Rpgr (retinitis pigmentosa GTPase regulator) - Rat Genome Database

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Gene: Rpgr (retinitis pigmentosa GTPase regulator) Mus musculus
Analyze
Symbol: Rpgr
Name: retinitis pigmentosa GTPase regulator
RGD ID: 1557212
MGI Page MGI
Description: Predicted to enable ubiquitin protein ligase activity. Involved in intraciliary transport. Acts upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in several cellular components, including ciliary basal body; photoreceptor distal connecting cilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; liver; nervous system; sensory organ; and spleen. Used to study X-linked cone-rod dystrophy 1 and retinitis pigmentosa 3. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: mRpgr; Rd; Rd9; Rp; Rp3h; X-linked retinitis pigmentosa GTPase regulator
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X10,024,455 - 10,083,034 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX9,939,860 - 10,083,159 (-)EnsemblGRCm39 Ensembl
GRCm38X10,158,216 - 10,216,795 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX10,073,621 - 10,216,920 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X9,735,342 - 9,793,921 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X9,315,178 - 9,373,672 (-)NCBIMGSCv36mm8
CeleraX7,863,918 - 7,924,303 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX4.62NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Bader I, etal., Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.
2. Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Brunner S, etal., Biol Reprod. 2008 Oct;79(4):608-17. doi: 10.1095/biolreprod.107.067454. Epub 2008 Jun 25.
3. Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Brunner S, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.
4. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Chang W, etal., Mol Vis. 2007 Aug 30;13:1548-54.
5. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
6. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Demirci FY, etal., Am J Hum Genet. 2002 Apr;70(4):1049-53. Epub 2002 Feb 20.
7. Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). Dry KL, etal., Hum Mutat. 1999;13(2):141-5.
8. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Fishman GA, etal., Ophthalmology. 1998 Dec;105(12):2286-96.
9. A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Hong DH, etal., Invest Ophthalmol Vis Sci. 2005 Feb;46(2):435-41.
10. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Hong DH, etal., Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54.
11. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Jacobson SG, etal., Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.
12. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. Ji Y, etal., Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.
13. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
14. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa. Liu L, etal., Chin Med J (Engl). 2002 Jun;115(6):833-6.
15. MGDs mouse GO annotations MGD data from the GO Consortium
16. MGD IEA MGD IEA
17. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. Moore A, etal., J Med Genet. 2006 Apr;43(4):326-33. Epub 2005 Jul 31.
18. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Pawlyk BS, etal., Hum Gene Ther. 2010 Aug;21(8):993-1004. doi: 10.1089/hum.2009.218.
21. Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. Rebello G, etal., Clin Genet. 2003 Aug;64(2):137-41.
22. Mouse MP Annotation Import Pipeline RGD automated import pipeline
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Sharon D, etal., Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.
26. The human retinitis pigmentosa GTPase regulator gene variant database. Shu X, etal., Hum Mutat. 2008 May;29(5):605-8. doi: 10.1002/humu.20733.
27. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. Thompson DA, etal., PLoS One. 2012;7(5):e35865. doi: 10.1371/journal.pone.0035865. Epub 2012 May 1.
28. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Vervoort R and Wright AF, Hum Mutat. 2002 May;19(5):486-500.
29. Mutations in the RPGR gene cause X-linked cone dystrophy. Yang Z, etal., Hum Mol Genet. 2002 Mar 1;11(5):605-11.
Additional References at PubMed
PMID:9677393   PMID:9990021   PMID:10349636   PMID:10401007   PMID:10699176   PMID:10932196   PMID:11042159   PMID:11076861   PMID:11104772   PMID:11702207   PMID:11853768   PMID:12140192  
PMID:12477932   PMID:12651948   PMID:12904583   PMID:14691151   PMID:15723066   PMID:15741177   PMID:15772089   PMID:16043481   PMID:16141072   PMID:16141073   PMID:16332269   PMID:16632484  
PMID:17350580   PMID:17967808   PMID:18425126   PMID:19430481   PMID:20664800   PMID:20805823   PMID:20926819   PMID:21052544   PMID:21148103   PMID:21212183   PMID:21267068   PMID:21546531  
PMID:21873635   PMID:22323458   PMID:22807293   PMID:24797473   PMID:25877300   PMID:26068394   PMID:26908598   PMID:26936822   PMID:26941104   PMID:27162334   PMID:27798110   PMID:28172980  
PMID:28814713   PMID:29899041   PMID:30213530   PMID:30924157   PMID:31247114   PMID:31607844   PMID:32290105   PMID:35737378   PMID:37181654   PMID:37196079   PMID:38536817  


Genomics

Comparative Map Data
Rpgr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X10,024,455 - 10,083,034 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX9,939,860 - 10,083,159 (-)EnsemblGRCm39 Ensembl
GRCm38X10,158,216 - 10,216,795 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX10,073,621 - 10,216,920 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X9,735,342 - 9,793,921 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X9,315,178 - 9,373,672 (-)NCBIMGSCv36mm8
CeleraX7,863,918 - 7,924,303 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX4.62NCBI
RPGR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X38,269,163 - 38,327,509 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX38,269,163 - 38,327,544 (-)EnsemblGRCh38hg38GRCh38
GRCh37X38,128,416 - 38,186,762 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,013,367 - 38,071,732 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X37,884,818 - 37,942,896NCBI
CeleraX42,266,066 - 42,324,437 (-)NCBICelera
Cytogenetic MapXp11.4NCBI
HuRefX35,873,257 - 35,932,248 (-)NCBIHuRef
CHM1_1X38,159,472 - 38,217,832 (-)NCBICHM1_1
T2T-CHM13v2.0X37,672,761 - 37,731,102 (-)NCBIT2T-CHM13v2.0
Rpgr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X15,238,961 - 15,299,004 (+)NCBIGRCr8
mRatBN7.2X12,566,447 - 12,628,171 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX12,566,645 - 12,747,882 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX12,751,149 - 12,818,019 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X16,248,089 - 16,314,960 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X12,504,656 - 12,571,528 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X14,271,012 - 14,331,745 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX14,271,017 - 14,331,486 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X15,053,729 - 15,077,792 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X15,092,648 - 15,113,954 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X24,722,378 - 24,782,679 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX13,178,490 - 13,236,459 (+)NCBICelera
Cytogenetic MapXq12NCBI
Rpgr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955601398,772 - 453,271 (-)NCBIChiLan1.0ChiLan1.0
RPGR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X39,910,004 - 39,976,124 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X39,920,272 - 39,979,505 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X30,718,669 - 30,777,671 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X38,426,895 - 38,485,140 (-)NCBIpanpan1.1PanPan1.1panPan2
RPGR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X33,056,371 - 33,105,036 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX32,745,020 - 33,330,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX20,405,036 - 20,453,690 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X33,082,215 - 33,156,658 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX32,954,294 - 33,380,900 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X33,184,774 - 33,233,420 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X33,156,625 - 33,205,531 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X33,198,692 - 33,247,323 (-)NCBIUU_Cfam_GSD_1.0
Rpgr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X25,322,460 - 25,372,387 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365025,163,164 - 5,212,940 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPGR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX34,228,124 - 34,296,589 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X34,238,961 - 34,522,814 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RPGR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1930,008,681 - 30,033,475 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666076599,245 - 642,706 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rpgr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476217,135,870 - 17,199,693 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Rpgr
1553 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:839
Count of miRNA genes:441
Interacting mature miRNAs:487
Transcripts:ENSMUST00000044598, ENSMUST00000072393, ENSMUST00000073392, ENSMUST00000115532, ENSMUST00000115533, ENSMUST00000115534, ENSMUST00000124744, ENSMUST00000143532, ENSMUST00000155734
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1302195Pbwg10_mpostnatal body weight growth 10 (mouse)Not determinedX126202173Mouse
1357433Dbts2_mdiabetes 2 (mouse)Not determinedX7226295150107038Mouse

Markers in Region
Avpr1b  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10D1UniSTS
Cytogenetic Map13D1UniSTS
Cytogenetic Map18D3UniSTS
Cytogenetic MapXF1UniSTS
Cytogenetic Map7CUniSTS
Cytogenetic Map13B2UniSTS
Cytogenetic Map4D1UniSTS
Cytogenetic Map10A1UniSTS
Cytogenetic Map4C7UniSTS
Cytogenetic Map13C1UniSTS
Cytogenetic Map4D2.3UniSTS
Cytogenetic Map8B3.3UniSTS
Cytogenetic Map17A1UniSTS
Cytogenetic Map19AUniSTS
Cytogenetic Map7F1UniSTS
Cytogenetic Map14BUniSTS
Cytogenetic Map7F2UniSTS
Cytogenetic Map8E1UniSTS
Cytogenetic Map10D2UniSTS
Cytogenetic Map10B5.1UniSTS
Cytogenetic Map1E4UniSTS
Cytogenetic Map7E3UniSTS
Cytogenetic Map1A2UniSTS
Cytogenetic Map3F2.1UniSTS
Cytogenetic Map16A3UniSTS
Cytogenetic MapXA1.1UniSTS
Cytogenetic Map3F2.2UniSTS
Cytogenetic Map6E3UniSTS
Cytogenetic Map4C3UniSTS
Cytogenetic Map18B3UniSTS
cM Map1 UniSTS
Rpgr  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXA1.1UniSTS
cM MapX UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001177950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001428210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_011285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF044677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF286473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ318464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK017192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK029864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK038069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK038652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK081631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK136298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK138977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ260316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000044598   ⟹   ENSMUSP00000037358
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,024,455 - 10,083,159 (-)Ensembl
GRCm38.p6 EnsemblX10,158,216 - 10,216,920 (-)Ensembl
Ensembl Acc Id: ENSMUST00000072393   ⟹   ENSMUSP00000072229
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX9,939,860 - 10,083,159 (-)Ensembl
GRCm38.p6 EnsemblX10,073,621 - 10,216,920 (-)Ensembl
Ensembl Acc Id: ENSMUST00000073392   ⟹   ENSMUSP00000073106
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,024,455 - 10,083,159 (-)Ensembl
GRCm38.p6 EnsemblX10,158,216 - 10,216,920 (-)Ensembl
Ensembl Acc Id: ENSMUST00000115532   ⟹   ENSMUSP00000111194
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,026,847 - 10,083,159 (-)Ensembl
GRCm38.p6 EnsemblX10,160,608 - 10,216,920 (-)Ensembl
Ensembl Acc Id: ENSMUST00000115533   ⟹   ENSMUSP00000111195
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,024,611 - 10,083,159 (-)Ensembl
GRCm38.p6 EnsemblX10,158,372 - 10,216,920 (-)Ensembl
Ensembl Acc Id: ENSMUST00000115534   ⟹   ENSMUSP00000111196
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,024,455 - 10,082,692 (-)Ensembl
GRCm38.p6 EnsemblX10,158,216 - 10,216,453 (-)Ensembl
Ensembl Acc Id: ENSMUST00000124744
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,073,240 - 10,082,972 (-)Ensembl
GRCm38.p6 EnsemblX10,207,001 - 10,216,733 (-)Ensembl
Ensembl Acc Id: ENSMUST00000143532
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,079,787 - 10,082,721 (-)Ensembl
GRCm38.p6 EnsemblX10,213,548 - 10,216,482 (-)Ensembl
Ensembl Acc Id: ENSMUST00000155734
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,047,207 - 10,082,997 (-)Ensembl
GRCm38.p6 EnsemblX10,180,968 - 10,216,758 (-)Ensembl
Ensembl Acc Id: ENSMUST00000250010   ⟹   ENSMUSP00000160096
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,024,454 - 10,082,964 (-)Ensembl
Ensembl Acc Id: ENSMUST00000250011   ⟹   ENSMUSP00000160097
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX10,024,454 - 10,082,964 (-)Ensembl
RefSeq Acc Id: NM_001177950   ⟹   NP_001171421
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X10,024,455 - 10,083,034 (-)NCBI
GRCm38X10,158,216 - 10,216,795 (-)ENTREZGENE
MGSCv37X9,735,342 - 9,793,921 (-)RGD
CeleraX7,863,918 - 7,924,303 (-)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001177951   ⟹   NP_001171422
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X10,026,848 - 10,083,034 (-)NCBI
GRCm38X10,160,609 - 10,216,795 (-)NCBI
MGSCv37X9,735,342 - 9,793,921 (-)RGD
CeleraX7,863,918 - 7,924,303 (-)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001177952   ⟹   NP_001171423
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X10,024,455 - 10,082,692 (-)NCBI
GRCm38X10,158,216 - 10,216,453 (-)NCBI
MGSCv37X9,735,342 - 9,793,921 (-)RGD
CeleraX7,863,918 - 7,924,303 (-)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001177953   ⟹   NP_001171424
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X10,047,205 - 10,083,034 (-)NCBI
GRCm38X10,180,966 - 10,216,795 (-)NCBI
MGSCv37X9,735,342 - 9,793,921 (-)RGD
CeleraX7,863,918 - 7,924,303 (-)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001177954   ⟹   NP_001171425
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X10,073,240 - 10,083,034 (-)NCBI
GRCm38X10,207,001 - 10,216,795 (-)NCBI
MGSCv37X9,735,342 - 9,793,921 (-)RGD
CeleraX7,863,918 - 7,924,303 (-)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_011285   ⟹   NP_035415
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X10,024,455 - 10,083,034 (-)NCBI
GRCm38X10,158,216 - 10,216,795 (-)ENTREZGENE
MGSCv37X9,735,342 - 9,793,921 (-)RGD
CeleraX7,863,918 - 7,924,303 (-)RGD
cM MapX ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001171421 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171422 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171423 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171425 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415130 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415132 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415133 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415134 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415135 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415136 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415137 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415138 (Get FASTA)   NCBI Sequence Viewer  
  NP_001415139 (Get FASTA)   NCBI Sequence Viewer  
  NP_035415 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC40190 (Get FASTA)   NCBI Sequence Viewer  
  AAG00552 (Get FASTA)   NCBI Sequence Viewer  
  AAH24784 (Get FASTA)   NCBI Sequence Viewer  
  AEO00588 (Get FASTA)   NCBI Sequence Viewer  
  BAB30628 (Get FASTA)   NCBI Sequence Viewer  
  BAC26649 (Get FASTA)   NCBI Sequence Viewer  
  BAC30082 (Get FASTA)   NCBI Sequence Viewer  
  BAE22920 (Get FASTA)   NCBI Sequence Viewer  
  BAE23845 (Get FASTA)   NCBI Sequence Viewer  
  CAB54041 (Get FASTA)   NCBI Sequence Viewer  
  CAC86115 (Get FASTA)   NCBI Sequence Viewer  
  EDL35672 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000037358
  ENSMUSP00000037358.7
  ENSMUSP00000072229.3
  ENSMUSP00000073106
  ENSMUSP00000073106.5
  ENSMUSP00000111194
  ENSMUSP00000111194.2
  ENSMUSP00000111195.2
  ENSMUSP00000111196
  ENSMUSP00000111196.2
GenBank Protein Q9R0X5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_035415   ⟸   NM_011285
- Peptide Label: isoform 3
- UniProtKB: A2ADP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171421   ⟸   NM_001177950
- Peptide Label: isoform 1
