ZNF148 Gene Summary [Human]
The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]
Details
| Type | Protein Coding |
| Official Symbol | ZNF148 |
| Official Name | zinc finger protein 148 [Source:HGNC Symbol;Acc:HGNC:12933] |
| Ensembl ID | ENSG00000163848 |
| Bio databases IDs | |
| Aliases | zinc finger protein 148 |
| Synonyms | 2210405J08Rik, BERF-1, BFCOL1, GDACCF, HT-BETA, HT-β, Mt-beta, Mt-β, pHZ-52, ZBP-89, ZFP148, zinc finger protein 148, β enolase repressor factor 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 ZNF148 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- DNA binding domain
- nucleic acid binding
- double-stranded DNA binding
- Zinc-finger double domain
- protein binding
- zinc finger domain
- sequence-specific DNA binding
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- colorectal cancer
- non-insulin-dependent diabetes mellitus
- global developmental delay, absent or hypoplastic corpus callosum and dysmorphic facies
- hereditary disorder
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
- uterine leiomyoma
- leiomyomatosis
role in cell
- expression in
- proliferation
- apoptosis
- cell death
- quantity
- differentiation
- activation in
- generation in
- growth
- migration
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
- nuclear fraction
- Golgi Apparatus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZNF148 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
- negative regulation of gene expression
- cellular defense response
- negative regulation of transcription, DNA-dependent
- gamete generation
- positive regulation of transcription from RNA polymerase II promoter
- substantia nigra development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- Golgi apparatus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription