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

GO curators for mouse genes have assigned the following annotations to the gene product of Sox3. (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 SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [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 Sox3
  • performs the following molecular functions:
    • DNA binding ^[1]
    • RNA polymerase II core promoter sequence-specific DNA binding ^[5]
    • RNA polymerase II transcription corepressor activity ^[5]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Sox3
  • participates in the following biological processes:
    • face development ^[4]
    • forebrain development ^[3]
    • hypothalamus development ^[3]
    • organ morphogenesis ^[3]
    • pituitary gland development ^[3]
    • sensory organ development ^[4]
    • sex determination ^[6]
    • spermatid differentiation ^[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 Sox3:
  • participates in the following biological processes:
    • sex determination

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Sox3 indicates that it:
  • participates in the following biological processes:
    • multicellular organismal development
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • is located in the following cellular components:
    • nucleus

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References

1. Collignon J et al. (1996) A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2 Development, 122:509-20. (PubMed:8625802)
2. Raverot G et al. (2005) Sox3 expression in undifferentiated spermatogonia is required for the progression of spermatogenesis. Dev Biol, 283:215-25. (PubMed:15893302)
3. Rizzoti K et al. (2004) SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat Genet, 36:247-55. (PubMed:14981518)
4. Rizzoti K et al. (2007) SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis. Development, 134:3437-48. (PubMed:17728342)
5. Shen JH et al. (2002) Regulation of the orphan nuclear receptor steroidogenic factor 1 by Sox proteins. Mol Endocrinol, 16:529-40. (PubMed:11875113)
6. Sutton E et al. (2011) Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest, 121:328-41. (PubMed:21183788)

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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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