CACNA1F - calcium voltage-gated channel subunit alpha1 F Gene

Also Known as JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 778

About CACNA1F

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,205,063-49,233,340 (from NCBI)

This gene has 6 transcripts (splice variants), 181 orthologues, 26 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

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]

CACNA1F Products (3)

mRNA	Protein	Name
NM_001256789.3	NP_001243718.1	voltage-dependent L-type calcium channel subunit alpha-1F isoform 2
NM_001256790.3	NP_001243719.1	voltage-dependent L-type calcium channel subunit alpha-1F isoform 3
NM_005183.4	NP_005174.2	voltage-dependent L-type calcium channel subunit alpha-1F isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	27226626	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27226626	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	15897456	GOA
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	12111638	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	27226626	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	9662399	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	15897456	GOA
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	15897456	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNA1F Protein Structure

Ion_trans

Ca_chan_IQ

0
400
800
1200
1600
1977 a.a.

Protein Preferred Names	Protein Names
voltage-dependent L-type calcium channel subunit alpha-1F	calcium channel, voltage-dependent, L type, alpha 1F subunit

CACNA1F Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86255	CACNA1F Antibody (YA5947)	WB, FC	Human

Related Diseases

Diseases	Alias
Aland Island Eye Disease	AIED Forsius-Eriksson Type Ocular Albinism Forsius-Eriksson Syndrome Autoimmune Inner Ear Disease Forsius Eriksson Type Ocular Albinism Aland Islands Eye Disease Aaland Island Eye Disease Ocular Albinism, Type Ii
Night Blindness, Congenital Stationary, Type 2a	Congenital Stationary Night Blindness 2a CSNB2A Csnb2 Csnb, Incomplete, X-Linked Night Blindness, Congenital Stationary, Type 2 Night Blindness, Congenital Stationary , 2a, X-Linked Congenital Stationary Night Blindness 2a X-Linked Night Blindness, Congenital Stationary, 2a Congenital Stationary Night Blindness Type 2 Incomplete X-Linked Csnb Night Blindness, Congenital Stationary, X-Linked, Type 2a Blindness, Night, Stationary, Congenital, Type 2a
Cone-Rod Dystrophy, X-Linked, 3	CORDX3 X-Linked Cone-Rod Dystrophy 3 Cone-Rod Dystrophy X-Linked 3 Cone-Rod Dystrophy, X-Linked 3 Dystrophy, Cone-Rod, X-Linked, Type 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Night Blindness	Nyctalopia
Amblyopia	Lazy Eye
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Oguchi Disease	Stationary Night Blindness, Oguchi Type Congenital Stationary Night Blindness, Oguchi Type Oguchi Syndrome Oguchis Disease
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
X-Linked Congenital Stationary Night Blindness	X-Linked Csnb Congenital Stationary Night Blindness With Myopia Hemeralopia-Myopia Myopia-Night Blindness Xlcsnb Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Type 1e	CSNB1E Congenital Stationary Night Blindness 1e Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1e, Autosomal Recessive Congenital Stationary Night Blindness 1e Autosomal Recessive Night Blindness, Congenital Stationary, 1e Complete Autosomal Recessive Csnb Csnb1 Night Blindness, Congenital Stationary, Type 1 Blindness, Night, Stationary, Congenital, Type 1e
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Astigmatism
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Retinal Cone Dystrophy 4	RCD4 Doid:0081023 Dystrophy, Retinal Cone, Type 4
Night Blindness, Congenital Stationary, Type 1a	Congenital Stationary Night Blindness 1a CSNB1A Hemeralopia-Myopia Myopia-Night Blindness Night Blindness, Congenital Stationary , 1a, X-Linked Congenital Stationary Night Blindness With Myopia Csnb, Complete, X-Linked Night Blindness, Congenital Stationary, With Myopia Nbm1 Complete Csnb X-Linked Congenital Stationary Night Blindness 1a X-Linked Nbmi Night Blindness, Congenital Stationary, 1a Complete X-Linked Csnb Nyctalopia Xlcsnb X-Linked Congenital Stationary Night Blindness Blindness, Night, Stationary, Congenital, Type 1a Night Blindness X-Linked Csnb Night Blindness, Congenital Stationary, Type 2a
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital Stationary Night Blindness Autosomal Dominant 1 CSNBAD1 Rhodopsin-Related Congenital Stationary Night Blindness Night Blindness, Congenital Stationary, Rhodopsin-Related Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1
Night Blindness, Congenital Stationary, Type 1c	Congenital Stationary Night Blindness 1c CSNB1C Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1c, Autosomal Recessive Congenital Stationary Night Blindness 1c Autosomal Recessive Night Blindness, Congenital Stationary, 1c Complete Autosomal Recessive Csnb Night Blindness, Congenital Stationary, Type Ic Blindness, Night, Stationary, Congenital, Type 1c
Cone-Rod Dystrophy, X-Linked, 2	CORDX2 Cod2 X-Linked Cone-Rod Dystrophy 2 Cone Dystrophy 2, X-Linked Cone Dystrophy, Progressive X-Linked, 2 X-Linked Cone Dystrophy 2 Cone-Rod Dystrophy X-Linked 2 Cone Dystrophy X-Linked 2 Cone Dystrophy-2, X-Linked
Retinitis Pigmentosa 32	RP32 Retinitis Pigmentosa-32
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Retinitis Pigmentosa 24	RP24 Retinitis Pigmentosa-24
Abnormal Threshold Of Rods	Abnormal Dark Adaptation Curve
Refractive Error	Refractive Errors
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 3
Pathologic Nystagmus	Nystagmus
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Congenital Nystagmus	Nystagmus, Congenital Nystagmus Congenital
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01796	CACNA1F Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CACNA1F	MGD	MGI:1859639
Bos taurus	CACNA1F	VGNC	VGNC:26676
Rattus norvegicus	CACNA1F	RGD	RGD:621535
Macaca mulatta	CACNA1F	VGNC	VGNC:70503
Felis catus	CACNA1F	VGNC	VGNC:60297
Canis familiaris	CACNA1F	VGNC	VGNC:38636
Others	CACNA1F	NCBI