RP1

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This article is about the protein. For the rocket fuel, see RP-1. For other uses, see RP 1.
Retinitis pigmentosa 1 (autosomal dominant)
Identifiers
Symbols RP1 ; DCDC4A; ORP1
External IDs OMIM603937 MGI1341105 HomoloGene4564 GeneCards: RP1 Gene
RNA expression pattern
PBB GE RP1 gnf1h00088 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6101 19888
Ensembl ENSG00000104237 ENSMUSG00000025900
UniProt P56715 P56716
RefSeq (mRNA) NM_006269 NM_001195662
RefSeq (protein) NP_006260 NP_001182591
Location (UCSC) Chr 8:
55.53 – 55.54 Mb
Chr 1:
4.34 – 4.36 Mb
PubMed search [1] [2]

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.[1][2]

Function[edit]

Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology.[2]

References[edit]

  1. ^ Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP (Mar 1992). "Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8". Genomics 11 (4): 857–69. doi:10.1016/0888-7543(91)90008-3. PMID 1783394. 
  2. ^ a b "Entrez Gene: RP1 retinitis pigmentosa 1 (autosomal dominant)". 

Further reading[edit]

External links[edit]