CACNA1F
entrez
778
canonical
uniprot
O60840
canonical
ensembl
ENSG00000102001
resolver
ensp
ENSP00000321618
resolver
ensp
ENSP00000365427
resolver
ensp
ENSP00000365441
resolver
genesymbol
CACNA1F
resolver
genesymbol_syn
CACNAF1
resolver
hgnc
HGNC:1393
resolver
uniprot
A6NI29
resolver
uniprot
F5CIQ9
resolver
uniprot
O43901
resolver
uniprot
O95226
resolver
uniprot
Q9UHB1
resolver
uniprot_entry
CAC1F_HUMAN
resolver
uniprot_sec
A6NI29
resolver
uniprot_sec
F5CIQ9
resolver
uniprot_sec
O43901
resolver
uniprot_sec
O95226
resolver
uniprot_sec
Q9UHB1
resolver
amino_acid_sequence
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPSADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTFIKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAGLRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVSLPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGTKGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRKPSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:11281458, ECO:0000269|PubMed:12111638, ECO:0000269|PubMed:12187427, ECO:0000269|PubMed:15897456, ECO:0000269|PubMed:22194652, ECO:0000269|PubMed:9662399, ECO:0000269|PubMed:9662400}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy, X-linked 3 (CORDX3) [MIM:300476]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:16505158}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Aaland island eye disease (AIED) [MIM:300600]: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. {ECO:0000269|PubMed:17525176, ECO:0000269|PubMed:22194652}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization. {ECO:0000269|PubMed:15897456, ECO:0000269|PubMed:27226626}.; FUNCTION: [Isoform 4]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. {ECO:0000269|PubMed:27226626}.; FUNCTION: [Isoform 5]: 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, gene expression, cell motility, cell division and cell death. {ECO:0000269|PubMed:27226626}.; FUNCTION: [Isoform 6]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. {ECO:0000269|PubMed:27226626}.
uniprot
proteins
mass_dalton
220678
uniprot
proteins
protein_family
CACNA1F subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
10873387
uniprot
proteins
pubmed
11281458
uniprot
proteins
pubmed
12111638
uniprot
proteins
pubmed
12187427
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15897456
uniprot
proteins
pubmed
16505158
uniprot
proteins
pubmed
16960802
uniprot
proteins
pubmed
17525176
uniprot
proteins
pubmed
19029287
uniprot
proteins
pubmed
22194652
uniprot
proteins
pubmed
27226626
uniprot
proteins
pubmed
9344658
uniprot
proteins
pubmed
9662399
uniprot
proteins
pubmed
9662400
uniprot
proteins
sequence_length
1977
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 93..111; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 130..149; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 162..180; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 202..220; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 240..259; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 348..372; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 530..549; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 565..583; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 592..610; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 621..639; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 659..679; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 734..758; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 872..890; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 907..926; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 939..957; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 964..983; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1003..1022; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1113..1133; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1191..1209; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1225..1244; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1252..1273; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1291..1310; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1330..1349; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1417..1441; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000255
uniprot
proteins