Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
RPGR (human)

Overview
RPGR a guanine nucleotide exchange factor (GEF) that plays a role in cilia biogenesis and maintenance. Interacts with the GDP-bound form of the small GTPase RAB8A. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. 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 May be involved in microtubule organization and regulation of transport in primary cilia. Interacts with PDE6D, RPGRIP1, CEP290, and DFNB31. Defects in RPGR are the cause of retinitis pigmentosa (RP3, RP15, and RPDSI), cone-rod dystrophy, X-linked 1 (CORDX1), and macular degeneration, X-linked, atrophic (MDXLA). Six isoforms of the human protein are produced by alternative splicing. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments. Isoform 6 associates with microtubule organizing centers, cilium basal bodies, and cilium axonemes. Interacts with NPM1 (via C-terminus), RPGRIP1L, SMC1A and SMC3. Note: This description may include information from UniProtKB.
Protein type: GEFs; GEFs, Rab
Cellular Component: Golgi apparatus; centrosome; photoreceptor outer segment
Molecular Function: protein binding; guanyl-nucleotide exchange factor activity
Biological Process: intracellular protein transport; eye photoreceptor cell development; visual perception; response to stimulus; intraflagellar transport; cilium biogenesis
Reference #:  Q92834 (UniProtKB)
Alt. Names/Synonyms: COD1; CORDX1; CRD; orf15; PCDX; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; retinitis pigmentosa GTPase regulator; RP15; RP3; RPGR; X-linked retinitis pigmentosa GTPase regulator; XLRP3
Gene Symbols: RPGR
Molecular weight: 113,387 Da
Basal Isoelectric point: 4.79  Predict pI for various phosphorylation states
Select Structure to View Below

RPGR

Protein Structure Not Found.


STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene


Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 11 T335-p GLGLENFtNHFIPTL
0 8 Y393-p SVATFLPySSLTSGN
0 2 S418-p RRRERERsPDSFSMR
0 3 S518-p NEKSLKLsPVQKQKK
0 1 T891-p KTEGAERtNDDSSAE
0 19 Y916-p EERAICEyNENPKGY
0 7 S961-p FLFKRVPsINQKIVK
  RPGR iso7  
T335 GLGLENFTNHFIPTL
Y393 SVATFLPYSSLTSGN
S418 RRRERERSPDSFSMR
S518 NEKSLKLSPVQKQKK
- gap
- gap
- gap
  mouse

► Hide Isoforms
 
T335 GLGMENFTNQFFPTL
- gap
P417 RRRERERPPCSASMV
S518-p NEKLLDFsPIQKQQN
T870 PETEGSETIDITDEK
Y898 LQRALREYNENPKGH
- gap
  RPGR iso5  
T373 GLGMENFTNQFFPTL
- gap
P455 RRRERERPPCSASMV
S556 NEKLLDFSPIQKQQA
T615 PETEGSETIDITDEK
Y643 LQRALREYNENPKGH
- gap
Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.