| Type | Description |
|---|---|
| Definition | retinoschisin 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:27:00 | X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation. | 32124668 |
| 2021-01-23 13:01:00 | Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. | 32050117 |
| 2020-04-04 12:20:00 | Mutation in the RS1 gene is associated with X-linked retinoschisis. | 30608181 |
| 2020-02-29 11:30:00 | These observations suggest that branched networks of RS1 may play a stabilizing role in maintaining the integrity of the retina. | 30630865 |
| 2019-08-31 12:04:00 | Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. | 31006083 |
| Type | IDs |
|---|---|
| Synonymous | RS, XLRS1 |
| Gene |
UniProtKB-ID:
XLRS1_HUMAN
UniprotKB:
O15537
UniParc:
UPI0000139001
EMBL:
AF018958,
Z94056,
AF014459,
AF018962,
DQ426892,
Z92542,
AF018960,
AF018959,
AF018961,
AF018963
Ensembl:
ENSG00000102104
KO:
hsa:6247
|
| Nucleutide sequences |
EMBL-CDS:
ABD90543.1,
AAC17928.1,
AAC18405.1
Ensembl_TRS:
ENST00000379984
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369320
RefSeq:
NP_000321.1
|
| Others |
UniRef100:
UniRef100_O15537
UniRef90:
UniRef90_O15537
UniRef50:
UniRef50_O15537
UniGene:
Hs.715725
CCDS:
CCDS14187.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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