Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	778
Gene name	Calcium voltage-gated channel subunit alpha1 F
Gene symbol	CACNA1F
Synonyms (NCBI Gene)	AIEDCOD3COD4CORDXCORDX3CSNB2CSNB2ACSNBX2Cav1.4Cav1.4alpha1JM8JMC8OA2
Chromosome	X
Chromosome location	Xp11.23
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

Show/Hide all (52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80359870	->G	Pathogenic	Coding sequence variant, frameshift variant
rs122456133	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs122456134	G>A	Pathogenic	Coding sequence variant, stop gained
rs122456135	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs122456136	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs138447882	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs141010716	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs144131971	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149685267	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781923856	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782362725	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs782575860	C>T	Pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs782581701	G>A	Pathogenic	Stop gained, coding sequence variant
rs782740998	G>A	Pathogenic	Stop gained, coding sequence variant
rs797044676	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863223294	GACGC>CCA	Pathogenic	Splice acceptor variant, coding sequence variant
rs863225090	C>T	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs879255389	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs886039559	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039560	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886041479	C>-	Pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant
rs886044841	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1057516199	T>C	Likely-pathogenic	Splice acceptor variant
rs1057518829	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1057523895	T>G	Likely-pathogenic	Splice acceptor variant
rs1064794711	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797371	C>T	Likely-pathogenic	Splice donor variant
rs1085307529	G>A,C,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1358925739	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1365490247	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs1557105474	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557106008	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557106557	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1557107192	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557107417	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557108147	C>T	Likely-pathogenic	Splice donor variant
rs1557109796	TCGGC>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557109912	CTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCC>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1557110046	->A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557110192	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557110499	AAG>-	Pathogenic, likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1557110988	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1602627593	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602628429	C>T	Likely-pathogenic	Intron variant
rs1602630650	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602639528	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602639607	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602641426	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1602644716	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602653110	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602653742	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602658505	->GCCACTG	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	15897456, 27226626
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	12111638
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27226626
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	15897456
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	9662399, 9662400, 16505158
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	27226626
GO:0016020	Component	Membrane	IDA	15897456
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	IDA	27226626

MIM	HGNC	e!Ensembl
300110	1393	ENSG00000102001

O60840

Protein name

Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4)

Protein function

[Isoform 1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, g

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	91 → 383	Ion transport protein	Family
PF00520	Ion_trans	528 → 768	Ion transport protein	Family
PF00520	Ion_trans	870 → 1148	Ion transport protein	Family
PF00520	Ion_trans	1189 → 1452	Ion transport protein	Family
PF16905	GPHH	1461 → 1514	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1524 → 1598	Voltage gated calcium channel IQ domain	Domain
PF16885	CAC1F_C	1619 → 1976	Voltage-gated calcium channel subunit alpha, C-term	Family

Tissue specificity

TISSUE SPECIFICITY: Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626). {ECO:0000269|PubMed:10873387, ECO:0000269|PubMed:27226626}.

Sequence

MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE
TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF
LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL
LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG
IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK
DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE
KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS
AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ
LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF
TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF
RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL
IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF
IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR
MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG
LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS
LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT
KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA
GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL
AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL

Sequence length

1977

Interactions

View interactions

263

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic	rs782362725	RCV000504925
Aland island eye disease	Pathogenic; Likely pathogenic	rs2065655753, rs2147897090, rs797044676, rs886039559, rs2147900556, rs886044841, rs2520852085, rs2520789817, rs1064797371	RCV001333361 RCV001809151 RCV000787554 RCV000787553 RCV000012387 RCV002502130 RCV003333883 RCV003448822 RCV001253530
Amblyopia	Pathogenic	rs1057518829	RCV000415143
CACNA1F-related disorder	Likely pathogenic; Pathogenic	rs2147896131, rs122456134, rs886044841, rs781960727, rs80359870	RCV004731166 RCV004730844 RCV003417898 RCV003404675 RCV003398551
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs1064797371	RCV005899708
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1064797371	RCV005899707
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs797044676, rs2520906768, rs1557110499, rs782581701, rs1602653110	RCV005625373 RCV003324686 RCV002267736 RCV003324533 RCV002267752
Congenital stationary night blindness	Pathogenic; Likely pathogenic	rs122456134, rs122456135, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs1358925739, rs1602627593, rs782740998 View all (7 more)	RCV000504913 RCV001002915 RCV000504818 RCV000504804 RCV000505176 RCV000504722 RCV000505088 RCV000504896 RCV000504710 RCV000505071 RCV000505132 RCV000505008 RCV001199446 RCV001002910 RCV001002912 RCV001002913 RCV001002914 RCV001002916 RCV001002917 RCV001002921 RCV001002911 RCV001199448
Congenital stationary night blindness 2A	Likely pathogenic; Pathogenic	rs1249437161, rs2520867977, rs2520742477, rs2520968443, rs2065832850, rs2519139558, rs2519143271, rs2519130860, rs886039559, rs886039560, rs122456133, rs122456134, rs122456135, rs2147895629, rs886044841 View all (10 more)	RCV002272468 RCV002289397 RCV003164459 RCV003164460 RCV003164461 RCV003164462 RCV003164464 RCV003155597 RCV001197452 RCV003989512 RCV000012380 RCV000012381 RCV000012383 RCV000012384 RCV002502130 RCV000020629 RCV001199353 RCV000754588 RCV001270458 RCV001270456 RCV001270461 RCV001270460 RCV001270459 RCV001270457 RCV001270462
Congenital stationary night blindness, type 2A, severe	Pathogenic	rs122456136	RCV000012385
Myopia	Pathogenic	rs1057518829	RCV000415143
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147917894, rs1602653110	RCV005912616 RCV005912358
Optic atrophy	Pathogenic	rs782581701, rs782740998	RCV004817949 RCV004818137
Progressive cone dystrophy (without rod involvement)	Likely pathogenic; Pathogenic	rs1557106557	RCV000787555
Retinal disorder	Pathogenic	rs797044676	RCV006261954
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2065843670, rs797044676, rs122456134, rs80359870, rs1557106557, rs1365490247, rs2065670611, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs782557600, rs2065753439	RCV001591908 RCV001075342 RCV001073304 RCV004814910 RCV000505118 RCV001074649 RCV001075643 RCV001074388 RCV001073941 RCV001075550 RCV001074671 RCV001074580 RCV001075764 RCV001073815 RCV001075266
Retinitis pigmentosa	Likely pathogenic	rs1602653742	RCV000787556
See cases	Likely pathogenic; Pathogenic	rs782074040	RCV002252322
Thyroid cancer, nonmedullary, 1	Pathogenic	rs782034481	RCV005910801
X-linked cone-rod dystrophy 3	Likely pathogenic; Pathogenic	rs1249437161, rs2147916480, rs2147910175, rs2147916504, rs863225090, rs2520965630, rs2519143252, rs886039559, rs886039560, rs863223294, rs886044841, rs2520865607, rs1057516199, rs1358925739, rs782740998	RCV005253837 RCV001542624 RCV002272983 RCV002273195 RCV000201353 RCV004698875 RCV003153232 RCV001542625 RCV005869192 RCV000012386 RCV002502130 RCV003991218 RCV000408778 RCV005601094 RCV002286797

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Benign; Likely benign	rs146847449	RCV000201365
Adrenocortical carcinoma, hereditary	Uncertain significance	rs370863603	RCV005909178
CACNA1F-related retinopathy	Conflicting classifications of pathogenicity	rs782092924	RCV005359804
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	rs782241013	RCV005913567
Familial pancreatic carcinoma	Benign	rs11796927	RCV005924639
Macular dystrophy	Conflicting classifications of pathogenicity	rs199932603	RCV000787803
Ovarian cancer	Benign	rs11796927	RCV005924638
Thymoma	Benign	rs11796927	RCV005924640

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aland Island Eye Disease	Associate	22194652, 28002560, 33513752
Astigmatism	Associate	16505158
Atrophy	Associate	40269797
Colorectal Neoplasms	Associate	31724326
Cone Rod Dystrophies	Associate	16505158, 23776498, 24124559
Cone Rod Dystrophy 3	Associate	24124559
Cone Rod Dystrophy X Linked 2	Associate	16505158, 36165086
Cone Rod Dystrophy X Linked 3	Associate	28002560
Hyperopia	Associate	28751151
Hypokalemic Periodic Paralysis	Associate	15098604
Leber Congenital Amaurosis	Associate	29062221, 36165086
Mesenteric Vascular Occlusion	Associate	36883376
Moyamoya Disease	Associate	36883376
Multiple Sclerosis	Associate	36232761
Myopia	Associate	22194652, 28751151, 35567543, 37191617, 38243264
Night Blindness	Associate	30355583, 40269797
Night blindness congenital stationary	Associate	14609846, 15761389, 15897456, 19578023, 21920492, 22194652, 22277662, 24796500, 26234941, 28002560, 29062221, 30186847, 30355583, 32013026, 33037074 View all (9 more)
Night blindness congenital stationary	Stimulate	16505158
Nystagmus Pathologic	Associate	28002560, 40269797
O'Donnell Pappas syndrome	Associate	22194652, 28002560
Photophobia	Associate	22194652
Refsum Disease Infantile	Associate	36165086
Retinal Diseases	Associate	15897456, 37191617, 38160664, 40269797
Retinal Dystrophies	Associate	28751151, 32013026, 35567543
Retinitis	Associate	16505158
Retinitis Pigmentosa	Associate	21920492, 25999675, 26075273, 26436388
Retinitis Pigmentosa 2	Associate	26075273
Strabismus	Associate	38243264
Vision Disorders	Associate	15897456, 8933343
X Linked Infantile Nystagmus	Associate	28378818

CACNA1F (calcium voltage-gated channel subunit alpha1 F)