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

    Gene ID: 778, updated on 7-Feb-2016
    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; HPRD:02119; MIM:300110; Vega:OTTHUMG00000022703
    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]
    Orthologs
    See CACNA1F in Epigenomics, MapViewer
    Location:
    Xp11.23
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (49205063..49233671, 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 (colonic epithelium-enriched) 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
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    • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
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    • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
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    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
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    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
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    • Insulin secretion, organism-specific biosystem (from KEGG)
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    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
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    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
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    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
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    • Phase 1 - inactivation of fast Na+ channels, organism-specific biosystem (from REACTOME)
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    • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
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    • Renin secretion, organism-specific biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac conduction TAS
    Traceable Author Statement
    more info
     
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    retina development in camera-type eye 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 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      4996..33304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256789.2NP_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, OTTHUMP00000024299, ENST00000323022, OTTHUMT00000058912
      Conserved Domains (2) summary
      pfam08763
      Location:15651596
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12131429
      Ion_trans; Ion transport protein
    2. NM_001256790.2NP_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, OTTHUMP00000032032, ENST00000376251, OTTHUMT00000081205
      Conserved Domains (2) summary
      pfam08763
      Location:15111542
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:11591375
      Ion_trans; Ion transport protein
    3. NM_005183.3NP_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, OTTHUMP00000216983, ENST00000376265, OTTHUMT00000358157
      Conserved Domains (2) summary
      pfam08763
      Location:15761607
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12241440
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      49205063..49233671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543983.1XP_011542285.1  

      Conserved Domains (2) summary
      pfam08763
      Location:15041535
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:11591368
      Ion_trans; Ion transport protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      49093823..49122134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)