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Rp1
Gene Detail
Symbol

Name
ID
Rp1
retinitis pigmentosa 1 (human)
MGI:1341105
Synonyms
Dcdc3, mG145, Orp1, oxygen-regulated protein 1, Rp1h
Feature Type
protein coding gene
Genetic Map
Chromosome 1
1.65 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:4343507-4360314 bp, - strand
From Ensembl annotation of GRCm38

  16808 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4564  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Rp1

Human
homologs
Human Homolog RP1, retinitis pigmentosa 1 (autosomal dominant)
NCBI Gene ID 6101
neXtProt AC  NX_P56715
Human Synonyms  DCDC4A, ORP1
Human Chr (Location)  8q12.1; chr8:54616067-54630834 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human RP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal.
 
Human Diseases Modeled Using Mouse Rp1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)
Interactions
Rp1 interacts with 250 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process axoneme assembly, cell projection organization, ...
Component axoneme, cell projection, ...
Function microtubule binding
External Resources: FuncBase
Expression
Literature Summary: (4 records)
cDNA source data(50)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(51) cDNA(50) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000025900 (Evidence)
Entrez Gene19888 (Evidence)
UniGene294263
DFCITC1581340, TC1603991
DoTSDT.55269505, DT.97405530
NIA Mouse Gene IndexU021092
Consensus CDS ProjectCCDS14804.1
International Mouse Knockout Project StatusRp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000025900 Ensembl Gene Model | MGI Sequence Detail 16808 C57BL/6J ±  kb
transcript ENSMUST00000027032 Ensembl | MGI Sequence Detail 7508 Not Applicable 
polypeptide ENSMUSP00000027032 Ensembl | MGI Sequence Detail 2095 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(8) UniProt(11)
Polymorphisms
RFLP(1) : SNPs within 2kb(795 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003533 Doublecortin domain
Protein Ontology PR:000014166 oxygen-regulated protein 1
References
(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:214837 Song D, et al., A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol. 2014 Oct;184(10):2721-9
All references(43)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory