ID:SOX3_HUMAN DESCRIPTION: RecName: Full=Transcription factor SOX-3; FUNCTION: Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). SUBUNIT: Interacts with SOX2 and FGFR1 (By similarity). SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in SOX3 are a cause of panhypopituitarism X- linked (PHPX) [MIM:312000]. Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. DISEASE: Defects in SOX3 are the cause of mental retardation X- linked with isolated growth hormone deficiency (MRXGH) [MIM:300123]. DISEASE: Defects in SOX3 are the cause of 46,XX sex reversal type 3 (SRXX3) [MIM:300833]. A condition in which male gonads develop in a genetic female (female to male sex reversal). Note=Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation. SIMILARITY: Contains 1 HMG box DNA-binding domain. CAUTION: Was originally (PubMed:1614875) termed SOX-9. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P41225
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001106 RNA polymerase II transcription corepressor activity GO:0003677 DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007417 central nervous system development GO:0007423 sensory organ development GO:0007530 sex determination GO:0021854 hypothalamus development GO:0021983 pituitary gland development GO:0045665 negative regulation of neuron differentiation GO:0060324 face development GO:1903507 negative regulation of nucleic acid-templated transcription
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
