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

Gene ID: 778, updated on 2-Sep-2018

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; 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]
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 current GRCh38.p12 (GCF_000001405.38) 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
    Aldosterone synthesis and secretion, organism-specific biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
    Aldosterone synthesis and secretion, conserved biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • 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)
    GnRH signaling pathway, conserved 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...
  • 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)
    Hypertrophic cardiomyopathy (HCM), conserved 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...
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • 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)
    MAPK signaling pathway, conserved 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...
  • 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)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
    Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
  • Renin secretion, organism-specific biosystem (from KEGG)
    Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Renin secretion, conserved biosystem (from KEGG)
    Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Serotonergic synapse, organism-specific biosystem (from KEGG)
    Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

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 
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
    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
    ENSP00000321618.5, OTTHUMP00000024299, ENST00000323022.9, OTTHUMT00000058912
    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_001256790.2NP_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
    ENSP00000365427.1, OTTHUMP00000032032, ENST00000376251.5, OTTHUMT00000081205
    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_005183.3NP_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
    ENSP00000365441.2, OTTHUMP00000216983, ENST00000376265.2, OTTHUMT00000358157
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 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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