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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7473342-7501435 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.42 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    150 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:7473322-7501435 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1F, calcium voltage-gated channel subunit alpha1 F
  • 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:49205063-49233371 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Cacna1f mouse models; 4 with human CACNA1F associations

Human Disease Mouse Models
      
IDs
View 12 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 6 alleles in 7 genetic backgrounds
    32 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.
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
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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 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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54652 NCBI Gene Model | MGI Sequence Detail 28094 C57BL/6J ±  kb
    transcript NM_019582 RefSeq | MGI Sequence Detail 6075 ZRU/MplStud  
    polypeptide Q9JIS7 UniProt | EBI | MGI Sequence Detail 1985 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000002115 voltage-dependent L-type calcium channel subunit alpha-1F
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      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 68
      Developmental Gene Expression 6
      Diseases 5
      Gene Ontology 8
      Phenotypes 32
    • 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:324618 Erdogmus S, et al., Cavbeta1 regulates T cell expansion and apoptosis independently of voltage-gated Ca(2+) channel function. Nat Commun. 2022 Apr 19;13(1):2033

    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)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory