SALL1 Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SALL1 |
| Official Name | spalt like transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:10524] |
| Ensembl ID | ENSG00000103449 |
| Bio databases IDs | |
| Aliases | spalt like transcription factor 1 |
| Synonyms | HEL-S-89, HSAL1, Msal-3, SAL1, Sal-like 1, spalt-like transcription factor 1, TBS, ZNF794 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SALL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
- nucleic acid binding
- beta-catenin binding
- Zinc-finger double-stranded RNA-binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- C2H2-type zinc finger
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- zinc finger
- binding protein
- double-stranded DNA binding
- Zinc-finger double domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- Townes-Brocks syndrome
- congenital anomalies of kidney and urinary tract
- goiter
- agenesis
- dysgenesis
- myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
- Wilms tumor
- Wilms tumorigenesis
role in cell
- proliferation
- apoptosis
- differentiation
- size
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- heterochromatin
- Cytoplasm
- chromosome
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SALL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- olfactory bulb mitral cell layer development
- kidney epithelium development
- positive regulation of transcription from RNA polymerase II promoter
- olfactory nerve development
- ureteric bud invasion
- embryonic digit morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- embryonic digestive tract development
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- kidney development
- adrenal gland development
- olfactory bulb interneuron differentiation
- limb development
- ventricular septum development
- regulation of transcription from RNA polymerase II promoter
- pituitary gland development
- inductive cell-cell signaling
- mesenchymal to epithelial transition involved in metanephros morphogenesis
- gonad development
- ureteric bud development
- branching involved in ureteric bud morphogenesis
- positive regulation of Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- heterochromatin
- cytoplasm
- chromocenter
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- beta-catenin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity