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Cacna1f
Gene Detail
 Symbol
Name
ID
Cacna1f
calcium channel, voltage-dependent, alpha 1F subunit
MGI:1859639
Synonyms Cav1.4, Sfc17
Feature Type protein coding gene
Genetic Map
Chromosome X
3.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
ChrX:7607083-7635196 bp, + strand
From VEGA annotation of GRCm38

  28114 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:74542  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 2 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1f

Human
homologs
Human Homolog CACNA1F, calcium channel, voltage-dependent, L type, alpha 1F subunit
NCBI Gene ID 778
neXtProt AC  NX_O60840
Human Synonyms  AIED, Cav1.4, Cav1.4alpha1, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2
Human Chr (Location)  Xp11.23; chrX:49205063-49233371 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human CACNA1F
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Spontaneous(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Cacna1f (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Cacna1f interacts with 42 markers (Mir18, Mir18b, Mir29a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process axonogenesis, calcium ion import, ...
Component cell, integral component of membrane, ...
Function calcium channel activity, high voltage-gated calcium channel activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (41)    Tissues (25)    Images (2)
Theiler Stages: 15, 20, 23, 24, 25, 28
Assay TypeResults
RNA in situ 24
RT-PCR 17
cDNA source data(20)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) Genomic(5) cDNA(20) Primer pair(3) Other(2)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000017707 (Evidence)
Ensembl Gene ModelENSMUSG00000031142 (Evidence)
Entrez Gene54652 (Evidence)
UniGene289647
DFCITC1586859, TC1612167, TC1644561
DoTSDT.101351772, DT.101725763, DT.101725764, DT.87057481, DT.91334325, DT.91392953
NIA Mouse Gene IndexU019660
Consensus CDS ProjectCCDS40840.1
International Mouse Knockout Project StatusCacna1f
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017707 VEGA Gene Model | MGI Sequence Detail 28114 C57BL/6J ±  kb
transcript OTTMUST00000042905 VEGA | MGI Sequence Detail 6079 Not Applicable 
polypeptide OTTMUSP00000019288 VEGA | MGI Sequence Detail 1984 Not Applicable 

For the selected sequences
All sequences(71) RefSeq(6) UniProt(8)
Polymorphisms SNPs within 2kb(150 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
InterPro IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
InterPro IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000002115 voltage-dependent L-type calcium channel subunit alpha-1F
References (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:206966 Etemad S, et al., Differential neuronal targeting of a new and two known calcium channel beta4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014 Jan 22;34(4):1446-61
All references(45)
Disease annotation references (3)
Other
accession IDs
MGI:3580350

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
08/12/2014
MGI 5.19
The Jackson Laboratory