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QuickView for TBS (gene)


Gene Symbol:
SALL1 Homo sapiens Homo sapiens
Full name:
spalt like transcription factor 1
Synonyms:
HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, sal-like protein 1, epididymis secretory protein Li 89, zinc finger protein 794, zinc finger protein SALL1, zinc finger protein Spalt-1
Genomic Location:
Chr 16: 49727387-49742684
Description:
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.
Orthologs:
Mus musculus Rattus norvegicus D. melanogaster Macaca mulatta Gallus gallus Pan troglodytes Canis lupus familiaris Bos taurus Danio rerio
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
GATTGGY_NFY_Q6_01 OCT1_07 MAZR_01 CEBPA_01 DR3_Q4 GATA1_01 TTANTCA_UNKNOWN MZF1_01 ZIC1_01 TGGNNNNNNKCCAR_UNKNOWN
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 16
16q12.1


Transcripts Names
NM_002968
NM_001127892
Protein Names
Q99881
Q9P1R0
Q9NSC2
Q9NSC3



GO Molecular Function

sequence-specific DNA binding | beta-catenin binding | transcription regulatory region DNA binding | RNA polymerase II transcription factor activity, sequence-specific DNA binding | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | cation binding | proximal promoter sequence-specific DNA binding | nucleic acid binding | hydrolase activity | protein deacetylase activity | catalytic activity | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | histone deacetylase activity | RNA polymerase II regulatory region DNA binding | DNA binding | sequence-specific double-stranded DNA binding | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | ion binding | organic cyclic compound binding | transcription regulatory region sequence-specific DNA binding | protein binding | RNA polymerase II proximal promoter sequence-specific DNA binding | double-stranded DNA binding | DNA-binding transcription factor activity | RNA polymerase II regulatory region sequence-specific DNA binding | transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | deacetylase activity | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | metal ion binding | heterocyclic compound binding

GO Biological Process

RNA metabolic process | brain development | limb development | olfactory bulb interneuron differentiation | positive regulation of macromolecule biosynthetic process | developmental process involved in reproduction | morphogenesis of an epithelium | somatic stem cell population maintenance | gonad development | negative regulation of cellular process | RNA polymerase II transcription factor activity, sequence-specific DNA binding | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | negative regulation of RNA biosynthetic process | embryonic appendage morphogenesis | histone modification | cell differentiation | nervous system development | histone deacetylation | neurogenesis | generation of neurons | positive regulation of cellular biosynthetic process | cellular process | epithelial tube morphogenesis | chromatin organization | limb morphogenesis | developmental growth | central nervous system neuron differentiation | reproductive system development | negative regulation of nucleic acid-templated transcription | renal tubule morphogenesis | stem cell population maintenance | branching involved in ureteric bud morphogenesis | positive regulation of nitrogen compound metabolic process | forebrain neuron differentiation | diencephalon development | negative regulation of cellular metabolic process | tissue development | metanephric nephron development | regulation of cellular process | regulation of metabolic process | pituitary gland development | metanephric nephron morphogenesis | organic cyclic compound metabolic process | RNA biosynthetic process | epithelium development | cellular aromatic compound metabolic process | cellular component organization | ureteric bud invasion | urogenital system development | nephron tubule morphogenesis | development of primary sexual characteristics | head development | cranial nerve development | outer ear morphogenesis | embryonic limb morphogenesis | renal vesicle formation | cellular nitrogen compound biosynthetic process | tube morphogenesis | reproduction | cellular nitrogen compound metabolic process | metanephros morphogenesis | negative regulation of metabolic process | positive regulation of RNA biosynthetic process | protein modification process | protein deacetylase activity | cellular biosynthetic process | kidney development | embryo development | macromolecule modification | regulation of nucleic acid-templated transcription | system development | nitrogen compound metabolic process | reproductive process | regulation of signal transduction | ureteric bud development | multicellular organism development | kidney morphogenesis | embryonic digestive tract development | telencephalon development | regulation of gene expression | histone deacetylase activity | kidney epithelium development | positive regulation of cellular metabolic process | animal organ morphogenesis | regulation of nitrogen compound metabolic process | olfactory lobe development | regulation of transcription by RNA polymerase II | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | renal vesicle morphogenesis | biosynthetic process | protein deacetylation | aromatic compound biosynthetic process | cell differentiation involved in kidney development | mesonephric epithelium development | digestive tract development | mesenchymal to epithelial transition involved in metanephros morphogenesis | endocrine system development | mesonephros development | mesenchymal to epithelial transition | sensory organ development | regulation of cellular metabolic process | olfactory bulb development | metanephros development | renal tubule development | cell differentiation involved in metanephros development | positive regulation of signal transduction | heart development | regulation of RNA metabolic process | renal system development | embryonic morphogenesis | nephron development | neuron differentiation | embryonic organ morphogenesis | ureteric bud morphogenesis | ventricular septum development | protein metabolic process | DNA-binding transcription factor activity | cardiac ventricle development | gland development | tissue morphogenesis | olfactory bulb mitral cell layer development | olfactory nerve development | digestive system development | branching morphogenesis of an epithelial tube | anatomical structure development | developmental growth involved in morphogenesis | metanephric renal vesicle morphogenesis | metabolic process | regulation of RNA biosynthetic process | negative regulation of transcription, DNA-templated | embryonic organ development | ear development | adrenal gland development | forebrain generation of neurons | transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | nucleobase-containing compound metabolic process | organic substance metabolic process | maintenance of cell number | negative regulation of biosynthetic process | negative regulation of gene expression | nephron morphogenesis | animal organ development | forebrain development | nerve development | gene expression | regulation of Wnt signaling pathway | transcription, DNA-templated | morphogenesis of a branching epithelium | anatomical structure formation involved in morphogenesis | ureteric bud elongation | inductive cell-cell signaling | regulation of cell communication | covalent chromatin modification | regulation of transcription, DNA-templated | embryonic digit morphogenesis | cellular protein metabolic process | morphogenesis of a branching structure | anatomical structure morphogenesis | cellular macromolecule biosynthetic process | reproductive structure development | renal vesicle development | developmental process | organelle organization | cardiac septum development | cellular protein modification process | negative regulation of transcription by RNA polymerase II | tube development | positive regulation of transcription, DNA-templated | positive regulation of nucleic acid-templated transcription | epithelial cell differentiation | positive regulation of transcription by RNA polymerase II | cardiac chamber development | heterocycle metabolic process | central nervous system development | positive regulation of metabolic process | chromosome organization | positive regulation of Wnt signaling pathway | cellular metabolic process | sex differentiation | developmental induction | circulatory system development | ear morphogenesis | nephron tubule development | positive regulation of signaling | regulation of signaling | mesonephric tubule development | positive regulation of gene expression | macromolecule metabolic process | multicellular organismal process

GO Cellular Component

chromosome | intracellular membrane-bounded organelle | catalytic complex | cell | nuclear lumen | nuclear transcriptional repressor complex | cytoplasm | intracellular organelle | chromocenter | protein-containing complex | histone deacetylase complex | nucleoplasm | chromatin | nuclear chromosome | membrane-bounded organelle | transcriptional repressor complex | heterochromatin | nucleus | organelle | SWI/SNF superfamily-type complex | NuRD complex | membrane-enclosed lumen | nuclear chromatin | ATPase complex | intracellular