HNF1A Gene Summary [Human]
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | HNF1A |
| Official Name | HNF1 homeobox A [Source:HGNC Symbol;Acc:HGNC:11621] |
| Ensembl ID | ENSG00000135100 |
| Bio databases IDs | |
| Aliases | HNF1 homeobox A |
| Synonyms | HNF1, HNF-1-alpha, HNF1 homeobox A, HNF-1-α, HNF4A, IDDM20, LF-B1, MODY3, TCF-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 HNF1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- transcription regulator
- dimerization domain
- DNA binding domain
- nucleic acid binding
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Hepatocyte nuclear factor 1 (HNF-1), N terminus
- double-stranded DNA binding
- Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
- POU-like domain
- protein homodimerization
- homeodomain
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the HNF1A gene in human plays a role, providing insight into its function and relevance in health or disease.
- Acute Myeloid Leukemia Signaling
- Acute Phase Response Signaling
- Basal Cell Carcinoma Signaling
- Colorectal Cancer Metastasis Signaling
- Endocannabinoid Cancer Inhibition Pathway
- Epithelial Adherens Junction Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- FXR/RXR Activation
- Hepatic Cholestasis
- Maturity Onset Diabetes of Young (MODY) Signaling
- Molecular Mechanisms of Cancer
- Mouse Embryonic Stem Cell Pluripotency
- Opioid Signaling Pathway
- Ovarian Cancer Signaling
- PEDF Signaling
- Protein Kinase A Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Role of Macrophages, Fibroblasts and Endothelial Cells in Rheumatoid Arthritis
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
- Role of WNT/GSK-3β Signaling in the Pathogenesis of Influenza
- T Cell Receptor Signaling
- Thyroid Cancer Signaling
- WNT/β-catenin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal clear cell adenocarcinoma
- epithelial cancer
- epithelial neoplasia
- cancer
- neoplasia
- hyperglycemia
- pancreatic epithelial cancer
- retroperitoneal cancer
- abdominal cancer
- liver cancer
role in cell
- expression in
- growth
- binding in
- proliferation
- number
- differentiation
- transcription in
- production in
- migration
- apoptosis
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
- interchromatin granule cluster fractions
- nuclear fraction
- Cytoplasm
- pronucleus
- photoreceptor outer segments
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HNF1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- insulin secretion
- positive regulation of transcription initiation from RNA polymerase II promoter
- positive regulation of transcription, DNA-dependent
- liver development
- glucose homeostasis
- glucose import
- regulation of pronephros size
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- renal glucose absorption
- pancreas development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- macromolecular complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity