Homo sapiens Gene: RPGRIP1
Summary
InnateDB Gene IDBG-2611.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RPGRIP1
Gene Name retinitis pigmentosa GTPase regulator interacting protein 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000092200
Encoded Proteins
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:21287939-21351301
Strand Forward strand
Band q11.2
Transcripts
ENST00000382933 ENSP00000372391
ENST00000400017 ENSP00000382895
ENST00000556336 ENSP00000450445
ENST00000557771 ENSP00000451219
ENST00000554750
ENST00000557351 ENSP00000452215
ENST00000553500
ENST00000555322 ENSP00000450662
ENST00000555587 ENSP00000451262
ENST00000554303 ENSP00000450426
ENST00000555489 ENSP00000451044
ENST00000553927
ENST00000557606 ENSP00000451719
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007601 visual perception
GO:0042462 eye photoreceptor cell development
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0005929 cilium
GO:0005930 axoneme
GO:0031513 nonmotile primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.126035
RefSeq NM_020366 XM_005267879 XM_005267880 XM_005267881 XM_006720208 XM_006720209 XM_006720210
HUGO
OMIM
CCDS CCDS45080
HPRD 05673
IMGT
EMBL
GenPept
RNA Seq Atlas