About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    39 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:85065268-85366875 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 40.95 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7861 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    3
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109482
 protein coding gene Chr8:85065257-85366880 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1A, calcium voltage-gated channel subunit alpha1 A
  • Synonyms
    APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
  • Links
    NCBI Gene ID: 773
    neXtProt AC: NX_O00555
    UniProt: O00555

  • Chr Location
    19p13.13; chr19:13206442-13624489 (-)  GRCh38
Human Diseases
more
  • Diseases
    7 with Cacna1a mouse models; 6 with human CACNA1A associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 3 models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 5 models
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    130 phenotypes from 31 alleles in 45 genetic backgrounds
    15 phenotypes from multigenic genotypes
    2 images
    311 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.
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
less
  • All GO Annotations
    135
  • GO References
    64
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
    848
  • Tissues
    36
  • cDNA Data
    31
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034656 Ensembl Gene Model | MGI Sequence Detail 301608 C57BL/6J ±  kb
    transcript ENSMUST00000238701 Ensembl | MGI Sequence Detail 8370 Not Applicable  
    polypeptide ENSMUSP00000158803 Ensembl | MGI Sequence Detail 2457 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • Protein Ontology
      PR:000002118 voltage-dependent P/Q-type calcium channel subunit alpha-1A
      (term hierarchy)
    • 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
      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
    • GlyGen
      P97445 6 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 4
      cDNA 32
      Primer pair 6
      Other 2

      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 403
      Developmental Gene Expression 21
      Diseases 13
      Gene Ontology 64
      Phenotypes 311
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:353043 Chin M, et al., The intracellular C-terminus confers compartment-specific targeting of voltage-gated calcium channels. Cell Rep. 2024 Jul 23;43(7):114428
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory