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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; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: CACNA1F
Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1f

Human
homologs
CACNA1F, calcium channel, voltage-dependent, L type, alpha 1F subunit
Orthology source: HGNC, HomoloGene

IDs:
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:49205063-49233671 (-)  GRCh38.p2

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 in Mice Using Cacna1f (1)    Mutations Annotated to Human Diseases (4)   
Interactions
Cacna1f interacts with 42 markers (Mir18, Mir18b, Mir29a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 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 (28)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 24
RT-PCR 17
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cacna1f ; ZFIN cacna1fb    NEW 
Molecular
reagents
All nucleic(30) Genomic(5) cDNA(20) Primer pair(3) Other(2)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000017707 (Evidence)
Ensembl Gene Model ENSMUSG00000031142 (Evidence)
Entrez Gene 54652 (Evidence)
UniGene 289647
DFCI TC1586859, TC1612167, TC1644561
DoTS DT.101351772, DT.101725763, DT.101725764, DT.87057481, DT.91334325, DT.91392953
NIA Mouse Gene Index U019660
Consensus CDS Project CCDS40840.1
International Mouse Phenotyping Consortium Status Cacna1f
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(69) RefSeq(4) 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 IPR030157 Voltage-dependent calcium channel, L-type, alpha-1F subunit
InterPro IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent 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:218379 Lee A, et al., Characterization of Cav1.4 Complexes (alpha11.4, beta2, and alpha2delta4) in HEK293T Cells and in the Retina. J Biol Chem. 2015 Jan 16;290(3):1505-21
All references(47)
Disease annotation references (4)
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
08/25/2015
MGI 6.0
The Jackson Laboratory