM

Immune cell

  • plasmacytoid DC: 1 nTPM
  • MAIT T-cell: 0.9 nTPM
  • memory CD8 T-cell: 0.8 nTPM
  • gdT-cell: 0.6 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • NK-cell: 0.6 nTPM

Brain region

  • cerebral cortex: 90 nTPM
  • hippocampal formation: 72 nTPM
  • basal ganglia: 66 nTPM
  • white matter: 65 nTPM
  • pons: 51 nTPM
  • hypothalamus: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACNB1.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 88 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • Congenital muscular disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.38
gnomAD pLI
0.79
gnomAD missense Z
2.14
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CACNB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CACNB1 as an antibody target. Whether an autoantibody or antibody against CACNB1 could matter depends on whether native CACNB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACNB1 is annotated at the cell surface, where native CACNB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CACNB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CACNB1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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