Symbol: Name: ID: |
RP1 retinitis pigmentosa 1 (autosomal dominant) GFS:234 |
Gene name: | RP1 |
Chromosome: | 8q12.1 |
Previous Symbols: | |
Previous Names: | |
Aliases: | DCDC4A |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1341105 | Rat Genome Database ID: | RGD:1596713 |
HGNC ID: | HGNC:10263 | RefSeq IDs: | NM_006269 |
Entrez Gene ID: | 6101 | Ensembl Gene ID: | ENSG00000104237 |
VEGA IDs: | UniProt ID: | P56715 | |
UCSC ID: | uc003xsd.1 | OMIM ID: | 603937 |
Pubmed: | PMID1783394 | ||
CCDS IDs: | CCDSCCDS6160.1 |
Retinitis pigmentosa 1 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for RP1 gene
Catalog | Product Name | Application | Company |
GFS:E00234 | retinitis pigmentosa 1 (autosomal dominant); ELISA kit | ELISA | n/a |
GFS:A00234 | retinitis pigmentosa 1 (autosomal dominant); Anti | ANTIBODIES | n/a |
GFS:P00234 | retinitis pigmentosa 1 (autosomal dominant); Protien | Protien | n/a |