Rpgr
Gene Detail

Symbol Name ID

Rpgr retinitis pigmentosa GTPase regulator MGI:1344037

Synonyms

Rp3h

Feature Type

protein coding gene

Genetic Map

Chromosome X

4.62 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

ChrX:10073621-10216920 bp, - strand From VEGA annotation of GRCm38   143300 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55455  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Rpgr

Human homologs

Human Homolog		RPGR, retinitis pigmentosa GTpase regulator
NCBI Gene ID		6103
neXtProt AC		NX_Q92834
Human Synonyms		COD1, CORDX1, CRD, orf15, PCDX, RP15, RP3, XLRP3
Human Chr (Location)		Xp21.1; chrX:38128423-38186788 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human RPGR

Alleles and phenotypes

All alleles(4) : Targeted(2) Gene trapped(2)
 

Homo- and hemizygotes for an X-linked, targeted, null mutation exhibit ectopic placement of cone opsins, reduced levels of rhodopsin in rod cells, and partial degeneration of both cone and rod photoreceptors by 2-6 months of age.

 
Human Diseases Modeled Using Mouse Rpgr (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	cell projection organization, cilium assembly, ...
Component	cell projection, centrosome, ...
Function	guanyl-nucleotide exchange factor activity, protein binding

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (105)    Tissues (24)    Images (27)
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
RNA in situ	88
Northern blot	12
Western blot	2
RT-PCR	3

cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(43) Genomic(4) cDNA(38) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000016902 (Evidence)
Ensembl Gene Model	ENSMUSG00000031174 (Evidence)
Entrez Gene	19893 (Evidence)
UniGene	247556
DFCI	TC1577406, TC1592443, TC1620345
DoTS	DT.101167179, DT.101726041, DT.526389, DT.91326536, DT.94202700, DT.97387899, DT.99848108
Consensus CDS Project	CCDS30014.1, CCDS53000.1, CCDS53001.1, CCDS53002.1
International Mouse Knockout Project Status	Rpgr

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016902	VEGA Gene Model | MGI Sequence Detail	143300	C57BL/6J
transcript	OTTMUST00000041011	VEGA | MGI Sequence Detail	3805	Not Applicable
polypeptide	OTTMUSP00000018361	VEGA | MGI Sequence Detail	1039	Not Applicable

All sequences(72) RefSeq(12) UniProt(8)

Polymorphisms

SNPs(246 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009091	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II
InterPro	IPR000408	Regulator of chromosome condensation, RCC1
Protein Ontology	PR:000014181	X-linked retinitis pigmentosa GTPase regulator

References

(Earliest) J:48951 Yan D, et al., Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem. 1998 Jul 31;273(31):19656-63
(Latest) J:181417 Wright RN, et al., Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2011 Jul;52(8):5189-201
All references(42)

Other accession IDs

MGI:1277102