- UniProtKB: Q9R0X5 (UniProtKB/Swiss-Prot),   Q9CU92 (UniProtKB/Swiss-Prot),   O88408 (UniProtKB/Swiss-Prot),   G9BBQ2 (UniProtKB/Swiss-Prot),   A2ADP3 (UniProtKB/Swiss-Prot),   A0A067XG46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171423   ⟸   NM_001177952
- Peptide Label: isoform 4
- UniProtKB: Q3UTY5 (UniProtKB/TrEMBL),   A2ADP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171422   ⟸   NM_001177951
- Peptide Label: isoform 2
- UniProtKB: Q8CDM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171424   ⟸   NM_001177953
- Peptide Label: isoform 5
- UniProtKB: Q8CAJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171425   ⟸   NM_001177954
- Peptide Label: isoform 6
- Sequence:
Ensembl Acc Id: ENSMUSP00000073106   ⟸   ENSMUST00000073392
Ensembl Acc Id: ENSMUSP00000072229   ⟸   ENSMUST00000072393
Ensembl Acc Id: ENSMUSP00000111196   ⟸   ENSMUST00000115534
Ensembl Acc Id: ENSMUSP00000111194   ⟸   ENSMUST00000115532
Ensembl Acc Id: ENSMUSP00000111195   ⟸   ENSMUST00000115533
Ensembl Acc Id: ENSMUSP00000037358   ⟸   ENSMUST00000044598
Ensembl Acc Id: ENSMUSP00000160096   ⟸   ENSMUST00000250010
Ensembl Acc Id: ENSMUSP00000160097   ⟸   ENSMUST00000250011

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9R0X5-F1-model_v2 AlphaFold Q9R0X5 1-1001 view protein structure

Promoters
RGD ID:6846327
Promoter ID:MM_KWN:59569
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   MEF_B4,   MEF_B6
Transcripts:ENSMUST00000072393,   ENSMUST00000115530,   ENSMUST00000115531,   ENSMUST00000115532,   ENSMUST00000115533,   ENSMUST00000115534,   ENSMUST00000115536,   ENSMUST00000115539,   OTTMUST00000041011,   OTTMUST00000041016,   OTTMUST00000041020,   OTTMUST00000041021,   OTTMUST00000041040
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X9,793,396 - 9,794,007 (-)MPROMDB
RGD ID:13680084
Promoter ID:EPDNEW_M24191
Type:multiple initiation site
Name:Rpgr_2
Description:Mus musculus retinitis pigmentosa GTPase regulator , transcriptvariant 6, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24192  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X10,216,451 - 10,216,511EPDNEW
RGD ID:13680088
Promoter ID:EPDNEW_M24192
Type:initiation region
Name:Rpgr_1
Description:Mus musculus retinitis pigmentosa GTPase regulator , transcriptvariant 6, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24191  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X10,216,706 - 10,216,766EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1344037 AgrOrtholog
Ensembl Genes ENSMUSG00000031174 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000044598 ENTREZGENE
  ENSMUST00000044598.13 UniProtKB/TrEMBL
  ENSMUST00000072393.9 UniProtKB/TrEMBL
  ENSMUST00000073392 ENTREZGENE
  ENSMUST00000073392.11 UniProtKB/TrEMBL
  ENSMUST00000115532 ENTREZGENE
  ENSMUST00000115532.2 UniProtKB/TrEMBL
  ENSMUST00000115533.8 UniProtKB/TrEMBL
  ENSMUST00000115534 ENTREZGENE
  ENSMUST00000115534.8 UniProtKB/TrEMBL
  ENSMUST00000124744 ENTREZGENE
  ENSMUST00000155734 ENTREZGENE
Gene3D-CATH 2.130.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro RCC1/BLIP-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reg_chr_condens UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ub-ligase/GTPase-reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:19893 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1344037 ENTREZGENE
NCBI Gene 19893 ENTREZGENE
PANTHER UBIQUITIN-PROTEIN LIGASE E3A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  X-LINKED RETINITIS PIGMENTOSA GTPASE REGULATOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RCC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Rpgr PhenoGen
PRINTS RCCNDNSATION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RCC1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A067XG46 ENTREZGENE, UniProtKB/TrEMBL
  A2ADP2 ENTREZGENE, UniProtKB/TrEMBL
  A2ADP3 ENTREZGENE
  A2ADP5_MOUSE UniProtKB/TrEMBL
  G9BBQ2 ENTREZGENE
  O88408 ENTREZGENE
  Q05CJ6_MOUSE UniProtKB/TrEMBL
  Q3UTY5 ENTREZGENE, UniProtKB/TrEMBL
  Q3UWJ5 ENTREZGENE, UniProtKB/TrEMBL
  Q8CAJ5 ENTREZGENE, UniProtKB/TrEMBL
  Q8CDM3 ENTREZGENE, UniProtKB/TrEMBL
  Q9CU92 ENTREZGENE
  Q9ET15_MOUSE UniProtKB/TrEMBL
  Q9R0X5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2ADP3 UniProtKB/Swiss-Prot
  G9BBQ2 UniProtKB/Swiss-Prot
  O88408 UniProtKB/Swiss-Prot
  Q9CU92 UniProtKB/Swiss-Prot