About   Help   FAQ
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
  • Gene Overview
    MyGene.info: RP1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:3999557-4409241 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      409685 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 1.65 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RP1, RP1, axonemal microtubule associated
  • Vertebrate Orthologs
    7
  • Human Ortholog
    RP1, RP1, axonemal microtubule associated
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DCDC4A, ORP1
  • Links
    NCBI Gene ID: 6101
    neXtProt AC: NX_P56715
    UniProt: P56715

  • Chr Location
    8q11.23-q12.1; chr8:54509448-54630834 (+)  GRCh38.p7

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
    22 phenotypes from 7 alleles in 8 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    11 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000049985 VEGA Gene Model | MGI Sequence Detail 409685 C57BL/6J ±  kb
    transcript OTTMUST00000127195 VEGA | MGI Sequence Detail 6869 Not Applicable  
    polypeptide OTTMUSP00000068684 VEGA | MGI Sequence Detail 2095 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2995 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 51
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 15
      Phenotypes 11
    • 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:249145 Goetz JJ, et al., Polo-Like Kinase 3 Appears Dispensable for Normal Retinal Development Despite Robust Embryonic Expression. PLoS One. 2016;11(3):e0150878

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory