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

GO curators for mouse genes have assigned the following annotations to the gene product of Ift80. (This text reflects annotations as of Thursday, January 16, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of November 5, 2013. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 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 Ift80
  • is located in the following cellular components:
    • centrosome ^[2]
    • cilium ^{[2, 4]}
    • intraciliary transport particle B ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ift80
  • participates in the following biological processes:
    • bone morphogenesis ^[3]
    • chondrocyte differentiation ^[4]
    • cilium assembly ^[4]
    • cilium morphogenesis ^{[1, 5]}
    • negative regulation of epithelial cell proliferation ^[1]
    • osteoblast differentiation ^[5]
    • positive regulation of smoothened signaling pathway ^[4]
    • smoothened signaling pathway ^[3]
• Researchers have inferred, based on genetic interactions, that the gene product of Ift80
  • participates in the following biological processes:
    • chondrocyte differentiation based on interactions with Gli2 ^[4]
    • negative regulation of non-canonical Wnt signaling pathway based on interactions with Wnt3a ^[4]
    • osteoblast differentiation based on interactions with Gli2 ^[5]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Ift80
  • participates in the following biological processes:
    • intraciliary transport ^[2]
  • is located in the following cellular components:
    • cell ^[2]
    • cilium ^[2]
    • intracellular ^[2]

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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 Ift80:
  • is located in the following cellular components:
    • ciliary basal body

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ift80 indicates that it:
  • is located in the following cellular components:
    • cell projection
    • cytoplasm
    • cytoskeleton
• Annotations directly to molecular function for the gene Ift80 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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References

1. Ezratty EJ et al. (2011) A Role for the Primary Cilium in Notch Signaling and Epidermal Differentiation during Skin Development. Cell, 145:1129-41. (PubMed:21703454)
2. Follit JA et al. (2009) Characterization of mouse IFT complex B. Cell Motil Cytoskeleton, 66:457-68. (PubMed:19253336)
3. Rix S et al. (2011) An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum Mol Genet, 20:1306-14. (PubMed:21227999)
4. Wang C et al. (2013) IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways. Exp Cell Res, 319:623-32. (PubMed:23333501)
5. Yang S et al. (2012) The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis. Bone, 51:407-17. (PubMed:22771375)

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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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