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

GO curators for mouse genes have assigned the following annotations to the gene product of Irf6. (This text reflects annotations as of Wednesday, January 23, 2013.)

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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 member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

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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 Irf6
  • participates in the following biological processes:
    • positive regulation of transcription, DNA-dependent ^[2]
  • performs the following molecular functions:
    • DNA binding ^[2]
    • sequence-specific DNA binding transcription factor activity ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Irf6
  • participates in the following biological processes:
    • cell development ^[3]
    • keratinocyte differentiation ^{[1, 3]}
    • keratinocyte proliferation ^{[1, 3]}
    • skin development ^{[1, 3]}
• Researchers have inferred, based on genetic interactions, that the gene product of Irf6
  • participates in the following biological processes:
    • keratinocyte proliferation based on interactions with Sfn ^[3]
    • negative regulation of cell proliferation based on interactions with Sfn ^[3]
    • skin development based on interactions with Sfn ^[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 Irf6:
  • participates in the following biological processes:
    • cell cycle arrest
    • negative regulation of cell proliferation
  • is located in the following cellular components:
    • cytoplasm

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Summary text based on GO annotations supported by structural data

• Irf6 encodes a protein or proteins that contain the following InterPro domains: Interferon regulatory factor DNA-binding domain, Interferon regulatory factor, conserved site, Interferon regulatory factor-3, SMAD domain-like, SMAD/FHA domain, Winged helix-turn-helix transcription repressor DNA-binding, indicating that the gene product:
  • participates in the following biological processes:
    • regulation of transcription, DNA-dependent
  • performs the following molecular functions:
    • regulatory region DNA binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Irf6 indicates that it:
  • participates in the following biological processes:
    • cell differentiation
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • is located in the following cellular components:
    • nucleus

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References

1. Ingraham CR et al. (2006) Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet, 38:1335-40. (PubMed:17041601)
2. Little HJ et al. (2009) Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. Hum Mol Genet, 18:535-45. (PubMed:19036739)
3. Richardson RJ et al. (2006) Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet, 38:1329-34. (PubMed:17041603)

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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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