About   Help   FAQ
Cacna1s Gene Detail
Summary
  • Symbol
    Cacna1s
  • Name
    calcium channel, voltage-dependent, L type, alpha 1S subunit
  • Synonyms
    Cav1.1, Cchl1a3, DHPR alpha1s, fmd, mdg, muscle dysgenesis, sj
  • Feature Type
    protein coding gene
  • IDs
    MGI:88294
    NCBI Gene: 12292
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:135980549-136047268 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 59.55 cM, cytoband F
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2311 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88294
 protein coding gene Chr1:135980488-136047560 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016535
 protein coding gene Chr1:139849577-139921367 (+)
A/J MGP_AJ_G0016518
 protein coding gene Chr1:134559644-134626585 (+)
AKR/J MGP_AKRJ_G0016483
 protein coding gene Chr1:138564184-138631043 (+)
BALB/cJ MGP_BALBcJ_G0016478
 protein coding gene Chr1:134889106-134956301 (+)
C3H/HeJ MGP_C3HHeJ_G0016304
 protein coding gene Chr1:138655151-138725182 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016939
 protein coding gene Chr1:144878624-144948947 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014650
 protein coding gene Chr1:127662443-127729119 (+)
CAST/EiJ MGP_CASTEiJ_G0015884
 protein coding gene Chr1:137747863-137819541 (+)
CBA/J MGP_CBAJ_G0016277
 protein coding gene Chr1:149901504-149974071 (+)
DBA/2J MGP_DBA2J_G0016383
 protein coding gene Chr1:133554441-133621586 (+)
FVB/NJ MGP_FVBNJ_G0016382
 protein coding gene Chr1:132200790-132267936 (+)
LP/J MGP_LPJ_G0016454
 protein coding gene Chr1:141079746-141149527 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016407
 protein coding gene Chr1:155539901-155610009 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016975
 protein coding gene Chr1:138327744-138395675 (+)
PWK/PhJ MGP_PWKPhJ_G0015670
 protein coding gene Chr1:132596922-132665972 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015457
 protein coding gene Chr1:137311292-137382961 (+)
WSB/EiJ MGP_WSBEiJ_G0015947
 protein coding gene Chr1:138370356-138439789 (+)



Homology
more
  • Human Ortholog
    CACNA1S, calcium voltage-gated channel subunit alpha1 S
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1S, calcium voltage-gated channel subunit alpha1 S
  • Synonyms
    CACNL1A3, Cav1.1, CCHL1A3, CMYO18, CMYP18, DHPRM, HOKPP, HOKPP1, hypoPP, MHS5, TTPP1
  • Links
    NCBI Gene ID: 779
    neXtProt AC: NX_Q13698
    UniProt: Q13698

  • Chr Location
    1q32.1; chr1:201039512-201112451 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cacna1s mouse models; 3 with human CACNA1S associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    84 phenotypes from 4 alleles in 6 genetic backgrounds
    1 images
    75 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 mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    37
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
    871
  • Tissues
    80
  • cDNA Data
    17
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12292 NCBI Gene Model | MGI Sequence Detail 66720 C57BL/6J ±  kb
    transcript NM_001081023 RefSeq | MGI Sequence Detail 6049 ZRU/MplStud  
    polypeptide Q02789 UniProt | EBI | MGI Sequence Detail 1852 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000002116 voltage-dependent L-type calcium channel subunit alpha-1S
      (term hierarchy)
    • PDB
      4ZW2
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR050599 Voltage-dependent calcium channel alpha-1 subunit
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      IPR005450 Voltage-dependent calcium channel, L-type, alpha-1S subunit
      IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
      IPR027359 Voltage-dependent channel domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
      IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
    • GlyGen
      Q02789 3 sites
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 2
      cDNA 20
      Primer pair 11

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12163, MGD-MRK-14424, MGD-MRK-1800, MGD-MRK-9842, MGI:2138593
    References
    more
    • Summaries
      All 157
      Developmental Gene Expression 29
      Diseases 2
      Gene Ontology 37
      Phenotypes 75
    • Earliest
      J:4466 Pai AC, Developmental genetics of a lethal mutation, muscular dysgenesis (mdg), in the mouse. I. Genetic analysis and gross morphology. Dev Biol. 1965 Feb;11:82-92
    • Latest
      J:349924 Kaplan MM, et al., Spatial transcriptomics in embryonic mouse diaphragm muscle reveals regional gradients and subdomains of developmental gene expression. iScience. 2024 Jun 21;27(6):110018
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory