ID:SATB2_HUMAN DESCRIPTION: RecName: Full=DNA-binding protein SATB2; AltName: Full=Special AT-rich sequence-binding protein 2; FUNCTION: Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper- layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation. SUBUNIT: Interacts with ATF4 and RUNX2; resulting in enhanced DNA binding and transactivation by these transcription factors (By similarity). Interacts with PIAS1. SUBCELLULAR LOCATION: Nucleus matrix. TISSUE SPECIFICITY: High expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus. PTM: Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity. DISEASE: Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). DISEASE: Defects in SATB2 are a cause of cleft palate isolated (CPI) [MIM:119540]. A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, mental retardation, and osteoporosis. DISEASE: Note=A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22). SIMILARITY: Belongs to the CUT homeobox family. SIMILARITY: Contains 2 CUT DNA-binding domains. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=BAA82986.1; Type=Erroneous initiation;
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 Q9UPW6
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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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001764 neuron migration GO:0002076 osteoblast development GO:0006325 chromatin organization GO:0006338 chromatin remodeling GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0009880 embryonic pattern specification GO:0010468 regulation of gene expression GO:0021902 commitment of neuronal cell to specific neuron type in forebrain GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048704 embryonic skeletal system morphogenesis GO:0051216 cartilage development GO:0060021 palate development GO:0071310 cellular response to organic substance
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
