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Gene Ontology Classifications
Symbol
Name
ID
Ift122
intraflagellar transport 122
MGI:1932386

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

GO curators for mouse genes have assigned the following annotations to the gene product of Ift122. (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.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 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 for additional MGI annotations
References
  1. Cortellino S et al. (2009) Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4. Dev Biol, 325:225-37. (PubMed:19000668)
  2. 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)
  3. Garcia-Garcia MJ et al. (2005) Inaugural Article: Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A, 102:5913-9. (PubMed:15755804)
  4. Jiang ST et al. (2009) Essential Role of Nephrocystin in Photoreceptor Intraflagellar Transport in Mouse. Hum Mol Genet, null:null. (PubMed:19208653)
  5. Liem KF Jr et al. (2012) The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J Cell Biol, 197:789-800. (PubMed:22689656)
  6. Ocbina PJ et al. (2011) Complex interactions between genes controlling trafficking in primary cilia. Nat Genet, 43:547-53. (PubMed:21552265)
  7. Qin J et al. (2011) Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc Natl Acad Sci U S A, 108:1456-61. (PubMed:21209331)



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

 
 


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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory