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

    Gene ID: 778, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:1393
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CACNA1F in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49205063..49233340, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48616922..48645225, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49061523..49089802, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49032849-49033350 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 11 Neighboring gene prickle planar cell polarity protein 3 Neighboring gene proteolipid protein 2 Neighboring gene CRISPRi-FlowFISH-validated GATA1 and PLP2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29635 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 13 Neighboring gene synaptophysin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20843 Neighboring gene SYP antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:49065732-49066931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:49086994-49087652 Neighboring gene heat shock protein family B (small) member 1 pseudogene 2 Neighboring gene coiled-coil domain containing 22 Neighboring gene CRISPRi-FlowFISH-validated GATA1 regulatory element 2 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables high voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
     
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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
      ENSP00000321618.6, ENST00000323022.10
      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
      A6NI29, F5CIQ9, O43901, O60840, O95226, Q9UHB1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49205063..49233340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543983.3XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48616922..48645225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327857.1XP_054183832.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform X2

    2. XM_054327856.1XP_054183831.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform X1