UniProt ID | RPGR_HUMAN | |
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UniProt AC | Q92834 | |
Protein Name | X-linked retinitis pigmentosa GTPase regulator | |
Gene Name | RPGR | |
Organism | Homo sapiens (Human). | |
Sequence Length | 1020 | |
Subcellular Localization |
Cytoplasm, cytoskeleton, flagellum axoneme . Golgi apparatus . Isoform 6: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. |
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Protein Description | Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.. | |
Protein Sequence | MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL | |
Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
---|---|---|---|---|---|
143 | Ubiquitination | FTSEHKIKQLSAGSN ECCHHHEEEECCCCC | 50.41 | 29967540 | |
335 | Phosphorylation | GLGLENFTNHFIPTL CCCCCCCCCCCHHHH | 39.09 | - | |
393 | Phosphorylation | SVATFLPYSSLTSGN HHHHHCCHHHCCCCC | 17.03 | - | |
418 | Phosphorylation | RRRERERSPDSFSMR HHHHHHHCCCCCCCC | 28.45 | 30266825 | |
418 (in isoform 6) | Phosphorylation | - | 28.45 | 27251275 | |
421 | Phosphorylation | ERERSPDSFSMRRTL HHHHCCCCCCCCCCC | 23.70 | 30266825 | |
423 | Phosphorylation | ERSPDSFSMRRTLPP HHCCCCCCCCCCCCC | 18.48 | 30266825 | |
512 (in isoform 4) | Phosphorylation | - | 43.79 | 29523821 | |
513 (in isoform 4) | Phosphorylation | - | 66.40 | 29523821 | |
514 | Phosphorylation | SLNSNEKSLKLSPVQ ECCCCCCCCCCCHHH | 25.26 | 30266825 | |
518 (in isoform 6) | Phosphorylation | - | 22.80 | 27251275 | |
518 (in isoform 4) | Phosphorylation | - | 22.80 | 29523821 | |
518 | Phosphorylation | NEKSLKLSPVQKQKK CCCCCCCCHHHHHHH | 22.80 | 25159151 | |
518 (in isoform 2) | Phosphorylation | - | 22.80 | 24719451 | |
539 (in isoform 6) | Phosphorylation | - | 30.22 | 27251275 | |
539 | Phosphorylation | LTQDTALTENDDSDE HHHCCCCCCCCCCHH | 30.22 | 27251275 | |
544 | Phosphorylation | ALTENDDSDEYEEMS CCCCCCCCHHHHHHH | 34.89 | 26471730 | |
547 | Phosphorylation | ENDDSDEYEEMSEMK CCCCCHHHHHHHHHH | 23.37 | 27642862 | |
574 (in isoform 3) | Phosphorylation | - | 34.68 | 29523821 | |
574 (in isoform 2) | Phosphorylation | - | 34.68 | 29523821 | |
574 (in isoform 6) | Phosphorylation | - | 34.68 | 29523821 | |
575 (in isoform 6) | Phosphorylation | - | 20.94 | 29523821 | |
575 (in isoform 3) | Phosphorylation | - | 20.94 | 29523821 | |
575 (in isoform 2) | Phosphorylation | - | 20.94 | 29523821 | |
580 (in isoform 3) | Phosphorylation | - | 51.68 | 29523821 | |
580 (in isoform 2) | Phosphorylation | - | 51.68 | 29523821 | |
580 (in isoform 6) | Phosphorylation | - | 51.68 | 29523821 | |
585 | Ubiquitination | AFSDEEVGNDTGQVG ECCCCCCCCCCCCCC | 29.58 | 24816145 | |
586 | Ubiquitination | FSDEEVGNDTGQVGP CCCCCCCCCCCCCCC | 49.17 | 24816145 | |
636 | Phosphorylation | GGHSQKESEAEEIDS CCCCHHHHHHHHCCC | 49.49 | 27135362 | |
643 | Phosphorylation | SEAEEIDSEKETKLA HHHHHCCCHHHHHHH | 57.12 | 27135362 | |
682 | Phosphorylation | LPDRGMNTESEENKD CCCCCCCCCCHHHHH | 31.81 | 30576142 | |
684 | Phosphorylation | DRGMNTESEENKDFV CCCCCCCCHHHHHHH | 48.44 | 30576142 | |
696 | Ubiquitination | DFVKKRESCKQDVIF HHHHHHHHHCCCEEC | 30.55 | 24816145 | |
697 | Ubiquitination | FVKKRESCKQDVIFD HHHHHHHHCCCEECC | 3.83 | 24816145 | |
756 (in isoform 2) | Phosphorylation | - | 35.09 | 24719451 | |
801 (in isoform 6) | Phosphorylation | - | 33.69 | 23879269 | |
828 | Phosphorylation | HGGRKEKTEILSDDL ECCHHHCEEECCCCC | 29.38 | 22985185 | |
866 | Phosphorylation | INAENVESKKKTVGD HCHHHHHCCCCCCCC | 45.55 | 25332170 | |
870 | Phosphorylation | NVESKKKTVGDDESV HHHCCCCCCCCCCCC | 38.30 | 23312004 | |
876 | Phosphorylation | KTVGDDESVPTGYHS CCCCCCCCCCCCCCC | 40.15 | 23312004 | |
879 | Phosphorylation | GDDESVPTGYHSKTE CCCCCCCCCCCCCCC | 48.49 | 23312004 | |
881 | Phosphorylation | DESVPTGYHSKTEGA CCCCCCCCCCCCCCC | 12.85 | 23312004 | |
883 | Phosphorylation | SVPTGYHSKTEGAER CCCCCCCCCCCCCCC | 32.56 | 23312004 | |
885 | Phosphorylation | PTGYHSKTEGAERTN CCCCCCCCCCCCCCC | 42.54 | 23312004 | |
891 | Phosphorylation | KTEGAERTNDDSSAE CCCCCCCCCCCCCHH | 34.21 | 19664994 | |
901 | Ubiquitination | DSSAETIEKKEKANL CCCHHHHHHHHHCCH | 66.55 | 24816145 | |
902 | Ubiquitination | SSAETIEKKEKANLE CCHHHHHHHHHCCHH | 63.48 | 24816145 | |
916 | Phosphorylation | EERAICEYNENPKGY HHHHHEECCCCCCCE | 24.30 | 28796482 | |
931 | Phosphorylation | MLDDADSSSLEILEN ECCCCCCCCCHHHHC | 39.22 | 30576142 | |
932 | Phosphorylation | LDDADSSSLEILENS CCCCCCCCCHHHHCC | 33.69 | 30576142 | |
942 | Phosphorylation | ILENSETTPSKDMKK HHHCCCCCCCCCCHH | 22.86 | 30576142 | |
961 | Phosphorylation | FLFKRVPSINQKIVK EEEEECCCCCHHHHH | 31.17 | 23401153 | |
979 | Phosphorylation | EPLPEIKSIGDQIIL CCCHHHCCCCCEEEE | 37.15 | 27966365 | |
1017 | Methylation | TERRSKSCTIL---- CHHHCCCCCCC---- | 2.93 | - | |
1017 | Geranylgeranylation | TERRSKSCTIL---- CHHHCCCCCCC---- | 2.93 | - | |
1101 (in isoform 6) | Ubiquitination | - | - | ||
1106 (in isoform 6) | Ubiquitination | - | - |
Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
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Oops, there are no upstream regulatory protein records of RPGR_HUMAN !! |
Modified Location | Modified Residue | Modification | Function | Reference | ||
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Oops, there are no descriptions of PTM sites of RPGR_HUMAN !! |
* Distance = the distance between SAP position and PTM sites.
Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
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Oops, there are no SNP-PTM records of RPGR_HUMAN !! |
Kegg Disease | ||||||
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There are no disease associations of PTM sites. | ||||||
OMIM Disease | ||||||
300029 | Retinitis pigmentosa 3 (RP3) | |||||
300455 | Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI) | |||||
304020 | Cone-rod dystrophy, X-linked 1 (CORDX1) | |||||
300834 | Macular degeneration, X-linked, atrophic (MDXLA) | |||||
Kegg Drug | ||||||
There are no disease associations of PTM sites. | ||||||
DrugBank | ||||||
There are no disease associations of PTM sites. |
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Phosphorylation | |
Reference | PubMed |
"Lys-N and trypsin cover complementary parts of the phosphoproteome ina refined SCX-based approach."; Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,Mohammed S.; Anal. Chem. 81:4493-4501(2009). Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, AND MASSSPECTROMETRY. |