Rpgr Gene Search Result

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Genes search result for Homo sapiens
(View Results for all Objects and Ontologies)

5 records found for search term Rpgr

Refine Term:

Assembly:

Chr

Sort By:

Export

RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1352855	RPGR	retinitis pigmentosa GTPase regulator	This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer ... (more) segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]	X	38269163	38327509	Human	1154	symbol , COSMIC , description , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1321922	RPGRIP1	RPGR interacting protein 1	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]	14	21280083	21351301	Human	532	symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
16560306	AC100767.1	retinitis pigmentosa GTPase regulator (RPGR) pseudogene					Human		name	gene, processed_pseudogene
1603695	RPGRIP1L	RPGRIP1 like	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 ... (more) (MKS5). [provided by RefSeq, Jun 2016]	16	53598153	53703859	Human	693	symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16567471	AC007497.1	novel transcript, sense intronic to RPGRIP1L					Human		name	gene, lncrna