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

GO curators for mouse genes have assigned the following annotations to the gene product of Ofd1. (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 9, 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 is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [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 Ofd1
  • participates in the following biological processes:
    • cilium morphogenesis ^[2]
  • performs the following molecular functions:
    • alpha-tubulin binding ^[2]
    • gamma-tubulin binding ^[2]
  • is located in the following cellular components:
    • centriole ^[2]
    • cilium ^[2]
    • microtubule basal body ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ofd1
  • participates in the following biological processes:
    • cilium axoneme assembly ^[1]
    • cilium morphogenesis ^[1]
    • epithelial cilium movement involved in determination of left/right asymmetry ^[1]

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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 Ofd1:
  • is located in the following cellular components:
    • centriole
    • centrosome
    • cilium
    • microtubule basal body
    • microtubule cytoskeleton

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ofd1 indicates that it:
  • participates in the following biological processes:
    • cell projection organization
  • is located in the following cellular components:
    • cell projection
    • cytoplasm
    • cytoskeleton
    • nucleus

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References

1. Ferrante MI et al. (2006) Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet, 38:112-7. (PubMed:16311594)
2. Singla V et al. (2010) Ofd1, a human disease gene, regulates the length and distal structure of centrioles. Dev Cell, 18:410-24. (PubMed:20230748)

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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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