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
IDBP-2613 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-2615 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-2617 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-229183 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-598046 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-601817 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-586976 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-585503 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-603555 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-593010 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-601797 retinitis pigmentosa GTPase regulator interacting protein 1
IDBP-583958 retinitis pigmentosa GTPase regulator interacting protein 1
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 [view]
Gene Ontology
Accession GO Term
Molecular Function
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
ENSMUSG00000057132 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000004694 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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