| Gene Symbol |
RPGRIP1
|
| Entrez Gene |
57096
|
| Alt Symbol |
CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
retinitis pigmentosa GTPase regulator interacting protein 1
|
| Other Description |
RPGR-interacting protein 1|X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
|
| Swissprots |
Q9HB95 Q9HB94 Q96QA8 Q96KN7 Q7Z2W6 Q9HBK6 Q8IXV5 Q9NR40
|
| Accessions |
CAD01136 EAW66388 EAW66389 EAW66390 EAW66391 Q96KN7 AF227257 AAG10246 AF260257 AAF91371 AF265666 AAG10000 AF265667 AAG10001 AJ417067 CAD01135 AK301780 BAG63237 AW593388 AY914561 AAX11416 BC039089 AAH39089 BC148360 AAI48361 BX571740 CAE11866 XM_005267879 XP_005267936 XM_005267880 XP_005267937 XM_005267881 XP_005267938 XM_011536978 XP_011535280 XM_011536979 XP_011535281 XM_011536980 XP_011535282 XM_011536981 XP_011535283 XM_011536982 XP_011535284 XM_011536983 XP_011535285 NM_020366 NP_065099
|
| Function |
May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. {ECO:0000250|UniProtKB:Q9EPQ2, ECO:0000305|PubMed:10958648}.
|
| Subcellular Location |
Cell projection, cilium {ECO:0000269|PubMed:21685204}. Note=Situated between the axonemal microtubules and the plasma membrane. {ECO:0000250|UniProtKB:Q9EPQ2}.
|
| Tissue Specificity |
Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. {ECO:0000269|PubMed:10958647, ECO:0000269|PubMed:10958648, ECO:0000269|PubMed:12140192}.
|