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

Mammalian homology

human; rat; cattle; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Cacna1f ± 2 cM)

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

Human ortholog

CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit NCBI Gene ID 778
Human Synonyms: AIED, Cav1.4, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2
Human ChrX:49061523-49089833 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human CACNA1F (3)

Alleles and phenotypes

All alleles(6) : Targeted(5) Spontaneous(1)
 

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(2)   

Gene Ontology (GO) classifications

All GO classifications: (30 annotations)

Process	axonogenesis, calcium ion transmembrane transport, ...
Component	integral to membrane, membrane, ...
Function	calcium channel activity, ion channel activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (41)    Tissues (25)    Images (2)
Theiler Stages: 15, 20, 23, 24, 25, 28

Assay Type	Results
RNA in situ	24
RT-PCR	17

cDNA source data(21)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(31) Genomic(5) cDNA(21) 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 Knockout Project Status	Cacna1f

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017707	VEGA Gene Model | MGI Sequence Detail	28114	C57BL/6J
transcript	OTTMUST00000042905	VEGA | MGI Sequence Detail	6079	Not Applicable
polypeptide	OTTMUSP00000019288	VEGA | MGI Sequence Detail	1984	Not Applicable

All sequences(64) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(113 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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
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:176429 Omilusik K, et al., The ca(v)1.4 calcium channel is a critical regulator of T cell receptor signaling and naive T cell homeostasis. Immunity. 2011 Sep 23;35(3):349-60
All references(41)

Other accession IDs

MGI:3580350