Overview
| Uniprot ID | Q92834 |
|---|
| Protein Name | X-linked retinitis pigmentosa GTPase regulator |
|---|
| Gene Name | RPGR |
|---|
| Organism | Homo sapiens |
|---|
Kla Sites from experimental identification
| Position |
Flanking peptide |
| 85 |
PTCVKALKPEKVKLA |
| 88 |
VKALKPEKVKLAACG |
Function
Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A (PubMed:20631154). GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia (PubMed:21933838). May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity)
Protein Sequence
10
MREPEELMPD
20
SGAVFTFGKS
30
KFAENNPGKF
40
WFKNDVPVHL
50
SCGDEHSAVV
60
TGNNKLYMFG
70
SNNWGQLGLG
80
SKSAISKPTC
90
VKALKPEKVK
100
LAACGRNHTL
110
VSTEGGNVYA
120
TGGNNEGQLG
130
LGDTEERNTF
140
HVISFFTSEH
150
KIKQLSAGSN
160
TSAALTEDGR
170
LFMWGDNSEG
180
QIGLKNVSNV
190
CVPQQVTIGK
200
PVSWISCGYY
210
HSAFVTTDGE
220
LYVFGEPENG
230
KLGLPNQLLG
240
NHRTPQLVSE
250
IPEKVIQVAC
260
GGEHTVVLTE
270
NAVYTFGLGQ
280
FGQLGLGTFL
290
FETSEPKVIE
300
NIRDQTISYI
310
SCGENHTALI
320
TDIGLMYTFG
330
DGRHGKLGLG
340
LENFTNHFIP
350
TLCSNFLRFI
360
VKLVACGGCH
370
MVVFAAPHRG
380
VAKEIEFDEI
390
NDTCLSVATF
400
LPYSSLTSGN
410
VLQRTLSARM
420
RRRERERSPD
430
SFSMRRTLPP
440
IEGTLGLSAC
450
FLPNSVFPRC
460
SERNLQESVL
470
SEQDLMQPEE
480
PDYLLDEMTK
490
EAEIDNSSTV
500
ESLGETTDIL
510
NMTHIMSLNS
520
NEKSLKLSPV
530
QKQKKQQTIG
540
ELTQDTALTE
550
NDDSDEYEEM
560
SEMKEGKACK
570
QHVSQGIFMT
580
QPATTIEAFS
590
DEEVGNDTGQ
600
VGPQADTDGE
610
GLQKEVYRHE
620
NNNGVDQLDA
630
KEIEKESDGG
640
HSQKESEAEE
650
IDSEKETKLA
660
EIAGMKDLRE
670
REKSTKKMSP
680
FFGNLPDRGM
690
NTESEENKDF
700
VKKRESCKQD
710
VIFDSERESV
720
EKPDSYMEGA
730
SESQQGIADG
740
FQQPEAIEFS
750
SGEKEDDEVE
760
TDQNIRYGRK
770
LIEQGNEKET
780
KPIISKSMAK
790
YDFKCDRLSE
800
IPEEKEGAED
810
SKGNGIEEQE
820
VEANEENVKV
830
HGGRKEKTEI
840
LSDDLTDKAE
850
DHEFSKTEEL
860
KLEDVDEEIN
870
AENVESKKKT
880
VGDDESVPTG
890
YHSKTEGAER
900
TNDDSSAETI
910
EKKEKANLEE
920
RAICEYNENP
930
KGYMLDDADS
940
SSLEILENSE
950
TTPSKDMKKT
960
KKIFLFKRVP
970
SINQKIVKNN
980
NEPLPEIKSI
990
GDQIILKSDN
1000
KDADQNHMSQ
1010
NHQNIPPTNT
1020
ERRSKSCTIL
Gene Ontology
| Classification |
GO ID |
Description |
| Cellular Component |
GO:0036064 |
ciliary basal body |
| Cellular Component |
GO:0005930 |
axoneme |
| Cellular Component |
GO:0005813 |
centrosome |
| Cellular Component |
GO:0005929 |
cilium |
| Cellular Component |
GO:0005737 |
cytoplasm |
| Cellular Component |
GO:0005794 |
Golgi apparatus |
| Cellular Component |
GO:0032391 |
photoreceptor connecting cilium |
| Cellular Component |
GO:0001750 |
photoreceptor outer segment |
| Cellular Component |
GO:0036126 |
sperm flagellum |
| Molecular Function |
GO:0005085 |
guanyl-nucleotide exchange factor activity |
| Molecular Function |
GO:0003723 |
RNA binding |
| Molecular Function |
GO:0061630 |
ubiquitin protein ligase activity |
| Biological Process |
GO:0060271 |
cilium assembly |
| Biological Process |
GO:0042462 |
eye photoreceptor cell development |
| Biological Process |
GO:0006886 |
intracellular protein transport |
| Biological Process |
GO:0042073 |
intraciliary transport |
| Biological Process |
GO:0010508 |
positive regulation of autophagy |
| Biological Process |
GO:0097499 |
protein localization to non-motile cilium |
| Biological Process |
GO:0016567 |
protein ubiquitination |
| Biological Process |
GO:0006511 |
ubiquitin-dependent protein catabolic process |
| Biological Process |
GO:0007601 |
visual perception |
Reference
PMID: N/A