SALL3 Gene Summary [Human]
This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | SALL3 |
| Official Name | spalt like transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:10527] |
| Ensembl ID | ENSG00000256463 |
| Bio databases IDs | |
| Aliases | spalt like transcription factor 3 |
| Synonyms | B130022O04Rik, Msal, Msal-1, Sal, Salt, Spalt, spalt-like transcription factor 3, ZNF796 |
| 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 SALL3 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
- zinc finger
- transcription regulator
- Zinc-finger double-stranded RNA-binding
- Zinc-finger double domain
- C2H2-type zinc finger
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Burkitt lymphoma
- diabetic nephropathy
- metabolic syndrome X
- renal cancer
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- clear cell sarcoma of the kidney
- soft tissue sarcoma cancer
- myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
role in cell
- differentiation
- binding in
- methylation in
- extension
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SALL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity