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Gene Ontology Classifications
Symbol
Name
ID
Rp1
retinitis pigmentosa 1 (human)
MGI:1341105

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Rp1. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


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. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing. [provided by RefSeq, Sep 2010]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Liu J et al. (2005) Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations. Hum Mol Genet, 14:2945-58. (PubMed:16126734)
  2. Liu Q et al. (2004) The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci, 24:6427-36. (PubMed:15269252)
  3. Liu Q et al. (2003) RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci, 44:4171-83. (PubMed:14507858)
  4. Liu Q et al. (2002) Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci, 43:22-32. (PubMed:11773008)
  5. Sedmak T et al. (2010) Intraflagellar transport molecules in ciliary and nonciliary cells of the retina. J Cell Biol, 189:171-86. (PubMed:20368623)
  6. Westfall JE et al. (2010) Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci, 30:8759-68. (PubMed:20592197)
  7. Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol, 2011:391384. (PubMed:21052544)
  8. Zhao Y et al. (2003) The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci U S A, 100:3965-70. (PubMed:12651948)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory