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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 chimpanzee; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RPGR
Gene Tree: Rpgr

Human
homologs
RPGR, retinitis pigmentosa GTpase regulator
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6103
neXtProt AC: NX_Q92834

Human Synonyms: COD1, CORDX1, CRD, orf15, PCDX, RP15, RP3, XLRP3

Human Chr (Location): Xp21.1; chrX:38269170-38327564 (-)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human RPGR

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(2) Targeted(4) Transgenic(2)
Incidental mutations (data from APF , CvDC )
 
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 in Mice Using Rpgr (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(2)
Interactions
Rpgr interacts with 160 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process cell projection organization, cellular response to light stimulus, ...
Component cell, cell projection, ...
Function guanyl-nucleotide exchange factor activity, poly(A) RNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (105)    Tissues (24)    Images (27)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 88
Northern blot 12
Western blot 2
RT-PCR 3
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rpgr ; ZFIN rpgra, rpgrb    NEW 
Molecular
reagents
All nucleic(42) Genomic(4) cDNA(37) 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 TC1620345, TC1592443, TC1577406
DoTS DT.526389, DT.101726041, DT.101167179, DT.91326536, DT.97387899, DT.94202700, DT.99848108
Consensus CDS Project CCDS30014.1, CCDS53000.1, CCDS53001.1, CCDS53002.1
International Mouse Phenotyping Consortium Status Rpgr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016902 VEGA Gene Model | MGI Sequence Detail 143300 C57BL/6J ±  kb
transcript OTTMUST00000041011 VEGA | MGI Sequence Detail 3805 Not Applicable 
polypeptide OTTMUSP00000018361 VEGA | MGI Sequence Detail 1039 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(12) UniProt(9)
Polymorphisms
SNPs within 2kb(701 from dbSNP Build 137)    SNPs within 2kb including multiple locations(709)
Protein-related
information
ResourceIDDescription
InterPro IPR009091 Regulator of chromosome condensation 1/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:211665 Chaya T, et al., ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport. EMBO J. 2014 Jun 2;33(11):1227-42
All references(50)
Disease annotation references (3)
Other
accession IDs
MGI:1277102

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory