RPGR

GENE INFORMATION

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Gene name

RPGR (HGNC Symbol)

Synonyms

COD1, CORDX1, CRD, RP15, RP3

Description

retinitis pigmentosa GTPase regulator (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Dec 2008]

Chromosome

X (Chromosome progress)

Cytoband

p11.4

Chromosome location (bp)

38128416 - 38186817

Ensembl

ENSG00000156313 (version 73.37)

Entrez gene

6103

UniProt

Q92834 (UniProt - Evidence at protein level)

neXtProt

NX_Q92834

Antibodypedia

RPGR antibodies
 

PROTEIN VIEW

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RPGR-001
 
RPGR-002
 
RPGR-004
 
RPGR-006
 
RPGR-007
 
RPGR-009
 
RPGR-201
 
RPGR-202
 
RPGR-203
 
RPGR-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RPGR-001 ENSP00000322219
ENST00000318842
Q92834
Show all »
Show » Show » 815 90.2 No 0
RPGR-002 ENSP00000419276
ENST00000482855
Q92834
Show all »
Show » Show » 646 71 No 0
RPGR-004 ENSP00000417336
ENST00000494707
143 15.9 No 0
RPGR-006 ENSP00000417574
ENST00000464437
Show » 129 14.3 No 1
RPGR-007 ENSP00000418926
ENST00000474584
Q92834
Show all »
Show » Show » 480 52.6 No 0
RPGR-009 ENSP00000367766
ENST00000378505
Q92834
Show all »
Show » Show » 1152 127 No 0
RPGR-201 ENSP00000308783
ENST00000309513
Q92834
Show all »
Show » 753 83.4 No 0
RPGR-202 ENSP00000340208
ENST00000338898
Q92834
Show all »
Show » Show » 480 52.6 No 0
RPGR-203 ENSP00000343671
ENST00000339363
Q92834
Show all »
Show » Show » 1020 113.4 No 0
RPGR-204 ENSP00000339531
ENST00000342811
Q92834
Show all »
Show » Show » 646 71 No 0