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RPGR retinitis pigmentosa GTPase regulator [ Canis lupus familiaris (dog) ]

Gene ID: 403726, updated on 5-Mar-2024

Summary

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Gene symbol
RPGR
Gene description
retinitis pigmentosa GTPase regulator
See related
Ensembl:ENSCAFG00845024867
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Canis lupus familiaris (sub-species: familiaris)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs
human mouse all
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Genomic context

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See RPGR in Genome Data Viewer
Location:
chromosome: X
Exon count:
24
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) X NC_051843.1 (33082215..33156658, complement)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) X NC_006621.4 (20405036..20453690, complement)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) X NC_049260.1 (33198692..33247323, complement)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) X NC_049299.1 (33184774..33233420, complement)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) X NC_049780.1 (33156625..33205531, complement)

Chromosome X - NC_051843.1Genomic Context describing neighboring genes Neighboring gene synaptotagmin like 5 Neighboring gene 60S ribosomal protein L7a-like Neighboring gene sushi repeat containing protein X-linked Neighboring gene thymosin beta-4-like Neighboring gene ornithine transcarbamylase Neighboring gene ferritin light chain-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Molecular studies of phenotype variation in canine RPGR-XLPRA1. Appelbaum T, et al. Mol Vis, 2016. PMID 27122963, Free PMC Article
  2. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Zhang Q, et al. Hum Mol Genet, 2002 May 1. PMID 11978759
  3. Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes. Atencia-Fernandez S, et al. Anim Genet, 2015 Apr. PMID 25644216
  4. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Zeiss CJ, et al. Hum Mol Genet, 2000 Mar 1. PMID 10699176
  5. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
X-linked retinitis pigmentosa GTPase regulator
Names
retinitis pigmentosa GTP-ase regulator RPGR

NCBI Reference Sequences (RefSeq)

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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_001389216.1 → NP_001376145.1  X-linked retinitis pigmentosa GTPase regulator

    Status: VALIDATED

    Source sequence(s)
    AF148798, AF148801, JAAUVH010000175
    UniProtKB/Swiss-Prot
    Q9N1T2, Q9N1T3, Q9N1T4, Q9N1T5
    Conserved Domains (2) summary
    PTZ00341
    Location:353 → 808
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:2 → 305
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

Reference ROS_Cfam_1.0

Genomic

  1. NC_051843.1 Reference ROS_Cfam_1.0

    Range
    33082215..33156658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038448808.1 → XP_038304736.1  X-linked retinitis pigmentosa GTPase regulator isoform X2

    UniProtKB/TrEMBL
    A0A8C0SZ76
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  2. XM_038448811.1 → XP_038304739.1  X-linked retinitis pigmentosa GTPase regulator isoform X5

    UniProtKB/TrEMBL
    A0A8I3PJX1, A0A8P0NFW7
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  3. XM_038448810.1 → XP_038304738.1  X-linked retinitis pigmentosa GTPase regulator isoform X4

    UniProtKB/TrEMBL
    A0A8I3PJX1, A0A8P0NFW7
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  4. XM_038448812.1 → XP_038304740.1  X-linked retinitis pigmentosa GTPase regulator isoform X6

    UniProtKB/TrEMBL
    A0A8I3PJX1, A0A8P0NFW7
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  5. XM_038448807.1 → XP_038304735.1  X-linked retinitis pigmentosa GTPase regulator isoform X1

    UniProtKB/TrEMBL
    A0A8C0Z0Q0, A0A8I3PQ55, A0A8P0NPG2
    Related
    ENSCAFP00845034909.1, ENSCAFT00845044552.1
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  6. XM_038448815.1 → XP_038304743.1  X-linked retinitis pigmentosa GTPase regulator isoform X9

    UniProtKB/TrEMBL
    A0A8C0MYB9, A0A8I3PPJ3
    Related
    ENSCAFP00845035024.1, ENSCAFT00845044701.1
    Conserved Domains (3) summary
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    NF033845
    Location:475 → 654
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  7. XM_038448813.1 → XP_038304741.1  X-linked retinitis pigmentosa GTPase regulator isoform X7

    UniProtKB/TrEMBL
    A0A8P0PMQ2
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  8. XM_038448809.1 → XP_038304737.1  X-linked retinitis pigmentosa GTPase regulator isoform X3

    UniProtKB/TrEMBL
    A0A8C0SZK4, A0A8I3PL28, A0A8P0T6P4
    Related
    ENSCAFP00845035141.1, ENSCAFT00845044841.1
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  9. XM_038448814.1 → XP_038304742.1  X-linked retinitis pigmentosa GTPase regulator isoform X8

    UniProtKB/TrEMBL
    A0A8I3PJX1, A0A8P0NFW7
    Related
    ENSCAFP00845034600.1, ENSCAFT00845044155.1
    Conserved Domains (3) summary
    PTZ00341
    Location:455 → 910
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    COG5184
    Location:83 → 357
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:359 → 408
    RCC1; Regulator of chromosome condensation (RCC1) repeat

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049299.1 Alternate UMICH_Zoey_3.1

    Range
    33184774..33233420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049780.1 Alternate UNSW_CanFamBas_1.0

    Range
    33156625..33205531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049260.1 Alternate UU_Cfam_GSD_1.0

    Range
    33198692..33247323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006621.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    20405036..20453690 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003126.1: Suppressed sequence

    Description
    NM_001003126.1: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9N1T2.1 GenPept UniProtKB/Swiss-Prot:Q9N1T2

Gene LinkOut

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