About   Help   FAQ
Rpgrip1l
Gene Detail
Symbol

Name
ID
Rpgrip1l
Rpgrip1-like
MGI:1920563
Synonyms
1700047E16Rik, fantom, Ftm, Nphp8
Feature Type
protein coding gene
Genetic Map
Chromosome 8
44.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:91217030-91313262 bp, - strand
From VEGA annotation of GRCm38

  96233 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18296  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RPGRIP1L
Gene Tree: Rpgrip1l

Human
homologs
RPGRIP1L, RPGRIP1-like
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 23322
neXtProt AC: NX_Q68CZ1

Human Synonyms: CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134

Human Chr (Location): 16q12.2; chr16:53599906-53703859 (-)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human RPGRIP1L

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.
 
Interactions
Rpgrip1l interacts with 475 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process brain development, camera-type eye development, ...
Component axoneme, bicellular tight junction, ...
Function protein binding, thromboxane A2 receptor binding
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (9)    Tissues (7)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RT-PCR 8
cDNA source data(22)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rpgrip1l    NEW 
Molecular
reagents
All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000024417 (Evidence)
Ensembl Gene Model ENSMUSG00000033282 (Evidence)
Entrez Gene 244585 (Evidence)
UniGene 324592
DFCI TC1779721, TC1605998, TC1602021, TC1620034
DoTS DT.101311610, DT.55192234, DT.87040879
NIA Mouse Gene Index U030089, U335639
Consensus CDS Project CCDS22520.1
International Mouse Phenotyping Consortium Status Rpgrip1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024417 VEGA Gene Model | MGI Sequence Detail 96233 C57BL/6J ±  kb
transcript OTTMUST00000059851 VEGA | MGI Sequence Detail 7009 Not Applicable 
polypeptide OTTMUSP00000029151 VEGA | MGI Sequence Detail 1264 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(17) UniProt(3)
Polymorphisms
SNPs within 2kb(717 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:000014183 protein fantom
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:218613 Chen J, et al., The ciliopathy gene rpgrip1l is essential for hair follicle development. J Invest Dermatol. 2015 Mar;135(3):701-9
All references(42)

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
06/23/2015
MGI 5.22
The Jackson Laboratory