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Rpgr retinitis pigmentosa GTPase regulator [ Mus musculus (house mouse) ]

Gene ID: 19893, updated on 12-Aug-2019

Summary

Official Symbol
Rpgrprovided by MGI
Official Full Name
retinitis pigmentosa GTPase regulatorprovided by MGI
Primary source
MGI:MGI:1344037
See related
Ensembl:ENSMUSG00000031174
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rd9; Rp3h
Expression
Broad expression in CNS E14 (RPKM 3.9), whole brain E14.5 (RPKM 3.6) and 19 other tissues See more
Orthologs

Genomic context

See Rpgr in Genome Data Viewer
Location:
X; X A1.1
Exon count:
20
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (10158216..10216795, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (9735342..9793921, complement)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene sushi-repeat-containing protein Neighboring gene predicted gene, 33844 Neighboring gene ornithine transcarbamylase Neighboring gene ferritin light chain pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: Srpx

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
cellular response to light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly ISO
Inferred from Sequence Orthology
more info
 
eye photoreceptor cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retina morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
visual perception ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
cell projection ISO
Inferred from Sequence Orthology
more info
 
centrosome ISO
Inferred from Sequence Orthology
more info
 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
X-linked retinitis pigmentosa GTPase regulator
Names
mRpgr

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001177950.1NP_001171421.1  X-linked retinitis pigmentosa GTPase regulator isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL671042
    Consensus CDS
    CCDS53001.1
    UniProtKB/TrEMBL
    A0A067XG46
    Related
    ENSMUSP00000037358.6, ENSMUST00000044598.12
    Conserved Domains (2) summary
    pfam00415
    Location:246296
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:180209
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. NM_001177951.1NP_001171422.1  X-linked retinitis pigmentosa GTPase regulator isoform 2

    See identical proteins and their annotated locations for NP_001171422.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and CDS compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK029864, AL671042
    Consensus CDS
    CCDS53002.1
    UniProtKB/TrEMBL
    Q8CDM3
    Related
    ENSMUSP00000111194.1, ENSMUST00000115532.1
    Conserved Domains (2) summary
    pfam00415
    Location:246296
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:180209
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  3. NM_001177952.1NP_001171423.1  X-linked retinitis pigmentosa GTPase regulator isoform 4

    See identical proteins and their annotated locations for NP_001171423.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK138977, AL671042
    Consensus CDS
    CCDS53000.1
    UniProtKB/TrEMBL
    Q3UTY5
    Related
    ENSMUSP00000111196.1, ENSMUST00000115534.7
    Conserved Domains (2) summary
    pfam00415
    Location:151201
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:85114
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  4. NM_001177953.1NP_001171424.1  X-linked retinitis pigmentosa GTPase regulator isoform 5

    See identical proteins and their annotated locations for NP_001171424.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks exons in the 3' coding region and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform 5) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK038652, AL671042
    UniProtKB/TrEMBL
    Q8CAJ5
    Conserved Domains (2) summary
    pfam00415
    Location:93139
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:180209
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  5. NM_001177954.1NP_001171425.1  X-linked retinitis pigmentosa GTPase regulator isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks exons in the 3' coding region and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform 6) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK081631, AL671042
    Conserved Domains (2) summary
    pfam00415
    Location:93139
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:180209
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  6. NM_011285.2NP_035415.1  X-linked retinitis pigmentosa GTPase regulator isoform 3

    See identical proteins and their annotated locations for NP_035415.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Isoform 3 is shorter compared to isoform 1.
    Source sequence(s)
    AF044677, AL671042
    Consensus CDS
    CCDS30014.1
    UniProtKB/Swiss-Prot
    Q9R0X5
    UniProtKB/TrEMBL
    A2ADP2
    Related
    ENSMUSP00000073106.4, ENSMUST00000073392.10
    Conserved Domains (2) summary
    pfam00415
    Location:246296
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:180209
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000086.7 Reference GRCm38.p6 C57BL/6J

    Range
    10158216..10216795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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