USF1 Gene Summary [Human]
This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]
Details
| Type | Protein Coding |
| Official Symbol | USF1 |
| Official Name | upstream transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:12593] |
| Ensembl ID | ENSG00000158773 |
| Bio databases IDs | |
| Aliases | upstream transcription factor 1 |
| Synonyms | bHLHb11, FCHL, FCHL1, HYPLIP1, MLTF, MLTFI, UEF, upstream transcription factor 1, USF |
| 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 USF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription activation domain
- transcription factor binding
- leucine zipper domain
- identical protein binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- basic helix-loop-helix-leucine zipper domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- basic domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- protein kinase binding
- DNA binding domain
- basic Helix Loop Helix (bHLH) domain superfamily
- enzyme binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- binding protein
- double-stranded DNA binding
- helix loop helix domain
- protein homodimerization
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the USF1 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
- epithelial cancer
- cardiovascular disorder
- liver cancer
- hepatocellular carcinoma
- familial combined hyperlipidemia
- organismal death
- metabolic syndrome X
- coronary disease
- seizures
- early missed abortion
role in cell
- expression in
- activation in
- proliferation
- phosphorylation in
- transcription in
- production in
- differentiation
- migration
- epithelial-mesenchymal transition
- regulation
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human USF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of fibrinolysis
- lipid homeostasis
- response to UV
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter by glucose
- regulation of transcription from RNA polymerase II promoter
- cellular response to insulin stimulus
- regulation of transcription from RNA polymerase II promoter by glucose
- response to hypoxia
- late viral mRNA transcription
- glucose homeostasis
- carbon catabolite regulation of transcription
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- Golgi apparatus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- identical protein binding
- protein binding
- protein homodimerization activity
- histone deacetylase binding
- protein heterodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- enzyme binding
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity