Homo sapiens Gene: RP1 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Gene | IDBG-22034.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | RP1 | ||||||||||||||||||||||||
Gene Name | retinitis pigmentosa 1 (autosomal dominant) | ||||||||||||||||||||||||
Synonyms | DCDC4A; ORP1 | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Gene | ENSG00000104237 | ||||||||||||||||||||||||
Encoded Proteins |
retinitis pigmentosa 1 (autosomal dominant)
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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. 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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 8:54616067-54630834 | ||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||
Band | q12.1 | ||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||||||||
SwissProt | P56715 | ||||||||||||||||||||||||
TrEMBL | A0FDN2 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 6101 | ||||||||||||||||||||||||
UniGene | Hs.732820 | ||||||||||||||||||||||||
RefSeq | NM_006269 | ||||||||||||||||||||||||
HUGO | HGNC:10263 | ||||||||||||||||||||||||
OMIM | 603937 | ||||||||||||||||||||||||
CCDS | CCDS6160 | ||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AF128525 AF141021 AF143222 AF143224 AF143225 AF143226 AF146592 AF152240 AF152241 AF152242 DQ980612 DQ980613 DQ980614 DQ980615 | ||||||||||||||||||||||||
GenPept | AAD42072 AAD44197 AAD44198 AAD46769 AAD46774 ABJ97137 ABJ97138 ABJ97139 ABJ97140 | ||||||||||||||||||||||||
RNA Seq Atlas | 6101 | ||||||||||||||||||||||||