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

GO curators for mouse genes have assigned the following annotations to the gene product of Prph. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

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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 Prph
  • participates in the following biological processes:
    • intermediate filament cytoskeleton organization ^[5]
  • is located in the following cellular components:
    • axon ^{[3, 6]}
    • C-fiber ^[6]
    • intermediate filament ^[5]
    • neurofilament ^[1]
    • photoreceptor outer segment membrane ^[2]
• The gene product of Prph has been shown to bind to the gene products of Myo5a. ^[4]

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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 Prph:
  • participates in the following biological processes:
    • intermediate filament cytoskeleton organization
  • is located in the following cellular components:
    • neuronal cell body
    • type III intermediate filament

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Summary text based on GO annotations supported by structural data

• Prph encodes a protein or proteins that contain the following InterPro domains: Filament, Intermediate filament head, DNA-binding domain, Intermediate filament protein, Intermediate filament protein, conserved site, Keratin, type I, indicating that the gene product:
  • performs the following molecular functions:
    • structural molecule activity

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References

1. Faussone-Pellegrini MS et al. (1999) The cytoskeleton of the myenteric neurons during murine embryonic life. Anat Embryol (Berl), 199:459-69. (PubMed:10221457)
2. Liu X et al. (1999) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci, 19:6267-74. (PubMed:10414956)
3. Loes S et al. (2002) Mouse rudimentary diastema tooth primordia are devoid of peripheral nerve fibers. Anat Embryol (Berl), 205:187-91. (PubMed:12107488)
4. Rao MV et al. (2002) Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density. J Cell Biol, 159:279-90. (PubMed:12403814)
5. Robertson J et al. (2003) A neurotoxic peripherin splice variant in a mouse model of ALS. J Cell Biol, 160:939-49. (PubMed:12642616)
6. Rush AM et al. (2005) Contactin regulates the current density and axonal expression of tetrodotoxin-resistant but not tetrodotoxin-sensitive sodium channels in DRG neurons. Eur J Neurosci, 22:39-49. (PubMed:16029194)

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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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