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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
Chr1:4290846-4409241 bp, - strand
From VEGA annotation of GRCm38

  118396 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

HCOP human homology predictions: RP1
Gene Tree: Rp1

Human
homologs
RP1, retinitis pigmentosa 1 (autosomal dominant)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 6101
neXtProt AC: NX_P56715

Human Synonyms: DCDC4A, ORP1

Human Chr (Location): 8q12.1; chr8:54616067-54630834 (+)  GRCh38.p2

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 , CvDC )
 
Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal.
 
Human Diseases Modeled in Mice Using Rp1 (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(51) cDNA(50) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000049985 (Evidence)
Ensembl Gene Model ENSMUSG00000025900 (Evidence)
Entrez Gene 19888 (Evidence)
UniGene 294263
DFCI TC1581340, TC1603991
DoTS DT.97405530, DT.55269505
NIA Mouse Gene Index U021092
Consensus CDS Project CCDS14804.1
International Mouse Phenotyping Consortium Status Rp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049985 VEGA Gene Model | MGI Sequence Detail 118396 C57BL/6J ±  kb
transcript OTTMUST00000127195 VEGA | MGI Sequence Detail 6869 Not Applicable 
polypeptide OTTMUSP00000068684 VEGA | MGI Sequence Detail 2095 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(6) UniProt(7)
Polymorphisms
RFLP(1) : SNPs within 2kb(802 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(44)
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
05/20/2015
MGI 5.22
The Jackson Laboratory