TSHZ1 Gene Summary [Human]
This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
Details
| Type | Protein Coding |
| Official Symbol | TSHZ1 |
| Official Name | teashirt zinc finger homeobox 1 [Source:HGNC Symbol;Acc:HGNC:10669] |
| Ensembl ID | ENSG00000179981 |
| Bio databases IDs | |
| Aliases | teashirt zinc finger homeobox 1 |
| Synonyms | 5730407I04Rik, CAA, D18Bwg1409e, Mtsh1, NY-CO-33, SDCCAG33, serologically defined colon cancer antigen 33, teashirt1, teashirt zinc finger family member 1, teashirt zinc finger homeobox 1, TSH1 |
| 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 TSHZ1 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 factor activity, sequence-specific DNA binding
- transcription regulator
- protein binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- congenital aural atresia
- dyspnea
- aphagia
- hypoplasia
- right colon cancer
- global developmental delay with intellectual disability
- colon carcinoma
- colon epithelial cancer
- oral squamous cell carcinoma
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSHZ1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- soft palate development
- anterior/posterior pattern specification
- middle ear morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- metal ion binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity