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; 1 chicken

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; chr8:55528627-55543394 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human RP1

Alleles and phenotypes

All alleles(4) : Targeted(3) Chemically induced(1)
 

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(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (26 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(52)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(53) cDNA(52) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000025900 (Evidence)
Entrez Gene	19888 (Evidence)
UniGene	294263
DFCI	TC1581340, TC1603991
DoTS	DT.55269505, DT.97405530
NIA Mouse Gene Index	U021092
Consensus CDS Project	CCDS14804.1
International Mouse Knockout Project Status	Rp1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000025900	Ensembl Gene Model | MGI Sequence Detail	16808	C57BL/6J
transcript	ENSMUST00000027032	Ensembl | MGI Sequence Detail	7508	Not Applicable
polypeptide	ENSMUSP00000027032	Ensembl | MGI Sequence Detail	2095	Not Applicable

All sequences(34) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(125 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191685 Liu Q, et al., Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. PLoS One. 2012;7(8):e43251
All references(41)