| Type | Description |
|---|---|
| Definition | RP1 like 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 11:33:00 | Homozygous loss-of-function mutations in RP1L1 gene is associated with retinitis pigmentosa. | 31833436 |
| 2020-07-04 10:24:00 | Two recurrent RP1L1 variants are related to occult macular dystrophy in the Chinese population. | 32176261 |
| 2019-03-09 11:44:00 | Autosomal dominant occult macular dystrophy (OCMD) phenotype showed consistent clinical findings including classical microstructural changes on SD-OCT. An important hallmark of RP1L1-related OCMD is the dominant family history with reduced penetrance. | 30025130 |
| 2017-12-16 12:31:00 | the presence of pathogenic RP1L1 variants is significantly associated with characteristic abnormalities of the photoreceptor layer in the macular region (e.g., blurring of the ellipsoid zone [EZ] and absence of the interdigitation zone | 29196766 |
| 2017-11-18 13:42:00 | We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. | 27029556 |
| Type | IDs |
|---|---|
| Synonymous | DCDC4B |
| Gene |
UniProtKB-ID:
RP1L1_HUMAN
UniprotKB:
Q8IWN7
UniParc:
UPI00001C0E5D,
UPI00001AF9CC
EMBL:
AK127545,
AC104964,
AY168345,
AY168341,
AJ491324,
AY168344,
AY168342,
AY168343,
AC105001,
AY168346
Ensembl:
ENSG00000183638
KO:
hsa:94137
|
| Nucleutide sequences |
EMBL-CDS:
AAN86959.1,
AAN86961.1,
AAN86962.1,
AAN86963.1,
AAN86960.1,
AAN86964.1,
CAD36957.1
Ensembl_TRS:
ENST00000382483
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000371923
RefSeq:
NP_849188.4
|
| Others |
UniRef100:
UniRef100_Q8IWN7
UniRef90:
UniRef90_Q8IWN7
UniRef50:
UniRef50_Q8IWN7
UniGene:
Hs.33538
CCDS:
CCDS43708.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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