Version 5.4
Mus musculus Gene: Rp1
Summary
InnateDB Gene IDBG-131541.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Rp1
Gene Name retinitis pigmentosa 1 (human)
Synonyms Dcdc3; mG145; Orp1; Rp1h
Species Mus musculus
Ensembl Gene ENSMUSG00000025900
Encoded Proteins
IDBP-131543
retinitis pigmentosa 1 (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing. [provided by RefSeq, Sep 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:4343507-4360314
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000027032 ENSMUSP00000027032
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008017 microtubule binding
Biological Process
GO:0007026 negative regulation of microtubule depolymerization
GO:0007601 visual perception
GO:0035082 axoneme assembly
GO:0035556 intracellular signal transduction
GO:0035845 photoreceptor cell outer segment organization
GO:0042461 photoreceptor cell development
GO:0045494 photoreceptor cell maintenance
GO:0046548 retinal rod cell development
GO:0046549 retinal cone cell development
GO:0046785 microtubule polymerization
GO:0060041 retina development in camera-type eye
GO:0060042 retina morphogenesis in camera-type eye
GO:0071482 cellular response to light stimulus
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005875 microtubule associated complex
GO:0005929 cilium
GO:0005930 axoneme
GO:0032391 photoreceptor connecting cilium
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000104237
View Gene Order
ENSBTAG00000011203
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.294263 Mm.408336
RefSeq NM_011283
OMIM
CCDS CCDS14804
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca