• Gene id: 6103

Gene Summary

• Gene Symbol: RPGR   Gene   UCSC   Ensembl
• Aliases: COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
• Gene name: retinitis pigmentosa GTPase regulator
• Alternate names: X-linked retinitis pigmentosa GTPase regulator, retinitis pigmentosa 15, retinitis pigmentosa 3 GTPase regulator,
• Gene location: Xp11.4 (38327508: 38269162)     Exons: 25     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 312610

Protein Summary

• Protein general information: Q92834  
  • Name: X linked retinitis pigmentosa GTPase regulator
  • Length: 1020  
  • Mass: 113387
  • Tissue specificity: Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segme
• Sequence:

  MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAI
  SKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSN
  TSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLP
  NQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYI
  SCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEI
  EFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRC
  SERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKK
  QQTIGELTQDTALTENDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGE
  GLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNL
  PDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVE
  TDQNIRYGRKLIEQGNEKETKPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRK
  EKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETI
  EKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLP
  EIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL

• Structural information:
  • Interpro: IPR009091  IPR000408  
  • Prosite: PS00626 PS50012
  • PDB: 4JHN 4JHP 4QAM
  • PDBsum: 4JHN 4JHP 4QAM
  • STRING: ENSP00000367766
• Other Databases: GeneCards:  RPGR  Malacards:  RPGR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006886	intracellular protein transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0036126	sperm flagellum	ISS	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0042073	intraciliary transport	ISS	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0007601	visual perception	IMP	biological process
GO:0005794	Golgi apparatus	ISS	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Retinitis pigmentosa	KEGG:H00527
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
retinitis pigmentosa 3	PMID:9855162
X-linked cone-rod dystrophy 1	PMID:11875055
Retinitis pigmentosa	PMID:10937588
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq