| Type | Description |
|---|---|
| Definition | calcium voltage-gated channel subunit alpha1 F |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 12:27:00 | An Ashkenazi Jewish founder mutation in CACNA1F gene is associated with congenital stationary night blindness. | 31651202 |
| 2020-04-04 11:16:00 | Data revealed the presence of intronic and synonymous disease-causing variants leading to miss-splicing of CACNA1F-mediated inherited retinal disorders. | 30825406 |
| 2019-10-26 11:34:00 | In Cav1.4Deltaex47, Ca(2+)-dependent inactivation (CDI) requires both the N-terminal and C-terminal (C lobe) lobes of CaM to bind Ca(2+), whereas CDI in K1591X is driven mainly by Ca(2+) binding to the C lobe. | 30355583 |
| 2019-04-13 12:18:00 | We show that genetic testing may help to differentiate between optic atrophy, Leber's congenital amaurosis , and CACNA1F-associated retinopathy at a much earlier age, in absence of electrophysiological examination and by widely overlapping phenotypes. | 30260717 |
| 2018-09-01 11:39:00 | CaV1.4 channels are indeed modulated by phosphorylation within the inhibitor of Ca(2+)-dependent inactivation (ICDI) motif. | 27456671 |
| Type | IDs |
|---|---|
| Synonymous | AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2 |
| Gene |
UniProtKB-ID:
CAC1F_HUMAN
UniprotKB:
O60840
UniParc:
UPI0009E189EC,
UPI0009E189EB,
UPI0009E189E8,
UPI0000072854,
UPI0000127279,
UPI0000072089
EMBL:
AJ224874,
AF235097,
AF196779,
AF067227,
AJ006216,
JF701915,
AF201304,
U93305
Ensembl:
ENSG00000102001
KO:
hsa:778
|
| Nucleutide sequences |
EMBL-CDS:
CAA06916.1,
AED89557.1,
AAD03587.1,
AAF15290.1,
AAB92359.1,
CAA12175.1
Ensembl_TRS:
ENST00000376265,
ENST00000376251,
ENST00000323022
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000365427,
ENSP00000321618,
ENSP00000365441
RefSeq:
NP_005174.2,
NP_001243719.1,
NP_001243718.1,
XP_011542285.1,
XP_016885325.1
|
| Others |
UniRef100:
UniRef100_O60840
UniRef90:
UniRef90_O60840
UniRef50:
UniRef50_O60840
UniGene:
Hs.632799
CCDS:
CCDS59167.1,
CCDS35253.1,
CCDS59166.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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