SATB1

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]

SATB Homeobox 1

Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity).
Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, 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 (e.g. PML at the MHC-I locus) and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Modulates genes that are essential in the maturation of the immune T-cell CD8SP from thymocytes. Required for the switching of fetal globin species, and beta- and gamma-globin genes regulation during erythroid differentiation. Plays a role in chromatin organization and nuclear architecture during apoptosis. Interacts with the unique region (UR) of cytomegalovirus (CMV). Alu-like motifs and SATB1-binding sites provide a unique chromatin context which seems preferentially targeted by the HIV-1 integration machinery. Moreover, HIV-1 Tat may overcome SATB1-mediated repression of IL2 and IL2RA (interleukin) in T-cells by binding to the same domain than HDAC1. Delineates specific epigenetic modifications at target gene loci, directly up-regulating metastasis-associated genes while down-regulating tumor-suppressor genes. Reprograms chromatin organization and the transcription profiles of breast tumors to promote growth and metastasis. Promotes neuronal differentiation of neural stem/progenitor cells in the adult subventricular zone, possibly by positively regulating the expression of NEUROD1 (By similarity).

Biological Process chromatin organizationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process chromatin remodelingManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Nucleus matrix
Nucleus, PML body
Organized into a cage-like network anchoring loops of heterochromatin and tethering specialized DNA sequences (PubMed:12692553).
When sumoylated, localized in promyelocytic leukemia nuclear bodies (PML NBs) (PubMed:18408014).

Kohlschutter-Tonz syndrome-like (KTZSL):
A disorder characterized by global developmental delay, moderately to severely impaired intellectual development, poor or absent speech, delayed motor skills, and early-onset epilepsy in many patients. Most affected individuals have feeding difficulties, poor overall growth, dysmorphic facial features, and significant dental anomalies resembling amelogenesis imperfecta. More variable features include visual defects, behavioral abnormalities, and non-specific involvement of other organ systems. KTZSL transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity.
Developmental delay with dysmorphic facies and dental anomalies (DEFDA):
A disorder characterized by mild global developmental delay, impaired intellectual development, walking by 2 to 3 years, and slow language acquisition.The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, abnormal dentition and non-specific visual defects. DEFDA transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity.

Sumoylated. Sumoylation promotes cleavage by caspases.
Phosphorylated by PKC. Acetylated by PCAF. Phosphorylated form interacts with HDAC1, but unphosphorylated form interacts with PCAF. DNA binding properties are activated by phosphorylation and inactivated by acetylation. In opposition, gene expression is down-regulated by phosphorylation but up-regulated by acetylation.
Cleaved at Asp-254 by caspase-3 and caspase-6 during T-cell apoptosis in thymus and during B-cell stimulation. The cleaved forms cannot dimerize and lose transcription regulation function because of impaired DNA and chromatin association.