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Cacnb1 Gene Detail
Summary
  • Symbol
    Cacnb1
  • Name
    calcium channel, voltage-dependent, beta 1 subunit
  • Synonyms
    Cchb1, Cchlb1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102522
    NCBI Gene: 12295
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:97892339-97913860 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 61.50 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    531 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102522
 protein coding gene Chr11:97892334-97913860 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019047
 protein coding gene Chr11:100490911-100514694 (-)
A/J MGP_AJ_G0019015
 protein coding gene Chr11:96334183-96355725 (-)
AKR/J MGP_AKRJ_G0018985
 protein coding gene Chr11:99320947-99344230 (-)
BALB/cJ MGP_BALBcJ_G0018988
 protein coding gene Chr11:96832683-96854566 (-)
C3H/HeJ MGP_C3HHeJ_G0018802
 protein coding gene Chr11:99448340-99472345 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019441
 protein coding gene Chr11:103585377-103608462 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017072
 protein coding gene Chr11:93786599-93808510 (-)
CAST/EiJ MGP_CASTEiJ_G0018356
 protein coding gene Chr11:100317309-100338855 (-)
CBA/J MGP_CBAJ_G0018773
 protein coding gene Chr11:107876909-107898439 (-)
DBA/2J MGP_DBA2J_G0018881
 protein coding gene Chr11:95884451-95906104 (-)
FVB/NJ MGP_FVBNJ_G0018870
 protein coding gene Chr11:95385536-95408733 (-)
LP/J MGP_LPJ_G0018951
 protein coding gene Chr11:100984055-101005887 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018897
 protein coding gene Chr11:107696936-107718749 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019481
 protein coding gene Chr11:99640061-99664463 (-)
PWK/PhJ MGP_PWKPhJ_G0018128
 protein coding gene Chr11:96875050-96896832 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017918
 protein coding gene Chr11:99356655-99379713 (-)
WSB/EiJ MGP_WSBEiJ_G0018406
 protein coding gene Chr11:99544498-99571189 (-)



Homology
more
  • Human Ortholog
    CACNB1, calcium voltage-gated channel auxiliary subunit beta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNB1, calcium voltage-gated channel auxiliary subunit beta 1
  • Synonyms
    CAB1, CACNLB1, CCHLB1
  • Links
    NCBI Gene ID: 782
    neXtProt AC: NX_Q02641
    UniProt: Q02641

  • Chr Location
    17q12; chr17:39173453-39197702 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 1 genetic background
    1 images
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in perinatal lethality. Mutant animals have reduced muscle mass, thin limbs, a curved spine, and flexed necks and extremeties.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    883
  • Tissues
    52
  • cDNA Data
    9
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12295 NCBI Gene Model | MGI Sequence Detail 21522 C57BL/6J ±  kb
    transcript NM_001430870 RefSeq | MGI Sequence Detail 3650 C57BL/6  
    polypeptide Q8R3Z5 UniProt | EBI | MGI Sequence Detail 597 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000004946 voltage-dependent L-type calcium channel subunit beta-1
      (term hierarchy)
    • PDB
      4ZW2, 8DAM
    • InterPro Domains
      IPR008145 Guanylate kinase/L-type calcium channel beta subunit
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR001452 SH3 domain
      IPR036028 SH3-like domain superfamily
      IPR005443 Voltage-dependent calcium channel, L-type, beta-1 subunit
      IPR000584 Voltage-dependent calcium channel, L-type, beta subunit
      IPR046937 Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain
    • GlyGen
      Q8R3Z5 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 11
      Primer pair 5

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1802, MGD-MRK-19366
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 14
      Gene Ontology 13
      Phenotypes 17
    • Earliest
      J:28890 Ruth P, et al., Primary structure of the beta subunit of the DHP-sensitive calcium channel from skeletal muscle. Science. 1989 Sep 8;245(4922):1115-8
    • Latest
      J:335878 Montanes-Agudo P, et al., The RNA-binding protein QKI governs a muscle-specific alternative splicing program that shapes the contractile function of cardiomyocytes. Cardiovasc Res. 2023 May 22;119(5):1161-1174
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory