InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-31105

RPGRIP1-like

IDBP-31107

RPGRIP1-like

IDBP-751320

IDBP-747471

IDBP-752337

IDBP-748428

IDBP-754419

IDBP-752131

IDBP-749255

IDBP-807875

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

ENSMUSG00000033282

View Gene Order

ENSBTAG00000012499

Not yet available

Pathways

NETPATH

REACTOME

REACT_228134

Signaling by Hedgehog pathway

REACT_111102

Signal Transduction pathway

REACT_267634

Hedgehog 'off' state pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.298382 Hs.644551 Hs.709676

RefSeq

NM_001127897 NM_015272 XM_005255867 XM_005255868 XM_005255869 XM_005255870 XM_005255871

HUGO

OMIM

CCDS

CCDS32447 CCDS45486

HPRD

17204

IMGT

EMBL

GenPept

RNA Seq Atlas