About   Help   FAQ
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

HCOP human homology predictions: RPGRIP1
Gene Tree: Rpgrip1

Human
homologs
RPGRIP1, retinitis pigmentosa GTPase regulator interacting protein 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 57096
neXtProt AC: NX_Q96KN7

Human Synonyms: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d

Human Chr (Location): 14q11; chr14:21287962-21351301 (+)  GRCh38.p2

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 in Mice Using Rpgrip1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Rpgrip1 interacts with 226 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process eye photoreceptor cell development, neural precursor cell proliferation, ...
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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rpgrip1    NEW 
Molecular
reagents
All nucleic(17) cDNA(17)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000042894 (Evidence)
Ensembl Gene Model ENSMUSG00000057132 (Evidence)
Entrez Gene 77945 (Evidence)
Consensus CDS Project CCDS36918.1, CCDS49490.1
International Mouse Phenotyping Consortium Status Rpgrip1
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(102) RefSeq(14) UniProt(12)
Polymorphisms
SNPs within 2kb(557 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 domain
InterPro IPR031134 Retinitis pigmentosa GTPase regulator-interacting protein 1
InterPro IPR021656 RPGR-interacting protein 1, first C2 domain
InterPro IPR031139 RPGRIP1 family
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:216279 Eblimit A, et al., Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2014 Nov 14;
All references(43)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory