Bos taurus Gene: RP1
Summary
InnateDB Gene IDBG-644419.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RP1
Gene Name Oxygen-regulated protein 1
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000011203
Encoded Proteins
retinitis pigmentosa 1 (autosomal dominant)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000104237:
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. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:23990193-23999338
Strand Forward strand
Band
Transcripts
ENSBTAT00000014879 ENSBTAP00000014879
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008017 microtubule binding
Biological Process
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: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
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas