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

GO curators for mouse genes have assigned the following annotations to the gene product of Gtf2ird1. (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.] The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

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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 Gtf2ird1
  • participates in the following biological processes:
    • regulation of transcription, DNA-dependent ^[1]
  • performs the following molecular functions:
    • sequence-specific DNA binding transcription factor activity ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Gtf2ird1
  • participates in the following biological processes:
    • embryo development ^[2]

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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 Gtf2ird1:
  • is located in the following cellular components:
    • cytoplasm
    • nucleus

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gtf2ird1 indicates that it:
  • participates in the following biological processes:
    • multicellular organismal development
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • DNA binding

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References

1. Bayarsaihan D et al. (2000) Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains. Proc Natl Acad Sci U S A, 97:7342-7. (PubMed:10861001)
2. Enkhmandakh B et al. (2009) Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci U S A, 106:181-6. (PubMed:19109438)

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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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