TSC22D1 Gene Summary [Human]
This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | TSC22D1 |
| Official Name | TSC22 domain family member 1 [Source:HGNC Symbol;Acc:HGNC:16826] |
| Ensembl ID | ENSG00000102804 |
| Bio databases IDs | |
| Aliases | TSC22 domain family member 1 |
| Synonyms | Cerebral protein-2, Egr5, Gm19597, HUCEP-2, LOC100912462, Ptg-2, TGFB1I4, Tilz1b, Transforming growth factor beta 1 induced transcript 4, Transforming growth factor beta stimulated clone 22, Transforming growth factor β 1 induced transcript 4, Transforming growth factor β stimulated clone 22, TS22A, Tsc, TSC-22, TSC22 domain family member 1, TSC22 domain family, member 1 |
| 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 TSC22D1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- transcription co-activator
- DNA binding domain
- nucleic acid binding
- TSC-22/dip/bun family
- double-stranded DNA binding
- ZIP_TSC22D-like
- protein binding
- sequence-specific DNA binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diffuse large B-cell lymphoma
- neoplasia
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- myocardial fibrosis
- idiopathic scoliosis
- antineutrophil cytoplasmic antibody-associated vasculitis
role in cell
- apoptosis
- function
- expression in
- proliferation
- growth
- degradation in
- phosphorylation in
- oncogene-induced senescence
- binding in
- transcription in
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
- Cytoplasm
- Plasma Membrane
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSC22D1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription, DNA-dependent
- negative regulation of apoptotic process
- positive regulation of cell proliferation
- positive regulation of apoptotic process
- positive regulation of programmed cell death
- transcription from RNA polymerase II promoter
- negative regulation of programmed cell death
- positive regulation of transforming growth factor beta receptor signaling pathway
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- mitochondrion
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- transcription coactivator activity