Sequence Detail

ID/Version

Q9EPQ2 Q8CAC2 Q8CDJ9 Q9CUK6 Q9D5Q1 Q91WE0 (UniProt | EBI)

Last sequence update: 2001-03-01
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; Short=RPGR-interacting protein 1;

Provider

SWISS-PROT

Sequence

Polypeptide 1331 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Rpgrip1	retinitis pigmentosa GTPase regulator interacting protein 1	19	101	2	53

Sequence references in MGI

J:68848 Hong DH, et al., Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem. 2001 Apr 13;276(15):12091-9
J:82755 Zhao Y, et al., The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):3965-70
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:216279 Eblimit A, et al., Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015 Mar 15;24(6):1584-601
J:264617 Dharmat R, et al., SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 Aug 6;217(8):2851-2865
J:279827 Eblimit A, et al., Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Exp Eye Res. 2018 Jan;166:120-130