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

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

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Summary from NCBI RefSeq

This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [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 Mitf
  • participates in the following biological processes:
    • positive regulation of transcription from RNA polymerase II promoter ^[3]
    • positive regulation of transcription, DNA-dependent ^[6]
    • regulation of apoptotic process ^[9]
    • regulation of cell proliferation ^[9]
    • regulation of transcription, DNA-dependent ^[9]
    • Wnt receptor signaling pathway ^[9]
  • performs the following molecular functions:
    • chromatin binding ^[2]
    • DNA binding ^[6]
    • RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity ^[2]
    • sequence-specific DNA binding transcription factor activity ^{[6, 9]}
  • is located in the following cellular components:
    • nucleus ^[9]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Mitf
  • participates in the following biological processes:
    • bone remodeling ^[4]
    • cell differentiation ^[7]
    • cell fate commitment ^[1]
    • melanocyte differentiation ^{[4, 5]}
    • negative regulation of apoptotic process ^[4]
    • osteoclast differentiation ^[4]
    • pigmentation ^{[4, 5]}
    • regulation of gene expression ^[4]
    • regulation of osteoclast differentiation ^[8]
• Researchers have inferred, based on genetic interactions, that the gene product of Mitf
  • participates in the following biological processes:
    • camera-type eye development based on interactions with Vsx2 ^[1]
    • melanocyte differentiation based on interactions with Bcl2 ^[4]
    • pigmentation based on interactions with Bcl2 ^[4]
    • positive regulation of transcription from RNA polymerase II promoter based on interactions with Sox10 ^[2]
    • regulation of osteoclast differentiation based on interactions with Tfe3 ^[8]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Mitf
  • is located in the following cellular components:
    • nucleus ^[6]

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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 Mitf:
  • participates in the following biological processes:
    • positive regulation of transcription from RNA polymerase II promoter
    • positive regulation of transcription, DNA-dependent
    • protein complex assembly
  • performs the following molecular functions:
    • RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
    • sequence-specific DNA binding
  • is located in the following cellular components:
    • protein complex

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Summary text based on GO annotations supported by structural data

• Mitf encodes a protein or proteins that contain the following InterPro domains: Basic helix-loop-helix leucine zipper transcription factor, Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE, Helix-loop-helix domain, indicating that the gene product:
  • performs the following molecular functions:
    • protein dimerization activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mitf indicates that it:
  • participates in the following biological processes:
    • multicellular organismal development
    • transcription, DNA-dependent

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References

1. Horsford DJ et al. (2005) Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development, 132:177-87. (PubMed:15576400)
2. Lang D et al. (2005) Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature, 433:884-7. (PubMed:15729346)
3. Matsumoto M et al. (2004) Essential role of p38 mitogen-activated protein kinase in cathepsin K gene expression during osteoclastogenesis through association of NFATc1 and PU.1. J Biol Chem, 279:45969-79. (PubMed:15304486)
4. McGill GG et al. (2002) Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell, 109:707-18. (PubMed:12086670)
5. Moore KJ et al. (1990) Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics, 125:421-30. (PubMed:2379821)
6. Murakami M et al. (2003) Transcriptional activation of mouse mast cell protease-9 by microphthalmia-associated transcription factor. Biochem Biophys Res Commun, 311:4-10. (PubMed:14575687)
7. Opdecamp K et al. (1997) Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development, 124:2377-86. (PubMed:9199364)
8. Steingrimsson E et al. (2002) Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci U S A, 99:4477-82. (PubMed:11930005)
9. Widlund HR et al. (2002) Beta-catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor. J Cell Biol, 158:1079-87. (PubMed:12235125)

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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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