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

GO curators for mouse genes have assigned the following annotations to the gene product of Ttc8. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 2, 2010. 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.] This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized. [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 Ttc8
  • is located in the following cellular components:
    • BBSome ^[2]
    • photoreceptor connecting cilium ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ttc8
  • participates in the following biological processes:
    • camera-type eye photoreceptor cell differentiation ^[3]
    • cilium assembly ^[3]
    • multicellular organism growth ^[3]
    • olfactory bulb development ^[3]
    • regulation of protein localization ^[3]
    • renal tubule development ^[3]
    • sensory perception of smell ^[3]
• Researchers have inferred, based on genetic interactions, that the gene product of Ttc8
  • participates in the following biological processes:
    • axon guidance based on interactions with Olfr160, Olfr17 ^[3]

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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 Ttc8:
  • participates in the following biological processes:
    • establishment of anatomical structure orientation
  • is located in the following cellular components:
    • BBSome
    • centrosome
    • cilium part
    • microtubule basal body

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ttc8 indicates that it:
  • participates in the following biological processes:
    • cell projection organization
  • is located in the following cellular components:
    • cell projection
    • cilium
    • cytoplasm
    • cytoskeleton
    • membrane
    • plasma membrane
• Annotations directly to molecular function for the gene Ttc8 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. Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature, 425:628-33. (PubMed:14520415)
2. Seo S et al. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A, null:null. (PubMed:20080638)
3. Tadenev AL et al. (2011) Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. Proc Natl Acad Sci U S A, 108:10320-5. (PubMed:21646512)

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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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