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Gene: RPGR (retinitis pigmentosa GTPase regulator) Homo sapiens
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Symbol: RPGR
Name: retinitis pigmentosa GTPase regulator
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: COD1; CORDX1; CRD; orf15; PCDX; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; RP15; RP3; X-linked retinitis pigmentosa GTPase regulator; XLRP3
Orthologs:
Mus musculus (house mouse) : Rpgr (retinitis pigmentosa GTPase regulator)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rpgr (retinitis pigmentosa GTPase regulator)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rpgr (retinitis pigmentosa GTPase regulator)
Pan paniscus (bonobo/pygmy chimpanzee) : RPGR (retinitis pigmentosa GTPase regulator)
Canis lupus familiaris (dog) : RPGR (retinitis pigmentosa GTPase regulator)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rpgr (retinitis pigmentosa GTPase regulator)
Sus scrofa (pig) : RPGR (retinitis pigmentosa GTPase regulator)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X38,269,163 - 38,327,542 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,128,423 - 38,186,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,013,367 - 38,071,732 (-)NCBINCBI36hg18NCBI36
Build 34X37,884,818 - 37,942,896NCBI
CeleraX42,266,066 - 42,324,437 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,873,257 - 35,932,248 (-)NCBIHuRef
CHM1_1X38,159,472 - 38,217,832 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on RPGR
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1352855
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.