Version 5.4
Homo sapiens Protein: RPGRIP1
Summary
InnateDB Protein IDBP-229183.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RPGRIP1
Protein Name retinitis pigmentosa GTPase regulator interacting protein 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000382895
InnateDB Gene IDBG-2611 (RPGRIP1)
Protein Structure
UniProt Annotation
Function Essential for RPGR function and is also required for normal disk morphogenesis. {ECO:0000250}.
Subcellular Localization Cell projection, cilium {ECO:0000250}. Note=Situated between the axonemal microtubules and the plasma membrane. {ECO:0000250}.
Disease Associations Leber congenital amaurosis 6 (LCA6) [MIM:613826]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:11528500, ECO:0000269PubMed:18682808}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cone-rod dystrophy 13 (CORD13) [MIM:608194]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:10958648, ECO:0000269PubMed:12920076}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons.
Tissue Specificity Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. {ECO:0000269PubMed:10958647, ECO:0000269PubMed:10958648, ECO:0000269PubMed:12140192}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR000008 C2 domain
IPR021656 Protein of unknown function DUF3250
PFAM PF00168
PF11618
PRINTS PR00360
PIRSF
SMART SM00239
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96KN7
PhosphoSite PhosphoSite-Q96KN7
TrEMBL
UniProt Splice Variant
Entrez Gene 57096
UniGene Hs.126035
RefSeq NP_065099
HUGO HGNC: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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca