| Type | Description |
|---|---|
| Definition | S-antigen visual arrestin |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:33:00 | Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up. | 32333190 |
| 2020-03-14 12:18:00 | Retinitis pigmentosa with SAG mutations often shows a characteristic golden sheen surrounding posterior pigmentary retinal degeneration. Oguchi disease can show progressive degeneration in adulthood, rarely resulting in RP. | 31257036 |
| 2019-03-02 10:58:00 | Arrestin-1 was found to be expressed in RCC (58.7% of cases) and renal oncocytoma (90% of cases) cells, while being absent in healthy kidney. The expression of arrestin-1 in RCC metastases was more prominent than in primary tumours. Hypomethylation of the SAG gene promoter is unlikely to be the mechanism for the aberrant expression of arrestin-1. | 30389514 |
| 2017-07-22 11:48:00 | This is the first dominant-acting mutation identified in SAG, a founder mutation possibly originating in Mexico several centuries ago. The phenotype is clearly adRP and is distinct from the previously reported phenotypes of recessive null mutations, that is, Oguchi disease and recessive RP. | 28549094 |
| 2015-12-05 11:14:00 | Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene. | 21447990 |
| Type | IDs |
|---|---|
| Synonymous | RP47, S-AG |
| Gene |
UniProtKB-ID:
ARRS_HUMAN
UniprotKB:
P10523
UniParc:
UPI000013CD8D
EMBL:
U70972,
U70973,
U70970,
U70965,
U70976,
X12453,
U70974,
U70964,
U70966,
DQ980620,
AC013726,
U70967,
U70968,
U70975,
U70962,
U70963,
U70971,
U70969
Ensembl:
ENSG00000281857,
ENSG00000130561
KO:
hsa:6295
|
| Nucleutide sequences |
EMBL-CDS:
AAY14861.1,
ABJ97141.1,
AAC50992.1,
CAA30984.1
Ensembl_TRS:
ENST00000631149,
ENST00000409110
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386444,
ENSP00000486571
RefSeq:
XP_011509898.1,
XP_016860131.1,
XP_024308804.1,
XP_016860132.1,
NP_000532.2,
XP_011509895.1,
XP_011509896.1,
XP_016860130.1
|
| Others |
UniRef100:
UniRef100_P10523
UniRef90:
UniRef90_P10523
UniRef50:
UniRef50_P49407-2
UniGene:
Hs.32721
CCDS:
CCDS46545.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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