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RPGR

GENERAL INFORMATION

Gene name

 RPGR

Gene description

 Retinitis pigmentosa GTPase regulator

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic and membranous expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA001593
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

Cytoband

 p11.4

Chromosome location (bp)

 38269163 - 38327564

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000156313 (version 83.38)

Entrez gene

 6103

UniProt

 Q92834 (UniProt - Evidence at protein level)

neXtProt

 NX_Q92834

Antibodypedia

 RPGR antibodies

PROTEIN BROWSER
RPGR-001
RPGR-004
RPGR-006
RPGR-009
RPGR-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RPGR-001
ENSP00000322219
ENST00000318842
Q92834 [Direct mapping]
X-linked retinitis pigmentosa GTPase regulator
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0006886 [intracellular protein transport]
GO:0007601 [visual perception]
GO:0036064 [ciliary basal body]
GO:0036126 [sperm flagellum]
GO:0042073 [intraciliary transport]
GO:0042384 [cilium assembly]
GO:0043547 [positive regulation of GTPase activity]
GO:0044822 [poly(A) RNA binding]
Show all
 815 aa
90.2 kDa 		No 0
RPGR-004
ENSP00000417336
ENST00000494707
H7C4H4 [Direct mapping]
X-linked retinitis pigmentosa GTPase regulator
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
 143 aa
15.9 kDa 		No 0
RPGR-006
ENSP00000417574
ENST00000464437
H7C4L1 [Direct mapping]
X-linked retinitis pigmentosa GTPase regulator
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
 129 aa
14.3 kDa 		No 1
RPGR-009
ENSP00000367766
ENST00000378505
Q92834 [Direct mapping]
X-linked retinitis pigmentosa GTPase regulator
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0005929 [cilium]
GO:0006886 [intracellular protein transport]
GO:0007601 [visual perception]
GO:0032391 [photoreceptor connecting cilium]
GO:0036064 [ciliary basal body]
GO:0036126 [sperm flagellum]
GO:0042073 [intraciliary transport]
GO:0042384 [cilium assembly]
GO:0042462 [eye photoreceptor cell development]
GO:0042995 [cell projection]
GO:0043547 [positive regulation of GTPase activity]
GO:0044822 [poly(A) RNA binding]
GO:0060042 [retina morphogenesis in camera-type eye]
GO:0071482 [cellular response to light stimulus]
GO:0072372 [primary cilium]
Show all
 1152 aa
127 kDa 		No 0
RPGR-201
ENSP00000343671
ENST00000339363
Q92834 [Direct mapping]
X-linked retinitis pigmentosa GTPase regulator
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0006886 [intracellular protein transport]
GO:0007601 [visual perception]
GO:0036064 [ciliary basal body]
GO:0036126 [sperm flagellum]
GO:0042073 [intraciliary transport]
GO:0042384 [cilium assembly]
GO:0043547 [positive regulation of GTPase activity]
GO:0044822 [poly(A) RNA binding]
Show all
 1020 aa
113.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.