QuickView for RPGR (gene)

Gene Symbol:

RPGR Homo sapiens

Full name:

retinitis pigmentosa GTPase regulator

Synonyms:

COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15, X-linked retinitis pigmentosa GTPase regulator, retinitis pigmentosa 15, retinitis pigmentosa 3 GTPase regulator

Genomic Location:

Chr X: 38013367-38071732

Description:

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 segment of rod photoreceptors and is essential for their viability. Mutations in this ge...

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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 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CCCAGAG_MIR326 ,  TACTTGA_MIR26A_MIR26B

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-26

Cytogenetic Map:

Xp11.4

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