| Type | Description |
|---|---|
| Definition | retinitis pigmentosa GTPase regulator |
| Date | Results | Publications |
|---|---|---|
| 2019-03-09 10:10:00 | These studies provide a human-XLRP disease model but also act as a platform to design genome editing technology for retinal degenerative diseases using the currently available endonucleases. | 30213530 |
| 2017-11-25 13:24:00 | In induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin. | 28814713 |
| 2017-07-29 11:36:00 | Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. | 26936822 |
| 2017-06-10 11:38:00 | We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9, and Rpgr-cko) mice. In patients, there was pronounced macular disease | 27798110 |
| 2017-01-28 10:32:00 | The discordant effect of the loss of RPGR on rod-dominant or cone-only rodent retinas is shown. | 26908598 |
| Type | IDs |
|---|---|
| Synonymous | Rd9, Rp3h |
| Gene |
UniProtKB-ID:
RPGR_MOUSE,
Q8CDM3_MOUSE,
A0A067XG46_MOUSE,
Q8CAJ5_MOUSE,
A2ADP2_MOUSE,
Q3UTY5_MOUSE
UniprotKB:
Q9R0X5,
Q8CDM3,
A0A067XG46,
Q8CAJ5,
A2ADP2,
Q3UTY5
UniParc:
UPI000002B2B8,
UPI0000025D75,
UPI000002B2B9,
UPI00000E95F9,
UPI00000E9221,
UPI000002B2B7,
UPI00000236DA,
UPI0002A7BC5A,
UPI00005ABE95,
UPI0000DBEDBE
EMBL:
AF044677,
AJ318464,
AJ238396,
AK029864,
AL671042,
AK138977,
AK038652,
HQ260316,
AK017192,
BX005236
Ensembl:
ENSMUSG00000031174
KO:
mmu:19893
|
| Nucleutide sequences |
EMBL-CDS:
AEO00588.1,
BAB30628.3,
CAC86115.1,
CAM22657.1,
CAB54041.1,
AAC40190.1,
BAC26649.1,
BAC30082.1,
BAE23845.1
Ensembl_TRS:
ENSMUST00000115532,
ENSMUST00000044598,
ENSMUST00000073392,
ENSMUST00000115534
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000111194,
ENSMUSP00000037358,
ENSMUSP00000073106,
ENSMUSP00000111196
RefSeq:
NP_001171424.1,
NP_001171421.1,
NP_001171423.1,
NP_001171425.1,
NP_001171422.1,
NP_035415.1
|
| Others |
UniRef100:
UniRef100_A2ADP2,
UniRef100_Q8CAJ5,
UniRef100_Q8CDM3,
UniRef100_Q9R0X5
UniRef90:
UniRef90_Q9R0X5,
UniRef90_Q8CAJ5,
UniRef90_Q9R0X5-3
UniRef50:
UniRef50_Q92834-3,
UniRef50_A0A1U8CA34,
UniRef50_Q92834
UniGene:
Mm.247556
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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