About   Help   FAQ
Cacna1i Gene Detail
Summary
  • Symbol
    Cacna1i
  • Name
    calcium channel, voltage-dependent, alpha 1I subunit
  • Feature Type
    protein coding gene
  • IDs
    MGI:2178051
    NCBI Gene: 239556
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:80171439-80282480 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 37.85 cM, cytoband E2
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2826 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2178051
 protein coding gene Chr15:80171439-80282493 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022099
 protein coding gene Chr15:80622737-80744598 (+)
A/J MGP_AJ_G0022060
 protein coding gene Chr15:77819629-77931789 (+)
AKR/J MGP_AKRJ_G0022035
 protein coding gene Chr15:79995259-80118586 (+)
BALB/cJ MGP_BALBcJ_G0022066
 protein coding gene Chr15:77827271-77939561 (+)
C3H/HeJ MGP_C3HHeJ_G0021837
 protein coding gene Chr15:79989533-80105959 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022509
 protein coding gene Chr15:83801784-83923729 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020039
 protein coding gene Chr15:74309536-74420569 (+)
CAST/EiJ MGP_CASTEiJ_G0021358
 protein coding gene Chr15:80707512-80833003 (+)
CBA/J MGP_CBAJ_G0021802
 protein coding gene Chr15:86442787-86573300 (+)
DBA/2J MGP_DBA2J_G0021931
 protein coding gene Chr15:77309856-77423535 (+)
FVB/NJ MGP_FVBNJ_G0021909
 protein coding gene Chr15:76334668-76454613 (+)
LP/J MGP_LPJ_G0021999
 protein coding gene Chr15:80796679-80923683 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021929
 protein coding gene Chr15:91457252-91576765 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022523
 protein coding gene Chr15:80030346-80147573 (+)
PWK/PhJ MGP_PWKPhJ_G0021100
 protein coding gene Chr15:77325946-77439972 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020937
 protein coding gene Chr15:79835282-79948512 (+)
WSB/EiJ MGP_WSBEiJ_G0021410
 protein coding gene Chr15:80439749-80561403 (+)



Homology
more
  • Human Ortholog
    CACNA1I, calcium voltage-gated channel subunit alpha1 I
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1I, calcium voltage-gated channel subunit alpha1 I
  • Synonyms
    ca(v)3.3, Cav3.3, NEDSIS
  • Links
    NCBI Gene ID: 8911
    neXtProt AC: NX_Q9P0X4
    UniProt: Q9P0X4

  • Chr Location
    22q13.1; chr22:39570753-39689735 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CACNA1I associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 3 alleles in 2 genetic backgrounds
    37 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.
Mice homozygous for a null allele or a missense mutation R1305H exhibit a selective reduction in T-type calcium conductance and altered rebound bursting in thalamic reticular nucleus neurons, and deficits in sleep spindle occurrence and morphology during NREM sleep.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    4
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
    744
  • Tissues
    17
  • cDNA Data
    13
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022416 Ensembl Gene Model | MGI Sequence Detail 111042 C57BL/6J ±  kb
    transcript ENSMUST00000160424 Ensembl | MGI Sequence Detail 9781 Not Applicable  
    polypeptide ENSMUSP00000125063 Ensembl | MGI Sequence Detail 2199 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR005445 Voltage-dependent calcium channel, T-type, alpha-1 subunit
      IPR027359 Voltage-dependent channel domain superfamily
      IPR043203 Voltage-gated cation channel calcium and sodium
    • GlyGen
      E9Q7P2 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 13
      Primer pair 4

      Microarray probesets 1
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 4
      Phenotypes 37
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory