Homo sapiens Gene: RPGRIP1
Summary
InnateDB Gene IDBG-2611.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol RPGRIP1
Gene Name retinitis pigmentosa GTPase regulator interacting protein 1
Synonyms CORD13; LCA6; RGI1; RGRIP; RPGRIP; RPGRIP1d;
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
retinitis pigmentosa GTPase regulator interacting protein 1
retinitis pigmentosa GTPase regulator interacting protein 1
Protein Structure
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 14:21756098-21819460
Strand Forward strand
Band q11.2
Transcripts
ENST00000206660 ENSP00000206660
ENST00000382933 ENSP00000372391
ENST00000307974 ENSP00000309721
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
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
Cross-References
SwissProt Q96KN7
TrEMBL G3V236 G3V3F7 G3V3I7 G3V577 G8JL87 H0YIY1 H0YJ99
UniProt Splice Variant
Entrez Gene 57096
UniGene Hs.126035
RefSeq NM_020366
HUGO 13436
OMIM 605446
CCDS CCDS45080
HPRD 05673
IMGT
EMBL AF227257 AF260257 AF265666 AF265667 AJ417048 AJ417049 AJ417050 AJ417051 AJ417052 AJ417053 AJ417054 AJ417055 AJ417056 AJ417057 AJ417058 AJ417059 AJ417060 AJ417061 AJ417062 AJ417063 AJ417064 AJ417065 AJ417066 AJ417067 AL135744 BC039089 BX571740
GenPept AAF91371 AAG10000 AAG10001 AAG10246 AAH39089 CAD01135 CAD01136 CAE11866
ImmGen RPGRIP1 (murine)
RNA Seq Atlas 57096