Mus musculus Gene: Rpgr
Summary
InnateDB Gene IDBG-131424.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Rpgr
Gene Name retinitis pigmentosa GTPase regulator
Synonyms Rp3h;
Species Mus musculus
Ensembl Gene ENSMUSG00000031174
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
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000156313:
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:10073621-10216920
Strand Reverse strand
Band A1.1
Transcripts
ENSMUST00000072393 ENSMUSP00000072229
ENSMUST00000073392 ENSMUSP00000073106
ENSMUST00000044598 ENSMUSP00000037358
ENSMUST00000115534 ENSMUSP00000111196
ENSMUST00000115533 ENSMUSP00000111195
ENSMUST00000115532 ENSMUSP00000111194
ENSMUST00000155734
ENSMUST00000124744
ENSMUST00000143532
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [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:0007601 visual perception
GO:0042073 intraciliary transport
GO:0042384 cilium assembly
GO:0042462 eye photoreceptor cell development
GO:0043087 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
Homo sapiens
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt
TrEMBL Q8CDM3
UniProt Splice Variant
Entrez Gene 19893
UniGene Mm.393085
RefSeq NM_001177951 NM_001177952 NM_001177950 NM_011285
OMIM
CCDS CCDS53002 CCDS53000 CCDS53001 CCDS30014
HPRD
IMGT
MGI ID MGI:1344037
MGI Symbol Rpgr
EMBL AK029864 AL671042 BX005236
GenPept BAC26649
RNA Seq Atlas 19893