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

Chr14:52110903-52161307 bp, + strand From Ensembl annotation of GRCm38   50405 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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

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; chr14:21756136-21819460 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human RPGRIP1

Alleles and phenotypes

All alleles(54) : Targeted(1) Gene trapped(52) Chemically induced(1)
 

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)

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)
Theiler Stages: 20, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	22

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(17) cDNA(17)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000057132 (Evidence)
Entrez Gene	77945 (Evidence)
Consensus CDS Project	CCDS36918.1, CCDS49490.1
International Mouse Knockout Project Status	Rpgrip1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000057132	Ensembl Gene Model | MGI Sequence Detail	50405	C57BL/6J
transcript	ENSMUST00000111603	Ensembl | MGI Sequence Detail	5181	Not Applicable
polypeptide	ENSMUSP00000107230	Ensembl | MGI Sequence Detail	1331	Not Applicable

All sequences(37) RefSeq(4) UniProt(13)

Polymorphisms

SNPs(297 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000008	C2 calcium-dependent membrane targeting
InterPro	IPR008973	C2 calcium/lipid-binding domain, CaLB
InterPro	IPR018029	C2 membrane targeting protein
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:175792 Jelcick AS, et al., Genetic variations strongly influence phenotypic outcome in the mouse retina. PLoS One. 2011;6(7):e21858
All references(40)

Other accession IDs

MGI:1921176, MGI:1922291, MGI:1925195, MGI:2145556, MGI:3511346