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 Wednesday, January 23, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Rp1
  • participates in the following biological processes:
    • axoneme assembly ^[2]
    • photoreceptor cell outer segment organization ^[3]
    • retinal cone cell development ^[3]
    • retinal rod cell development ^[3]
  • performs the following molecular functions:
    • microtubule binding ^[2]
  • is located in the following cellular components:
    • axoneme ^[3]
    • cilium ^{[4, 7]}
    • cilium axoneme ^[5]
    • microtubule associated complex ^[2]
    • photoreceptor connecting cilium ^{[3, 4]}
    • photoreceptor inner segment ^[4]
    • photoreceptor outer segment ^{[2, 3]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Rp1
  • participates in the following biological processes:
    • cellular response to light stimulus ^[6]
    • photoreceptor cell development ^[1]
    • photoreceptor cell maintenance ^[1]
    • retina development in camera-type eye ^[6]
    • retina morphogenesis in camera-type eye ^[6]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Rp1:
  • is located in the following cellular components:
    • photoreceptor connecting cilium
    • photoreceptor inner segment

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Summary text based on GO annotations supported by structural data

• Rp1 encodes a protein or proteins that contain the following InterPro domains: Doublecortin domain, indicating that the gene product:
  • participates in the following biological processes:
    • intracellular signal transduction

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Rp1 indicates that it:
  • participates in the following biological processes:
    • cell projection organization
    • response to stimulus
    • visual perception
  • is located in the following cellular components:
    • cell projection
    • cytoplasm
    • cytoskeleton

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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. Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol, 2011:391384. (PubMed:21052544)
7. 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)

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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

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