| 1319776 | RP1L1 | RP1 like 1 | This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010] | 8 | 10606349 | 10655143 | Human | 935 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1586886 | Rp1l1 | RP1 like 1 | INVOLVED IN photoreceptor cell development (ortholog); photoreceptor cell maintenance (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN axoneme (ortholog); photoreceptor connecting cilium (or tholog); photoreceptor outer segment (ortholog); INTERACTS WITH 1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene (ortholog); 1,2-dichloroethane (ortholog); 2,2',4,4',5,5'-hexachlorobiphenyl (ortholog) | 15 | 42435803 | 42447165 | Rat | 56 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1617245 | Rp1l1 | retinitis pigmentosa 1 homolog like 1 | This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1 ='font-weight:700;'>RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010] | 14 | 64229880 | 64270955 | Mouse | 63 | symbol , PhenoGen , description | gene, protein-coding, REVIEWED [RefSeq] |
| 8968354 | Rp1l1 | RP1 like 1 | INVOLVED IN photoreceptor cell development (ortholog); photoreceptor cell maintenance (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN axoneme (ortholog); photoreceptor connecting cilium (or tholog); photoreceptor outer segment (ortholog) | NW_004955403 | 52180612 | 52200569 | Chinchilla | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11853770 | RP1L1 | RP1 like 1 | INVOLVED IN photoreceptor cell development (ortholog); photoreceptor cell maintenance (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN axoneme (ortholog); photoreceptor connecting cilium (or tholog); photoreceptor outer segment (ortholog) | 8 | 8586410 | 8605275 | Bonobo | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12302131 | RP1L1 | RP1 like 1 | INVOLVED IN photoreceptor cell development (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN photoreceptor connecting cilium (ortholog) | 25 | 27317102 | 27332075 | Dog | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12634388 | Rp1l1 | RP1 like 1 | INVOLVED IN axoneme assembly (inferred); cell projection organization (inferred); intracellular signal transduction (inferred); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN photoreceptor connecting cilium (ortholog) | NW_004936675 | 2527406 | 2564464 | Squirrel | 24 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14245347 | RP1L1 | RP1 like 1 | INVOLVED IN photoreceptor cell development (ortholog); photoreceptor cell maintenance (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN axoneme (ortholog); photoreceptor connecting cilium (or tholog); photoreceptor outer segment (ortholog) | | | | Pig | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18628564 | RP1L1 | RP1 like 1 | INVOLVED IN axoneme assembly (inferred); cell projection organization (inferred); intracellular signal transduction (inferred); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN photoreceptor connecting cilium (ortholog) | | | | Green Monkey | 25 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 20867320 | RP1L1 | RP1 like 1 | | | | | Green Monkey | | symbol | gene, protein-coding |
| 626068891 | Rp1l1 | RP1 like 1 | INVOLVED IN photoreceptor cell development (ortholog); photoreceptor cell maintenance (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN axoneme (ortholog); photoreceptor connecting cilium (or tholog); photoreceptor outer segment (ortholog) | | | | Black Rat | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18903074 | Rp1l1 | RP1 like 1 | INVOLVED IN photoreceptor cell maintenance (ortholog); ASSOCIATED WITH Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN photoreceptor connecting cilium (ortholog); photoreceptor outer segment (ortholog) | | | | Naked Mole-Rat | 24 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 329329101 | rp1l1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626188640 | rp1l1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 285539977 | rp1l1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1318061 | RP1 | RP1 axonemal microtubule associated | 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 ou ter 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] | 8 | 54559185 | 54871234 | Human | 698 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1318062 | Rp1 | retinitis pigmentosa 1 (human) | 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 ou ter 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. [provided by RefSeq, Jun 2019] | 1 | 4185896 | 4479508 | Mouse | 130 | description | gene, protein-coding, REVIEWED [RefSeq] |
