| Type | Description |
|---|---|
| Definition | OCRL inositol polyphosphate-5-phosphatase |
| Date | Results | Publications |
|---|---|---|
| 2020-11-28 13:10:00 | Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease. | 31674016 |
| 2020-06-20 12:31:00 | This is the first report of an interstitial deletion encompassing OCRL and SMARCA1 gene in Lowe syndrome. | 31376231 |
| 2020-05-16 12:21:00 | Mutation of OCRL1, the human orthologue of dOCRL, causes oculocerebrorenal Lowe syndrome, a rare multisystemic genetic disease. Both OCRL1 and dOCRL loss have been shown to promote accumulation of PtdIns(4,5)P2 on endosomes and cytokinesis defects | 31118240 |
| 2020-01-18 12:15:00 | The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant | 31922591 |
| 2019-11-09 12:51:00 | verify the interaction of LpnE(73-375) and LpnE(22-375) with Oculocerebrorenal syndrome of Lowe protein (OCRL) residues 10-208 | 30479037 |
| Type | IDs |
|---|---|
| Synonymous | INPP5F, LOCR, NPHL2, OCRL-1, OCRL1 |
| Gene |
UniProtKB-ID:
OCRL_HUMAN,
Q504W7_HUMAN,
A0A2X0TVZ9_HUMAN
UniprotKB:
Q01968,
Q504W7,
A0A2X0TVZ9
UniParc:
UPI0000167B0B,
UPI000050D025,
UPI000015FD3C
EMBL:
S62085,
BC144106,
AL662877,
CH471107,
Z73496,
BC094726,
U57627,
LS482399,
BC130612,
AK293107,
AL022162,
AL138745,
M88162
Ensembl:
ENSG00000122126
KO:
hsa:4952
|
| Nucleutide sequences |
EMBL-CDS:
EAX11831.1,
EAX11832.1,
AAI30613.1,
AAI44107.1,
AAA59964.2,
BAF85796.1,
AAB26926.1,
AAB03839.2,
AAH94726.1,
SPT35776.1
Ensembl_TRS:
ENST00000371113,
ENST00000357121
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000349635,
ENSP00000360154
RefSeq:
NP_001578.2,
NP_000267.2,
NP_001305713.1
|
| Others |
UniRef100:
UniRef100_Q01968,
UniRef100_Q504W7,
UniRef100_Q01968-2
UniRef90:
UniRef90_Q01968
UniRef50:
UniRef50_Q01968
UniGene:
Hs.126357
CCDS:
CCDS35393.1,
CCDS35394.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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