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Gene Ontology Classifications
Symbol
Name
ID
Mkks
McKusick-Kaufman syndrome
MGI:1891836

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

GO curators for mouse genes have assigned the following annotations to the gene product of Mkks. (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 February 2, 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


This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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. Beyer AM et al. (2010) Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. Am J Physiol Heart Circ Physiol, 299:H1902-7. (PubMed:20852044)
  2. Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A, 104:19422-7. (PubMed:18032602)
  3. Fath MA et al. (2005) Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet, 14:1109-18. (PubMed:15772095)
  4. 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)
  5. Kaushik AP et al. (2009) Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice. J Orthop Res, 27:1093-9. (PubMed:19195025)
  6. Rachel RA et al. (2012) Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest, 122:1233-45. (PubMed:22446187)
  7. Rahmouni K et al. (2008) Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest, 118:1458-67. (PubMed:18317593)
  8. Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet, 37:1135-40. (PubMed:16170314)
  9. 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)
  10. Seo S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet, 18:1323-31. (PubMed:19150989)
  11. Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A, 105:3380-5. (PubMed:18299575)
  12. Tobin JL et al. (2008) Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A, 105:6714-9. (PubMed:18443298)



Go Annotations in Tabular Form (Text View) (GO Graph)

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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
07/28/2015
MGI 5.22
The Jackson Laboratory