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HUMAN:CAC1F

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CACNA1F (synonyms: CACNAF1)
Protein Name(s) Voltage-dependent L-type calcium channel subunit alpha-1F

Voltage-gated calcium channel subunit alpha Cav1.4

External Links
UniProt O60840
EMBL AJ006216
AF067227
AJ224874
AF201304
JF701915
AF196779
AF235097
U93305
CCDS CCDS35253.1
CCDS59166.1
CCDS59167.1
RefSeq NP_001243718.1
NP_001243719.1
NP_005174.2
UniGene Hs.632799
ProteinModelPortal O60840
SMR O60840
BioGrid 107232
IntAct O60840
STRING 9606.ENSP00000365441
ChEMBL CHEMBL2095229
DrugBank DB00568
DB04920
DB04855
DB00393
DB00421
DB00661
GuidetoPHARMACOLOGY 531
TCDB 1.A.1.11.11
PhosphoSite O60840
PaxDb O60840
PRIDE O60840
Ensembl ENST00000323022
ENST00000376251
ENST00000376265
GeneID 778
KEGG hsa:778
UCSC uc004dnb.3
uc031tjm.1
CTD 778
GeneCards GC0XM049061
GeneReviews CACNA1F
HGNC HGNC:1393
MIM 300071
300110
300476
300600
neXtProt NX_O60840
Orphanet 178333
1872
215
PharmGKB PA26010
eggNOG COG1226
GeneTree ENSGT00760000118827
HOGENOM HOG000231529
HOVERGEN HBG050763
InParanoid O60840
KO K04853
OMA GHNAPRR
PhylomeDB O60840
TreeFam TF312805
ChiTaRS CACNA1F
GeneWiki Cav1.4
GenomeRNAi 778
NextBio 3144
PRO PR:O60840
Proteomes UP000005640
Bgee O60840
CleanEx HS_CACNA1F
ExpressionAtlas O60840
Genevestigator O60840
GO GO:0016021
GO:0043204
GO:0001750
GO:0005891
GO:0008331
GO:0046872
GO:0005245
GO:0007409
GO:0070509
GO:0006874
GO:0048813
GO:0050908
GO:0086010
GO:0060041
GO:0007601
Gene3D 1.20.120.350
InterPro IPR027359
IPR005821
IPR014873
IPR030157
IPR005446
IPR002077
PANTHER PTHR10037:SF184
Pfam PF08763
PF00520
PRINTS PR00167
PR01630
SMART SM01062

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0005245

voltage-gated calcium channel activity

PMID:27226626[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0050908

detection of light stimulus involved in visual perception

PMID:7571473[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

PMID:15897456[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

PMID:9662400[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

PMID:9662399[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

PMID:16505158[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005891

voltage-gated calcium channel complex

PMID:15897456[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:15897456[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0070509

calcium ion import

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001295314
RGD:2244
RGD:2245
RGD:2246
RGD:628852
RGD:70973
UniProtKB:Q01668

P

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:88293
PANTHER:PTN000004694
RGD:2245
RGD:70973
RGD:70983
UniProtKB:O60840
UniProtKB:Q01668
UniProtKB:Q13698
UniProtKB:Q13936

F

Seeded From UniProt

complete

involved_in

GO:0006816

calcium ion transport

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0263111
MGI:MGI:103013
MGI:MGI:106217
MGI:MGI:109482
MGI:MGI:88294
MGI:MGI:88296
PANTHER:PTN001295293
RGD:2244
RGD:2245
RGD:628852
RGD:70973
RGD:70983
SGD:S000003449
UniProtKB:Q01668
UniProtKB:Q13698
ZFIN:ZDB-GENE-020129-1

P

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0001991
FB:FBgn0263111
MGI:MGI:103013
MGI:MGI:106217
MGI:MGI:109482
MGI:MGI:1859639
MGI:MGI:88294
MGI:MGI:88296
PANTHER:PTN001295314
RGD:2244
RGD:2245
RGD:2246
RGD:628852
RGD:70973
UniProtKB:O00555
UniProtKB:O60840
UniProtKB:Q01668
UniProtKB:Q13698
UniProtKB:Q13936
UniProtKB:Q15878
WB:WBGene00001187

F

Seeded From UniProt

complete

part_of

GO:0043204

perikaryon

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:G3V9W8
ensembl:ENSRNOP00000061835

C

Seeded From UniProt

complete

part_of

GO:0043025

neuronal cell body

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:G3V9W8
ensembl:ENSRNOP00000061835

C

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:G3V9W8
ensembl:ENSRNOP00000061835

P

Seeded From UniProt

complete

part_of

GO:0001750

photoreceptor outer segment

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:G3V9W8
ensembl:ENSRNOP00000061835

C

Seeded From UniProt

complete

enables

GO:0005216

ion channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

F

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002077
InterPro:IPR005446

F

Seeded From UniProt

complete

part_of

GO:0005891

voltage-gated calcium channel complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002077
InterPro:IPR005446
InterPro:IPR030157

C

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030157

P

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030157

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

C

Seeded From UniProt

complete

involved_in

GO:0043029

T cell homeostasis

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030157

P

Seeded From UniProt

complete

involved_in

GO:0050856

regulation of T cell receptor signaling pathway

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030157

P

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002077
InterPro:IPR005446
InterPro:IPR030157

P

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:27226626[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1901386

negative regulation of voltage-gated calcium channel activity

PMID:27226626[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0008331

P

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:27226626[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1901386

negative regulation of voltage-gated calcium channel activity

PMID:27226626[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0008331

P

Seeded From UniProt

complete

involved_in

GO:0061337

cardiac conduction

Reactome:R-HSA-5576893
Reactome:R-HSA-5576892

ECO:0000304

author statement supported by traceable reference used in manual assertion


P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-5577213

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006816

calcium ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0109

P

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

involved_in

GO:0034765

regulation of ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

P

Seeded From UniProt

complete

enables

GO:0005262

calcium channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0107

F

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0844

P

Seeded From UniProt

complete

involved_in

GO:0050896

response to stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0716

P

Seeded From UniProt

complete

enables

GO:0005244

voltage-gated ion channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472
UniProtKB-SubCell:SL-0162

C

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0107

P

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 Haeseleer, F et al. (2016) Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina. J. Biol. Chem. 291 15663-73 PubMed GONUTS page
  2. ↑ Tremblay, F et al. (1995) The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vision Res. 35 2383-93 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 Hemara-Wahanui, A et al. (2005) A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc. Natl. Acad. Sci. U.S.A. 102 7553-8 PubMed GONUTS page
  4. ↑ Bech-Hansen, NT et al. (1998) Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat. Genet. 19 264-7 PubMed GONUTS page
  5. ↑ Strom, TM et al. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet. 19 260-3 PubMed GONUTS page
  6. ↑ Jalkanen, R et al. (2006) X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J. Med. Genet. 43 699-704 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
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