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Rp1 Gene Detail
Summary
  • Symbol
    Rp1
  • Name
    retinitis pigmentosa 1 (human)
  • Synonyms
    Dcdc3, mG145, Orp1, oxygen-regulated protein 1, Rp1h
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341105
    NCBI Gene: 19888
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:4185896-4479508 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 1.65 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8661 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341105
 protein coding gene Chr1:4069780-4479508 (-)
129S1/SvImJ MGP_129S1SvImJ_G0015808
 protein coding gene Chr1:1311255-1445784 (-)
A/J MGP_AJ_G0015790
 protein coding gene Chr1:1397445-1516008 (-)
AKR/J MGP_AKRJ_G0015749
 protein coding gene Chr1:1359860-1494041 (-)
BALB/cJ MGP_BALBcJ_G0015746
 protein coding gene Chr1:1333746-1451793 (-)
C3H/HeJ MGP_C3HHeJ_G0015580
 protein coding gene Chr1:1354882-1478334 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016198
 protein coding gene Chr1:1395482-1520558 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0013920
 protein coding gene Chr1:1121287-1235439 (-)
CAST/EiJ MGP_CASTEiJ_G0015160
 protein coding gene Chr1:1519080-1595829 (-)
CBA/J MGP_CBAJ_G0015554
 protein coding gene Chr1:1495911-1626146 (-)
DBA/2J MGP_DBA2J_G0015652
 protein coding gene Chr1:1317819-1439408 (-)
FVB/NJ MGP_FVBNJ_G0015657
 protein coding gene Chr1:1292394-1403258 (-)
LP/J MGP_LPJ_G0015725
 protein coding gene Chr1:1499812-1624554 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015676
 protein coding gene Chr1:1612569-1758577 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016245
 protein coding gene Chr1:1323293-1442325 (-)
PWK/PhJ MGP_PWKPhJ_G0014944
 protein coding gene Chr1:1236349-1314995 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014724
 protein coding gene Chr1:1503149-1621464 (-)
WSB/EiJ MGP_WSBEiJ_G0015224
 protein coding gene Chr1:1320708-1404121 (-)



Homology
more
  • Human Ortholog
    RP1, RP1 axonemal microtubule associated
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RP1, RP1 axonemal microtubule associated
  • Synonyms
    DCDC4A, ORP1
  • Links
    NCBI Gene ID: 6101
    neXtProt AC: NX_P56715
    UniProt: P56715

  • Chr Location
    8q11.23-q12.1; chr8:54509422-54871720 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Rp1 mouse models; 1 with human RP1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 7 alleles in 8 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    16
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    711
  • Tissues
    3
  • cDNA Data
    51
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19888 NCBI Gene Model | MGI Sequence Detail 293613 C57BL/6J ±  kb
    transcript NM_011283 RefSeq | MGI Sequence Detail 6854 ZRU/MplStud  
    polypeptide P56716 UniProt | EBI | MGI Sequence Detail 2095 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      cDNA 51
      Primer pair 2
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 16
      Phenotypes 14
    • Earliest
      J:55847 Pierce EA, et al., Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999 Jul;22(3):248-54
    • Latest
      J:329268 Langouet M, et al., Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration. Sci Adv. 2022 Sep 9;8(36):eabh2868
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory