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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
  • Alliance
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: HomoloGene, HGNC
  • Synonyms
    CACNL1A3, Cav1.1, CCHL1A3, HOKPP, HOKPP1, hypoPP, MHS5, TTPP1
  • Links
    NCBI Gene ID: 779
    neXtProt AC: NX_Q13698
    UniProt: Q13698

  • Chr Location
    1q32.1; chr1:201039509-201112566 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cacna1s mouse models; 2 with human CACNA1S associations

Human Disease Mouse Models
      
IDs
View 2 models
      
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
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  • Phenotype Summary
    84 phenotypes from 4 alleles in 6 genetic backgrounds
    1 images
    54 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    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
    • PDB
    • 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 domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
      IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 2
      cDNA 20
      Primer pair 7

      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 123
      Developmental Gene Expression 23
      Diseases 2
      Gene Ontology 31
      Phenotypes 54
    • 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:261962 Polster A, et al., Stac proteins associate with the critical domain for excitation-contraction coupling in the II-III loop of CaV1.1. J Gen Physiol. 2018 Apr 2;150(4):613-624

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory