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
  • Gene Overview
    MyGene.info: CACNA1S
Location & Maps
more
  • Sequence Map
    Chr1:136052750-136119535 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      66786 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 59.55 cM, cytoband F
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    CACNA1S, calcium voltage-gated channel subunit alpha1 S
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CACNA1S, calcium voltage-gated channel subunit alpha1 S
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CACNL1A3, Cav1.1, CCHL1A3, HOKPP, HOKPP1, hypoPP, MHS5, TTPP1
  • Links
    NCBI Gene ID: 779
    neXtProt AC: NX_Q13698

  • Chr Location
    1q32; chr1:201039507-201112566 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cacna1s mouse models; 3 with human CACNA1S associations

Human Disease Mouse Models
       Hypokalemic Periodic Paralysis, Type 1; HOKPP1   OMIM: 170400 View 2 models
       Malignant Hyperthermia, Susceptibility to, 5   OMIM: 601887
Thyrotoxic Periodic Paralysis, Susceptibility to, 1; TTPP1   OMIM: 188580
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
    74 phenotypes from 3 alleles in 5 genetic backgrounds
    1 images
    48 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.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    3 involving Cacna1s
  • Incidental Mutations
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
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033761 VEGA Gene Model | MGI Sequence Detail 66786 C57BL/6J ±  kb
transcript OTTMUST00000085066 VEGA | MGI Sequence Detail 6104 Not Applicable  
polypeptide OTTMUSP00000045913 VEGA | MGI Sequence Detail 1850 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    668 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000002116 voltage-dependent L-type calcium channel subunit alpha-1S
  • InterPro Domains
    IPR005821 Ion transport domain
    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, four helix bundle domain
    IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
Molecular
Reagents
less
  • All nucleic 24
    Genomic 1
    cDNA 19
    Primer pair 4

    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 104
    Developmental Gene Expression 19
    Diseases 2
    Gene Ontology 31
    Phenotypes 48
  • Earliest
    J:28893 Smith, Short jaw (sj). Mouse News Lett. 1961;25:12
  • Latest
    J:224077 Huang AH, et al., Musculoskeletal integration at the wrist underlies the modular development of limb tendons. Development. 2015 Jul 15;142(14):2431-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory