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Gene Ontology Classifications
Symbol
Name
ID
Ttc8
tetratricopeptide repeat domain 8
MGI:1923510

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 Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of January 30, 2015. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
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. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
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. Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature, 425:628-33. (PubMed:14520415)
  2. Chamling X et al. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet, 10:e1004083. (PubMed:24550735)
  3. Hernandez-Hernandez V et al. (2013) Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Hum Mol Genet, 22:3858-68. (PubMed:23716571)
  4. 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)
  5. Seo S et al. (2011) A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened. PLoS Genet, 7:e1002358. (PubMed:22072986)
  6. 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)
  7. Veleri S et al. (2012) Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PLoS One, 7:e34389. (PubMed:22479622)
  8. Zhang Q et al. (2011) Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A, 108:20678-83. (PubMed:22139371)
  9. Zhang Q et al. (2012) Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem, 287:20625-35. (PubMed:22500027)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  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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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory