1. Gene
  2. Rp1 - retinitis pigmentosa 1 (human) Gene

Rp1 - retinitis pigmentosa 1 (human) Gene

Mus musculus

Also known as Orp1; Rp1h; Dcdc3; mG145; Gm38717

Gene ID: 19888 | Gene type: protein coding

About Rp1

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. [provided by RefSeq, Jun 2019]

Rp1 Products(3)

mRNA Protein Name
NM_001195662.1 NP_001182591.1 oxygen-regulated protein 1 isoform 2
NM_001370921.1 NP_001357850.1 oxygen-regulated protein 1 isoform 3
NM_011283.2 NP_035413.1 oxygen-regulated protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables microtubule binding IDA
IDA: Inferred from direct assay
15269252 MGI
Biological Process GO Annotation Evidence Reference Source
involved in axoneme assembly IDA
IDA: Inferred from direct assay
15269252 MGI
acts upstream of or within cellular response to light stimulus IMP
IMP: Inferred from mutant phenotype
21052544 MGI
involved in photoreceptor cell development IMP
IMP: Inferred from mutant phenotype
16126734 MGI
involved in photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
16126734 MGI
involved in photoreceptor cell outer segment organization IDA
IDA: Inferred from direct assay
14507858 MGI
acts upstream of or within positive regulation of non-motile cilium assembly IDA
IDA: Inferred from direct assay
21148103 MGI
acts upstream of or within positive regulation of non-motile cilium assembly IGI
IGI: Inferred from genetic interaction
21148103 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: Inferred from mutant phenotype
21052544 MGI
acts upstream of or within retina morphogenesis in camera-type eye IMP
IMP: Inferred from mutant phenotype
21052544 MGI
involved in retinal cone cell development IDA
IDA: Inferred from direct assay
14507858 MGI
involved in retinal rod cell development IDA
IDA: Inferred from direct assay
14507858 MGI
Cellular Component GO Annotation Evidence Reference Source
located in axoneme IDA
IDA: Inferred from direct assay
14507858 MGI
located in ciliary tip IDA
IDA: Inferred from direct assay
21148103 MGI
located in cilium IDA
IDA: Inferred from direct assay
11773008 MGI
part of microtubule associated complex IDA
IDA: Inferred from direct assay
15269252 MGI
located in photoreceptor cell cilium IDA
IDA: Inferred from direct assay
29899041 MGI
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
11773008 MGI
located in photoreceptor inner segment IDA
IDA: Inferred from direct assay
11773008 MGI
located in photoreceptor outer segment IDA
IDA: Inferred from direct assay
14507858 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

oxygen-regulated protein 1

lipoxygenase homology domain-containing protein 1

retinitis pigmentosa 1 homolog

retinitis pigmentosa RP1 protein homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Rp1 NCBI NCBI:6101
Canis familiaris Rp1 NCBI NCBI:403565
Macaca fascicularis Rp1 NCBI NCBI:102146237
Canis lupus familiaris Rp1 NCBI
Rattus norvegicus Rp1 NCBI NCBI:681377