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Cacna1f Gene Detail
Summary
  • Symbol
    Cacna1f
  • Name
    calcium channel, voltage-dependent, alpha 1F subunit
  • Synonyms
    Cav1.4, Sfc17
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859639
    NCBI Gene: 54652
  • Gene Overview
    MyGene.info: CACNA1F
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7607083-7635196 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.42 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    151 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859639
protein coding gene ChrX:7607070-7635196 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035514
protein coding gene ChrX:2218336-2248137 (+)
A/J MGP_AJ_G0035492
protein coding gene ChrX:2179817-2208891 (+)
AKR/J MGP_AKRJ_G0035425
protein coding gene ChrX:2281992-2310051 (+)
BALB/cJ MGP_BALBcJ_G0035488
protein coding gene ChrX:2199635-2227708 (+)
C3H/HeJ MGP_C3HHeJ_G0035196
protein coding gene ChrX:2254017-2282096 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036012
protein coding gene ChrX:2297224-2325339 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032887
protein coding gene ChrX:1748832-1776794 (+)
CAST/EiJ MGP_CASTEiJ_G0034496
protein coding gene ChrX:2154036-2182071 (+)
CBA/J MGP_CBAJ_G0035166
protein coding gene ChrX:2410468-2438432 (+)
DBA/2J MGP_DBA2J_G0035323
protein coding gene ChrX:2201628-2229713 (+)
FVB/NJ MGP_FVBNJ_G0035270
protein coding gene ChrX:2165548-2193653 (+)
LP/J MGP_LPJ_G0035400
protein coding gene ChrX:2221319-2249520 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035309
protein coding gene ChrX:2374826-2402895 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036030
protein coding gene ChrX:2203020-2231109 (+)
PWK/PhJ MGP_PWKPhJ_G0034198
protein coding gene ChrX:2133506-2162004 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034035
protein coding gene ChrX:2172380-2200514 (+)
WSB/EiJ MGP_WSBEiJ_G0034619
protein coding gene ChrX:2205177-2233794 (+)



Homology
more
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AIED, Cav1.4, Cav1.4alpha1, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2
  • Links
    NCBI Gene ID: 778
    neXtProt AC: NX_O60840
    UniProt: O60840

  • Chr Location
    Xp11.23; chrX:49205063-49233404 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cacna1f mouse models; 3 with human CACNA1F associations

Human Disease Mouse Models
      
IDs
View 11 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 4 alleles in 5 genetic backgrounds
    20 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 or hemizygous mutation of this gene results in impaired eye electrophysiology, abnormal retinal neuronal layer, bipolar cell, and horizontal cell morphology, and impaired retinal synapse morphology.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031142 Ensembl Gene Model | MGI Sequence Detail 28114 C57BL/6J ±  kb
    transcript ENSMUST00000115726 Ensembl | MGI Sequence Detail 6079 Not Applicable  
    polypeptide ENSMUSP00000111391 Ensembl | MGI Sequence Detail 1984 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
      IPR030157 Voltage-dependent calcium channel, L-type, alpha-1F 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 5
      cDNA 21
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3580350
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 5
      Diseases 4
      Gene Ontology 9
      Phenotypes 20
    • Earliest
      J:62168 Means GD, et al., A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. Genomics. 2000 May 1;65(3):213-23
    • Latest
      J:265366 Kerov V, et al., alpha2delta-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses. J Neurosci. 2018 Jul 4;38(27):6145-6160

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory