Homo sapiens Gene: RPGRIP1L
Summary
InnateDB Gene IDBG-31103.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RPGRIP1L
Gene Name RPGRIP1-like
Synonyms CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134;
Species Homo sapiens
Ensembl Gene ENSG00000103494
Encoded Proteins
RPGRIP1-like
RPGRIP1-like
RPGRIP1-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:53597683-53703938
Strand Reverse strand
Band q12.2
Transcripts
ENST00000379925 ENSP00000369257
ENST00000262135 ENSP00000262135
ENST00000562230 ENSP00000455295
ENST00000564374 ENSP00000456534
ENST00000563746 ENSP00000457889
ENST00000568009
ENST00000562588 ENSP00000459817
ENST00000568653 ENSP00000455451
ENST00000569716 ENSP00000463678
ENST00000565343
ENST00000566096 ENSP00000458705
ENST00000621565 ENSP00000480698
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 36 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0031870 thromboxane A2 receptor binding
Biological Process
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0001889 liver development
GO:0007163 establishment or maintenance of cell polarity
GO:0007368 determination of left/right symmetry
GO:0007420 brain development
GO:0008589 regulation of smoothened signaling pathway
GO:0021532 neural tube patterning
GO:0021537 telencephalon development
GO:0021549 cerebellum development
GO:0021670 lateral ventricle development
GO:0021772 olfactory bulb development
GO:0022038 corpus callosum development
GO:0035108 limb morphogenesis
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0042384 cilium assembly
GO:0043010 camera-type eye development
GO:0043584 nose development
GO:0045744 negative regulation of G-protein coupled receptor protein signaling pathway
GO:0060039 pericardium development
GO:0060271 cilium morphogenesis
GO:0060322 head development
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005911 cell-cell junction
GO:0005923 tight junction
GO:0005929 cilium
GO:0005930 axoneme
GO:0036064 ciliary basal body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by Hedgehog pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL H3BPF5 H3BS47 I3L2P2 J3QLR9
UniProt Splice Variant
Entrez Gene 23322
UniGene Hs.298382 Hs.644551 Hs.709676
RefSeq XM_005255870 NM_001127897 NM_015272 XM_005255867 XM_005255868 XM_005255869 XM_005255871
HUGO HGNC:29168
OMIM 610937
CCDS CCDS32447 CCDS45486
HPRD 17204
IMGT
EMBL AC007497 AC007909 AC084795
GenPept
RNA Seq Atlas 23322