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Gene Ontology Classifications
Symbol
Name
ID
Nr5a1
nuclear receptor subfamily 5, group A, member 1
MGI:1346833

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

GO curators for mouse genes have assigned the following annotations to the gene product of Nr5a1. (This text reflects annotations as of Thursday, July 24, 2014.)
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 is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Babu PS et al. (2002) Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1. Endocrinology, 143:665-73. (PubMed:11796523)
  2. Bland ML et al. (2004) Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function. Mol Endocrinol, 18:941-52. (PubMed:14726490)
  3. Buaas FW et al. (2009) The transcription co-factor CITED2 functions during sex determination and early gonad development. Hum Mol Genet, 18:2989-3001. (PubMed:19457926)
  4. Gut P et al. (2005) Lack of an adrenal cortex in Sf1 mutant mice is compatible with the generation and differentiation of chromaffin cells. Development, 132:4611-9. (PubMed:16176945)
  5. Jacobs SB et al. (2003) Nuclear factor Y and steroidogenic factor 1 physically and functionally interact to contribute to cell-specific expression of the mouse Follicle-stimulating hormone-beta gene. Mol Endocrinol, 17:1470-83. (PubMed:12730328)
  6. Jeyasuria P et al. (2004) Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function. Mol Endocrinol, 18:1610-9. (PubMed:15118069)
  7. Kashimada K et al. (2011) Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice. FASEB J, 25:3561-9. (PubMed:21757499)
  8. Kawabe K et al. (1999) Dax-1 as one of the target genes of Ad4BP/SF-1. Mol Endocrinol, 13:1267-84. (PubMed:10446902)
  9. Kawajiri K et al. (2003) Role of the LXXLL-Motif and Activation Function 2 Domain in Subcellular Localization of Dax-1 (Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Congenita Critical Region on the X Chromosome, Gene 1). Mol Endocrinol, 17:994-1004. (PubMed:12610109)
  10. Kennell JA et al. (2003) T-cell factor 4N (TCF-4N), a novel isoform of mouse TCF-4, synergizes with beta-catenin to coactivate C/EBPalpha and steroidogenic factor 1 transcription factors. Mol Cell Biol, 23:5366-75. (PubMed:12861022)
  11. Lalli E et al. (2000) Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol Cell Biol, 20:4910-21. (PubMed:10848616)
  12. Lee FY et al. (2011) Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development. Dev Cell, 21:315-27. (PubMed:21820362)
  13. Lee HJ et al. (2009) Novel markers of early ovarian pre-granulosa cells are expressed in an Sry-like pattern. Dev Dyn, 238:812-25. (PubMed:19301398)
  14. Park SY et al. (2005) Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development, 132:2415-23. (PubMed:15829514)
  15. Pulichino AM et al. (2003) Tpit determines alternate fates during pituitary cell differentiation. Genes Dev, 17:738-47. (PubMed:12651892)
  16. Schepers G et al. (2003) SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. J Biol Chem, 278:28101-8. (PubMed:12732652)
  17. Wilson MJ et al. (2005) The transcription factors steroidogenic factor-1 and SOX9 regulate expression of Vanin-1 during mouse testis development. J Biol Chem, 280:5917-23. (PubMed:15590666)
  18. Winnay JN et al. (2006) Adrenocorticotropic hormone-mediated signaling cascades coordinate a cyclic pattern of steroidogenic factor 1-dependent transcriptional activation. Mol Endocrinol, 20:147-66. (PubMed:16109736)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory