SALL4 Gene Summary [Human]
This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | SALL4 |
| Official Name | spalt like transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:15924] |
| Ensembl ID | ENSG00000101115 |
| Bio databases IDs | |
| Aliases | spalt like transcription factor 4 |
| Synonyms | 5730441M18Rik, C330011P20Rik, DRRS, HSAL4, IVIC, spalt-like transcription factor 4, Tex20, ZNF797 |
| 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 SALL4 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
- Drought induced 19 protein (Di19), zinc-binding
- Zinc-finger double domain
- transcription factor binding
- protein binding
- C2H2-type zinc finger
Pathways
Biological processes and signaling networks where the SALL4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- liver cancer
- epithelial cancer
- Okihiro syndrome
- hypoplasia
- neuroblastoma
- neuroblastoma formation
- yolk sac neoplasm
- germ cell neoplasia
- primary acute myeloid leukemia
role in cell
- expression in
- apoptosis
- activation in
- cell death
- cell viability
- proliferation
- phosphorylation in
- number
- migration
- invasiveness
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
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SALL4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- embryonic limb morphogenesis
- neural tube closure
- inner cell mass cell proliferation
- ventricular septum development
- somatic stem cell maintenance
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- heterochromatin
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity