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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

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:38269170-38327564 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human RPGR
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(2) Targeted(3)
Incidental mutations (data from APF )
 
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)
Interactions
Rpgr interacts with 160 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process cell projection organization, cilium assembly, ...
Component cell, cell projection, ...
Function guanyl-nucleotide exchange factor activity, poly(A) RNA 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 TypeResults
RNA in situ 88
Northern blot 12
Western blot 2
RT-PCR 3
cDNA source data(34)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(42) Genomic(4) cDNA(37) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000016902 (Evidence)
Ensembl Gene ModelENSMUSG00000031174 (Evidence)
Entrez Gene19893 (Evidence)
UniGene247556
DFCITC1577406, TC1592443, TC1620345
DoTSDT.101167179, DT.101726041, DT.526389, DT.91326536, DT.94202700, DT.97387899, DT.99848108
Consensus CDS ProjectCCDS30014.1, CCDS53000.1, CCDS53001.1, CCDS53002.1
International Mouse Knockout Project StatusRpgr
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(71) RefSeq(12) UniProt(7)
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:196243 Wright RN, et al., RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest Ophthalmol Vis Sci. 2012 Mar;53(3):1519-29
All references(49)
Disease annotation references (1)
Other
accession IDs
MGI:1277102

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory