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CACNA1F calcium voltage-gated channel subunit alpha1 F [ Homo sapiens (human) ]

Gene ID: 778, updated on 25-Apr-2020

Summary

Official Symbol
CACNA1Fprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Fprovided by HGNC
Primary source
HGNC:HGNC:1393
See related
Ensembl:ENSG00000102001 MIM:300110
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1
Summary
This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CACNA1F in Genome Data Viewer
Location:
Xp11.23
Exon count:
48
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (49205063..49233404, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49061523..49089833, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene prickle planar cell polarity protein 3 Neighboring gene proteolipid protein 2 Neighboring gene synaptophysin Neighboring gene SYP antisense RNA 1 Neighboring gene heat shock protein family B (small) member 1 pseudogene 2 Neighboring gene coiled-coil domain containing 22 Neighboring gene forkhead box P3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
voltage-dependent L-type calcium channel subunit alpha-1F
Names
calcium channel, voltage-dependent, L type, alpha 1F subunit
voltage-gated calcium channel subunit alpha Cav1.4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009095.2 RefSeqGene

    Range
    5027..33304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256789.3NP_001243718.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform 2

    See identical proteins and their annotated locations for NP_001243718.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC232271, AF201304, AJ224874
    Consensus CDS
    CCDS59167.1
    UniProtKB/Swiss-Prot
    O60840
    Related
    ENSP00000321618.5, ENST00000323022.9
    Conserved Domains (4) summary
    pfam00520
    Location:11961441
    Ion_trans; Ion transport protein
    pfam08763
    Location:15141585
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16091963
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14491512
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001256790.3NP_001243719.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform 3

    See identical proteins and their annotated locations for NP_001243719.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC232271, AF067227, AF201304
    Consensus CDS
    CCDS59166.1
    UniProtKB/Swiss-Prot
    O60840
    Related
    ENSP00000365427.1, ENST00000376251.5
    Conserved Domains (4) summary
    pfam00520
    Location:11421387
    Ion_trans; Ion transport protein
    pfam08763
    Location:14601531
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:15551909
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:13951458
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. NM_005183.4NP_005174.2  voltage-dependent L-type calcium channel subunit alpha-1F isoform 1

    See identical proteins and their annotated locations for NP_005174.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC232271, AF201304
    Consensus CDS
    CCDS35253.1
    UniProtKB/Swiss-Prot
    O60840
    Related
    ENSP00000365441.2, ENST00000376265.2
    Conserved Domains (4) summary
    pfam00520
    Location:12071452
    Ion_trans; Ion transport protein
    pfam08763
    Location:15251596
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16201974
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14601523
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    49205063..49233404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543983.2XP_011542285.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform X2

    Conserved Domains (4) summary
    pfam00520
    Location:11421380
    Ion_trans; Ion transport protein
    pfam08763
    Location:14531524
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:15481902
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:13881451
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. XM_017029836.1XP_016885325.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform X1

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