HIF1A

HIF1A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1H2K, 1H2L, 1H2M, 1L3E, 1L8C, 1LM8, 1LQB, 2ILM, 3HQR, 3HQU, 4AJY, 4H6J
Identifiers
Aliases	HIF1A, HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78, hypoxia inducible factor 1 alpha subunit, hypoxia inducible factor 1 subunit alpha, HIF-1α
External IDs	OMIM: 603348; MGI: 106918; HomoloGene: 1171; GeneCards: HIF1A; OMA:HIF1A - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q23.2 Start 61,695,513 bp[1] End 61,748,259 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 C3|12 31.99 cM Start 73,948,149 bp[2] End 73,994,304 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell corpus epididymis caput epididymis tibia cartilage tissue gingival epithelium visceral pleura tail of epididymis seminal vesicula epithelium of nasopharynx Top expressed in pineal gland retina stria vascularis cumulus cell epithelium of lens iris Gonadal ridge calvaria abdominal wall vestibular sensory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein dimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific histone deacetylase binding transcription factor binding enzyme binding protein binding histone acetyltransferase binding protein kinase binding Hsp90 protein binding sequence-specific DNA binding DNA binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding ubiquitin protein ligase binding protein heterodimerization activity E-box binding p53 binding protein domain specific binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component cytoplasm cytosol nucleus nuclear speck motile cilium transcription regulator complex RNA polymerase II transcription regulator complex axon cytoplasm nucleoplasm nuclear body protein-containing complex Biological process negative regulation of neuron apoptotic process B-1 B cell homeostasis regulation of transforming growth factor beta2 production muscle cell cellular homeostasis outflow tract morphogenesis negative regulation of ossification heart looping negative regulation of TOR signaling blood vessel development hemoglobin biosynthetic process angiogenesis positive regulation of chemokine-mediated signaling pathway positive regulation of insulin secretion involved in cellular response to glucose stimulus positive regulation of hormone biosynthetic process negative regulation of mesenchymal cell apoptotic process regulation of aerobic respiration positive regulation of neuroblast proliferation dopaminergic neuron differentiation lactate metabolic process regulation of transcription, DNA-templated blood vessel morphogenesis positive regulation of erythrocyte differentiation glucose homeostasis vascular endothelial growth factor production regulation of thymocyte apoptotic process positive regulation of epithelial cell migration negative regulation of thymocyte apoptotic process transcription, DNA-templated positive regulation of transcription, DNA-templated axonal transport of mitochondrion positive regulation of macroautophagy cartilage development positive regulation of nitric-oxide synthase activity regulation of transcription from RNA polymerase II promoter in response to hypoxia lactation negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway positive regulation of pri-miRNA transcription by RNA polymerase II digestive tract morphogenesis cell differentiation neural fold elevation formation positive regulation of autophagy retina vasculature development in camera-type eye collagen metabolic process embryonic placenta development negative regulation of apoptotic process positive regulation of angiogenesis regulation of glycolytic process epithelial to mesenchymal transition cerebral cortex development regulation of gene expression positive regulation of chemokine production intestinal epithelial cell maturation regulation of catalytic activity positive regulation of autophagy of mitochondrion cardiac ventricle morphogenesis response to muscle activity epithelial cell differentiation involved in mammary gland alveolus development visual learning positive regulation of vascular endothelial growth factor receptor signaling pathway negative regulation of bone mineralization negative regulation of growth response to hypoxia positive regulation of endothelial cell proliferation regulation of transcription from RNA polymerase II promoter in response to oxidative stress iris morphogenesis mRNA transcription by RNA polymerase II hypoxia-inducible factor-1alpha signaling pathway vasculature development regulation of cell population proliferation neural crest cell migration embryonic hemopoiesis connective tissue replacement involved in inflammatory response wound healing positive regulation of transcription from RNA polymerase II promoter in response to hypoxia negative regulation of reactive oxygen species metabolic process positive regulation of vascular endothelial growth factor production elastin metabolic process positive regulation of glycolytic process oxygen homeostasis signal transduction positive regulation of transcription by RNA polymerase II cellular iron ion homeostasis camera-type eye morphogenesis cellular response to hypoxia cellular response to interleukin-1 transcription by RNA polymerase II protein deubiquitination post-translational protein modification response to iron ion negative regulation of gene expression positive regulation of blood vessel endothelial cell migration positive regulation of gene expression cytokine-mediated signaling pathway regulation of transcription by RNA polymerase II protein ubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3091 15251 Ensembl ENSG00000100644 ENSMUSG00000021109 UniProt Q16665 Q61221 RefSeq (mRNA) NM_181054 NM_001243084 NM_001530 NM_010431 NM_001313919 NM_001313920 RefSeq (protein) NP_001230013 NP_001521 NP_851397 NP_001521.1 NP_001300848 NP_001300849 NP_034561 Location (UCSC) Chr 14: 61.7 – 61.75 Mb Chr 12: 73.95 – 73.99 Mb PubMed search [3] [4]
Wikidata
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Hypoxia-inducible factor 1-alpha, also known as HIF-1-alpha, is a subunit of a heterodimeric transcription factor hypoxia-inducible factor 1 (HIF-1) that is encoded by the HIF1A gene.^[5][6][7] The Nobel Prize in Physiology or Medicine 2019 was awarded for the discovery of HIF.

HIF1A is a basic helix-loop-helix PAS domain containing protein, and is considered as the master transcriptional regulator of cellular and developmental response to hypoxia.^[8][9] The dysregulation and overexpression of HIF1A by either hypoxia or genetic alternations have been heavily implicated in cancer biology, as well as a number of other pathophysiologies, specifically in areas of vascularization and angiogenesis, energy metabolism, cell survival, and tumor invasion.^[7][10] The presence of HIF1A in a hypoxic environment is required to push forward normal placental development in early gestation.^[11] Two other alternative transcripts encoding different isoforms have been identified.^[7]