HIF1A Gene Summary [Human]
This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]
Details
| Type | Processed Transcript |
| Official Symbol | HIF1A |
| Official Name | hypoxia inducible factor 1 subunit alpha [Source:HGNC Symbol;Acc:HGNC:4910] |
| Ensembl ID | ENSG00000100644 |
| Bio databases IDs | |
| Aliases | hypoxia inducible factor 1 subunit alpha, PAS domain-containing protein 8, Class E basic helix-loop-helix protein 78, Member of PAS protein 1 |
| Synonyms | bHLHe78, HIF-1, HIF1-ALPHA, HIF-1-α, HIF-alpha, Hypoxia inducible factor 1 alpha subunit, hypoxia inducible factor 1, alpha subunit, hypoxia inducible factor 1 subunit alpha, hypoxia inducible factor 1 subunit α, Hypoxia inducible factor 1 α subunit, hypoxia inducible factor 1, α subunit, MOP1, PASD8 |
| 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 HIF1A 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
- heat shock protein binding
- transcription activation domain
- transcription factor binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- PAS B-subdomain
- carboxy-terminal activation region
- helix-loop-helix domain
- PAS A-subdomain
- ubiquitin protein ligase binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- ligand-dependent nuclear receptor interactor
- dimerization domain
- Hypoxia-inducible factor-1
- protein kinase binding
- DNA binding domain
- nucleic acid binding
- NFkB activation domain
- PAS
- basic Helix Loop Helix (bHLH) domain superfamily
- enzyme binding
- histone deacetylase binding
- protein domain specific binding
- protein binding
- p53 binding
- basic helix loop helix/Per Arnt Sim domain
- sequence-specific DNA binding
- PAS fold
- DNA binding
- hydroxylation site
- binding protein
- STP box
- PAS domain
- double-stranded DNA binding
- helix loop helix domain
- heterodimerization domain
- oxygen-dependent degradation domain
- Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
- CAD domain
- pVHL-binding sequence
- transcription factor activity
- amino terminal activation domain
- protein heterodimerization
- HIF-1 alpha C terminal transactivation domain
Pathways
Biological processes and signaling networks where the HIF1A gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- Adrenomedullin signaling pathway
- Apelin Adipocyte Signaling Pathway
- Apelin Cardiomyocyte Signaling Pathway
- Apelin Endothelial Signaling Pathway
- Autophagy
- Endocannabinoid Cancer Inhibition Pathway
- Erythropoietin Signaling
- HIF1α Signaling
- Hypoxia Signaling in the Cardiovascular System
- IL-10 Signaling
- ILK Signaling
- Iron homeostasis signaling pathway
- Molecular Mechanisms of Cancer
- Osteoarthritis Pathway
- p53 Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Renal Cell Carcinoma Signaling
- Sirtuin Signaling Pathway
- Th17 Activation Pathway
- TR/RXR Activation
- VEGF Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- neoplasia
- pancreatic adenocarcinoma
- breast cancer
- hypertension
- hepatocellular carcinoma
- cardiovascular disorder
- obesity
- fibrosis
- experimental autoimmune encephalomyelitis
role in cell
- expression in
- growth
- phosphorylation in
- apoptosis
- production in
- formation in
- accumulation in
- phagocytosis
- phagocytosis by
- quantity
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
- motile cilia
- Cytoplasm
- intracellular space
- microtubules
- cytosol
- nucleoplasm
- nuclear bodies
- nuclear speckles
- chromatin
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HIF1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of growth
- retina vasculature development in camera-type eye
- negative regulation of mesenchymal cell apoptotic process
- embryonic hemopoiesis
- visual learning
- lactate metabolic process
- positive regulation of cytokine production involved in inflammatory response
- positive regulation of erythrocyte differentiation
- positive regulation of angiogenesis
- cellular iron ion homeostasis
- negative regulation of bone mineralization
- neuroblast proliferation
- response to hypoxia
- positive regulation of nitric-oxide synthase activity
- cardiac ventricle morphogenesis
- negative regulation of thymocyte apoptotic process
- positive regulation of transcription, DNA-dependent
- positive regulation of vascular endothelial growth factor receptor signaling pathway
- heart looping
- oxygen homeostasis
- cellular response to hypoxia
- positive regulation of chemokine production
- negative regulation of TOR signaling cascade
- vascular endothelial growth factor production
- neuron apoptotic process
- regulation of protein neddylation
- positive regulation vascular endothelial growth factor production
- collagen metabolic process
- positive regulation of neuroblast proliferation
- hemoglobin biosynthetic process
- neural fold elevation formation
- cerebral cortex development
- response to reactive oxygen species
- negative regulation of gene expression
- connective tissue replacement involved in inflammatory response wound healing
- cellular glucose homeostasis
- neural crest cell migration
- positive regulation of gene expression
- regulation of gene expression
- epithelial to mesenchymal transition
- muscle cell homeostasis
- epithelial cell differentiation involved in mammary gland alveolus development
- outflow tract morphogenesis
- chondrocyte differentiation
- lactation
- regulation of transforming growth factor beta2 production
- positive regulation of transcription from RNA polymerase II promoter
- embryonic placenta development
- mesenchymal cell apoptotic process
- elastin metabolic process
- positive regulation of chemokine-mediated signaling pathway
- angiogenesis
- B-1 B cell homeostasis
- response to iron ion
- positive regulation of epithelial cell migration
- positive regulation of insulin secretion involved in cellular response to glucose stimulus
- negative regulation of reactive oxygen species metabolic process
- response to muscle activity
- intestinal epithelial cell maturation
- insulin secretion involved in cellular response to glucose stimulus
- bone mineralization
- signal transduction
- positive regulation of receptor activity
- glandular epithelial cell maturation
- positive regulation of hormone biosynthetic process
- regulation of transcription, DNA-dependent
- TOR signaling cascade
- digestive tract morphogenesis
- regulation of glycolysis
- positive regulation of blood vessel endothelial cell migration
- regulation of transcription from RNA polymerase II promoter
- dopaminergic neuron differentiation
- cellular response to interleukin-1
- cellular response to oxidative stress
- axon transport of mitochondrion
- iris morphogenesis
- positive regulation of endothelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- euchromatin
- motile cilium
- nuclear body
- cytoplasm
- nuclear speck
- cytosol
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- ligand-dependent nuclear receptor binding
- protein domain specific binding
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription coactivator binding
- sequence-specific DNA binding transcription factor activity
- p53 binding
- ubiquitin protein ligase binding
- protein binding
- protein heterodimerization activity
- Hsp90 protein binding
- enzyme binding
- E-box binding