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Rpgrip1
Gene Detail
Symbol

Name
ID
Rpgrip1
retinitis pigmentosa GTPase regulator interacting protein 1
MGI:1932134
Synonyms
4930401L23Rik, 4930505G06Rik, A930002K18Rik, nmf247
Feature Type
protein coding gene
Genetic Map
Chromosome 14
26.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr14:52110704-52163546 bp, + strand
From VEGA annotation of GRCm38

  52843 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10679  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

Gene Tree: Rpgrip1

Human
homologs
Human Homolog RPGRIP1, retinitis pigmentosa GTPase regulator interacting protein 1
NCBI Gene ID 57096
neXtProt AC  NX_Q96KN7
Human Synonyms  CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
Human Chr (Location)  14q11; chr14:21287977-21351301 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human RPGRIP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(55) : Chemically induced (ENU)(1) Gene trapped(53) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.
 
Human Diseases Modeled Using Mouse Rpgrip1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Rpgrip1 interacts with 227 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process eye photoreceptor cell development, response to stimulus, ...
Component axoneme, cell projection, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (22)    Tissues (16)    Images (12)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 22
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(17) cDNA(17)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000042894 (Evidence)
Ensembl Gene ModelENSMUSG00000057132 (Evidence)
Entrez Gene77945 (Evidence)
Consensus CDS ProjectCCDS36918.1, CCDS49490.1
International Mouse Knockout Project StatusRpgrip1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000042894 VEGA Gene Model | MGI Sequence Detail 52843 C57BL/6J ±  kb
transcript OTTMUST00000112682 VEGA | MGI Sequence Detail 5380 Not Applicable 
polypeptide OTTMUSP00000063152 VEGA | MGI Sequence Detail 1331 Not Applicable 

For the selected sequences
All sequences(108) RefSeq(20) UniProt(12)
Polymorphisms
SNPs within 2kb(557 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR021656 Protein of unknown function DUF3250
Protein Ontology PR:000014182 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(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(42)
Disease annotation references (1)
Other
accession IDs
MGI:1921176, MGI:1922291, MGI:1925195, MGI:2145556, MGI:3511346

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory