Homo sapiens Gene: RPGR
Summary
InnateDB Gene IDBG-56218.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RPGR
Gene Name retinitis pigmentosa GTPase regulator
Synonyms COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3;
Species Homo sapiens
Ensembl Gene ENSG00000156313
Encoded Proteins
retinitis pigmentosa GTPase regulator
retinitis pigmentosa GTPase regulator
retinitis pigmentosa GTPase regulator
retinitis pigmentosa GTPase regulator
retinitis pigmentosa GTPase regulator
retinitis pigmentosa GTPase regulator
retinitis pigmentosa GTPase regulator
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:38269163-38327564
Strand Reverse strand
Band p11.4
Transcripts
ENST00000339363 ENSP00000343671
ENST00000318842 ENSP00000322219
ENST00000378505 ENSP00000367766
ENST00000476559
ENST00000482855 ENSP00000419276
ENST00000474584 ENSP00000418926
ENST00000494707 ENSP00000417336
ENST00000494841
ENST00000464437 ENSP00000417574
ENST00000470183
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006886 intracellular protein transport
GO:0007601 visual perception
GO:0042073 intraciliary transport
GO:0042384 cilium assembly
GO:0042462 eye photoreceptor cell development
GO:0043547 positive regulation of GTPase activity
GO:0050896 response to stimulus
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005929 cilium
GO:0036064 ciliary basal body
GO:0036126 sperm flagellum
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt Q92834
TrEMBL
UniProt Splice Variant
Entrez Gene 6103
UniGene Hs.61438
RefSeq NM_000328 NM_001034853 XM_006724538
HUGO HGNC:10295
OMIM 312610
CCDS CCDS14246 CCDS35229
HPRD 02425
IMGT
EMBL AF286471 AJ238395 AJ318463 AL606748 BC031624 BK005711 CH471141 U57629 X97668
GenPept AAC50481 AAG00550 AAH31624 CAA66258 CAB54002 CAC86116 CAI95407 DAA05713 EAW59441
RNA Seq Atlas 6103