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Cacna1a Gene Detail
Summary
  • Symbol
    Cacna1a
  • Name
    calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • Synonyms
    alpha1A, Cacnl1a4, Ccha1a, nmf352, SCA6, smrl
  • Feature Type
    protein coding gene
  • IDs
    MGI:109482
    NCBI Gene: 12286
  • Gene Overview
    MyGene.info: CACNA1A
  • Alliance
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:84388440-84640246 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 40.95 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2951 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109482
protein coding gene Chr8:84338630-84640251 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033863
protein coding gene Chr8:85281661-85547674 (+)
A/J MGP_AJ_G0033846
protein coding gene Chr8:81931073-82184674 (+)
AKR/J MGP_AKRJ_G0033772
protein coding gene Chr8:84358178-84616703 (+)
BALB/cJ MGP_BALBcJ_G0033839
protein coding gene Chr8:82046887-82303612 (+)
C3H/HeJ MGP_C3HHeJ_G0033549
protein coding gene Chr8:84969167-85229666 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034359
protein coding gene Chr8:88553426-88830941 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031301
protein coding gene Chr8:75730048-75977194 (+)
CAST/EiJ MGP_CASTEiJ_G0032879
protein coding gene Chr8:84387942-84646651 (+)
CBA/J MGP_CBAJ_G0033525
protein coding gene Chr8:91631340-91881862 (+)
DBA/2J MGP_DBA2J_G0033679
protein coding gene Chr8:81570922-81822801 (+)
FVB/NJ MGP_FVBNJ_G0033626
protein coding gene Chr8:80505968-80760492 (+)
LP/J MGP_LPJ_G0033770
protein coding gene Chr8:85395809-85662689 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033668
protein coding gene Chr8:94159005-94425247 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034376
protein coding gene Chr8:84328096-84597078 (+)
PWK/PhJ MGP_PWKPhJ_G0032583
protein coding gene Chr8:80799172-81055826 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032419
protein coding gene Chr8:83152054-83414908 (+)
WSB/EiJ MGP_WSBEiJ_G0032992
protein coding gene Chr8:84752262-85024401 (+)



Homology
more
  • Human Ortholog
    CACNA1A, calcium voltage-gated channel subunit alpha1 A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1A, calcium voltage-gated channel subunit alpha1 A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    APCA, BI, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
  • Links
    NCBI Gene ID: 773
    neXtProt AC: NX_O00555
    UniProt: O00555

  • Chr Location
    19p13.13; chr19:13206442-13506460 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    7 with Cacna1a mouse models; 3 with human CACNA1A associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 5 models
IDs
View 2 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 2 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    122 phenotypes from 29 alleles in 42 genetic backgrounds
    8 phenotypes from multigenic genotypes
    2 images
    256 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.
Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034656 Ensembl Gene Model | MGI Sequence Detail 251807 C57BL/6J ±  kb
    transcript ENSMUST00000121390 Ensembl | MGI Sequence Detail 7926 Not Applicable  
    polypeptide ENSMUSP00000112436 Ensembl | MGI Sequence Detail 2368 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      IPR005448 Voltage-dependent calcium channel, P/Q-type, alpha-1 A
      IPR027359 Voltage-dependent channel domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 4
      cDNA 32
      Primer pair 5
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11727, MGD-MRK-15048, MGD-MRK-35757, MGD-MRK-39481, MGI:1890949, MGI:3588957, MGI:5008654
    References
    more
    • Summaries
      All 338
      Developmental Gene Expression 14
      Diseases 11
      Gene Ontology 66
      Phenotypes 256
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54:113-145
    • Latest
      J:266142 Grosjean F, et al., Pharmacologic control of oxidative stress and inflammation determines whether diabetic glomerulosclerosis progresses or decreases: A pilot study in sclerosis-prone mice. PLoS One. 2018;13(9):e0204366

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory