Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    HIF1A hypoxia inducible factor 1 alpha subunit [ Homo sapiens (human) ]

    Gene ID: 3091, updated on 21-Jan-2018
    Official Symbol
    HIF1Aprovided by HGNC
    Official Full Name
    hypoxia inducible factor 1 alpha subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4910
    See related
    Ensembl:ENSG00000100644 MIM:603348; Vega:OTTHUMG00000140344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIF1; MOP1; PASD8; HIF-1A; bHLHe78; HIF-1alpha; HIF1-ALPHA; HIF-1-alpha
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 164.2), gall bladder (RPKM 101.1) and 24 other tissues See more
    Orthologs
    Location:
    14q23.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (61695401..61748259)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (62162118..62214977)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein kinase C eta Neighboring gene uncharacterized LOC105370525 Neighboring gene long intergenic non-protein coding RNA 1303 Neighboring gene uncharacterized LOC400221 Neighboring gene uncharacterized LOC105370526 Neighboring gene HIF1A antisense RNA 1 Neighboring gene HIF1A antisense RNA 2 Neighboring gene small nuclear RNA activating complex polypeptide 1 Neighboring gene cytochrome c oxidase subunit 4I1 pseudogene 1 Neighboring gene synaptotagmin 16

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Reactive oxygen species generation and activation of HIF-1alpha plays a critical role in HIV-1 gp120-mediated upregulation of PDGF-BB in human primary pulmonary arterial endothelial cells PubMed
    Vpr vpr Activation of the HIV-1 LTR by HIV-1 Vpr is HIF-1alpha dependent PubMed
    vpr HIV-1 Vpr induces HIF-1alpha expression, which involves the presence of Sp1 and the p65 subunit of NFkappaB transcription factors PubMed

    Go to the HIV-1, Human Interaction Database

    • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
      AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Angiogenesis, organism-specific biosystem (from WikiPathways)
      Angiogenesis, organism-specific biosystemThis pathway is a concise and simplified version of the basic proteins involved in angiogenesis. The proces is regulated by hyopoxia, which results in the transcription of eg. VEGF1, FGF2, PDGFbeta, ...
    • Autophagy - animal, organism-specific biosystem (from KEGG)
      Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - animal, conserved biosystem (from KEGG)
      Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
      BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) and BMAL1:NPAS2 (ARNTL:NPAS2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et...
    • Cellular response to hypoxia, organism-specific biosystem (from REACTOME)
      Cellular response to hypoxia, organism-specific biosystemOxygen plays a central role in the functioning of human cells: it is both essential for normal metabolism and toxic. To begin the annotation of stress responses in Reactome, we have annotated one asp...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
      Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
    • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
      Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
    • Choline metabolism in cancer, organism-specific biosystem (from KEGG)
      Choline metabolism in cancer, organism-specific biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
    • Choline metabolism in cancer, conserved biosystem (from KEGG)
      Choline metabolism in cancer, conserved biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
    • Circadian Clock, organism-specific biosystem (from REACTOME)
      Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
      HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
      Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...
    • Hypoxic and oxygen homeostasis regulation of HIF-1-alpha, organism-specific biosystem (from Pathway Interaction Database)
      Hypoxic and oxygen homeostasis regulation of HIF-1-alpha, organism-specific biosystem
      Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
    • LncRNA-mediated mechanisms of therapeutic resistance, organism-specific biosystem (from WikiPathways)
      LncRNA-mediated mechanisms of therapeutic resistance, organism-specific biosystemLncRNA-mediated mechanisms of therapeutic resistance. Mechanisms of tumor cell resistance to chemotherapy or hypoxia involving lncRNA include modulation of drug transporters and elimination, survival...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitophagy - animal, organism-specific biosystem (from KEGG)
      Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • Mitophagy - animal, conserved biosystem (from KEGG)
      Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • NAD metabolism, sirtuins and aging, organism-specific biosystem (from WikiPathways)
      NAD metabolism, sirtuins and aging, organism-specific biosystemA model for DNA damage, inflammation, NAD+, and aging. Two key events, the activation of PARP by DNA damage and the decreased NAMPT expression associated with inflammation, lead to decreased SIRT1 an...
    • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
      NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
    • Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystem (from REACTOME)
      Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystemHIF1AN (FIH, FIH-1) forms a homodimer that hydroxylates an asparagine residue on HIF1A and HIF2A (Hewitson et al. 2002, Lando et al. 2002, Metzen et al. 2003, Lancaster et al. 2004). The hydroxylatio...
    • Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystem (from REACTOME)
      Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystemHIF-alpha subunits, comprising HIF1A (Bruick and McKnight 2001, Ivan et al. 2001, Jaakkola et al. 2001), HIF2A (Percy et al. 2008, Furlow et al. 2009), and HIF3A (Maynard et al. 2003), are hydroxylat...
    • PDGFR-beta signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      PDGFR-beta signaling pathway, organism-specific biosystem
      PDGFR-beta signaling pathway
    • PTK6 Expression, organism-specific biosystem (from REACTOME)
      PTK6 Expression, organism-specific biosystemLevels of PTK6 increase under hypoxic conditions due to direct transcriptional regulation of PTK6 gene by hypoxia inducible transcription factors (HIFs) (Regan Anderson et al. 2013). PTK6 protein lev...
    • PTK6 promotes HIF1A stabilization, organism-specific biosystem (from REACTOME)
      PTK6 promotes HIF1A stabilization, organism-specific biosystemHBEGF-stimulated formation of EGFR heterodimers with GPNMB triggers PTK6-mediated phosphorylation and stabilization of the hypoxia inducible factor 1 alpha (HIF1A) under normoxic conditions. This pro...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Regulation of Hypoxia-inducible Factor (HIF) by oxygen, organism-specific biosystem (from REACTOME)
      Regulation of Hypoxia-inducible Factor (HIF) by oxygen, organism-specific biosystemIn the presence of oxygen members of the transcription factor family HIF-alpha, comprising HIF1A, HIF2A (EPAS1), and HIF3A, are hydroxylated on proline residues by PHD1 (EGLN2), PHD2 (EGLN1), and PHD...
    • Regulation of gene expression by Hypoxia-inducible Factor, organism-specific biosystem (from REACTOME)
      Regulation of gene expression by Hypoxia-inducible Factor, organism-specific biosystemHIF-alpha (HIF1A, HIF2A (EPAS1), HIF3A) is translocated to the nucleus, possibly by two pathways: importin 4/7 (Chachami et al. 2009) and importin alpha/beta (Depping et al. 2008). Once in the nucleu...
    • Renal cell carcinoma, organism-specific biosystem (from KEGG)
      Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Renal cell carcinoma, conserved biosystem (from KEGG)
      Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling by PTK6, organism-specific biosystem (from REACTOME)
      Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
    • Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem
      Signaling events mediated by VEGFR1 and VEGFR2
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    • VEGFR1 specific signals, organism-specific biosystem (from Pathway Interaction Database)
      VEGFR1 specific signals, organism-specific biosystem
      VEGFR1 specific signals
    • miR-148a/miR-31/FIH1/HIF1α-Notch signaling in glioblastoma, organism-specific biosystem (from WikiPathways)
      miR-148a/miR-31/FIH1/HIF1α-Notch signaling in glioblastoma, organism-specific biosystemmiR-148a and miR-31 target the factor inhibiting hypoxia (FIH1) to promote downstream HIF1? and Notch signaling
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    E-box binding IEA
    Inferred from Electronic Annotation
    more info
     
    Hsp90 protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone acetyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, RNA polymerase II transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B-1 B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    axonal transport of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac ventricle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    collagen metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    connective tissue replacement involved in inflammatory response wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    dopaminergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    elastin metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation involved in mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    hemoglobin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    hypoxia-inducible factor-1alpha signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    intestinal epithelial cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    iris morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    lactate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lactation IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA transcription from RNA polymerase II promoter IC
    Inferred by Curator
    more info
    PubMed 
    muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of TOR signaling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    neural fold elevation formation IEA
    Inferred from Electronic Annotation
    more info
     
    outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of angiogenesis IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of autophagy of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of chemokine production TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of chemokine-mediated signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of epithelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of erythrocyte differentiation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of glycolytic process IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of hormone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of macroautophagy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of nitric-oxide synthase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of pri-miRNA transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of receptor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of vascular endothelial growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of vascular endothelial growth factor receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of aerobic respiration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
    Traceable Author Statement
    more info
     
    regulation of transcription from RNA polymerase II promoter in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to iron ion IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    retina vasculature development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vascular endothelial growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    RNA polymerase II transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Preferred Names
    hypoxia-inducible factor 1-alpha
    Names
    ARNT interacting protein
    PAS domain-containing protein 8
    basic-helix-loop-helix-PAS protein MOP1
    class E basic helix-loop-helix protein 78
    hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
    hypoxia-inducible factor 1 alpha isoform I.3
    hypoxia-inducible factor1alpha
    member of PAS protein 1
    member of PAS superfamily 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029606.1 RefSeqGene

      Range
      5001..57859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243084.1NP_001230013.1  hypoxia-inducible factor 1-alpha isoform 3

      See identical proteins and their annotated locations for NP_001230013.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses an alternate in-frame acceptor splice site at the next exon compared to variant 1. This results in a longer isoform (3, also known as isoform I.3) with a distinct N-terminus compared to isoform 1. This isoform is transcriptionally active, and is upregulated in activated human T lymphocytes (PMID:18638657).
      Source sequence(s)
      BC012527, CN264320, FJ790247, X72726
      Consensus CDS
      CCDS58324.1
      UniProtKB/Swiss-Prot
      Q16665
      Related
      ENSP00000437955.1, ENST00000539097.2
      Conserved Domains (6) summary
      smart00091
      Location:117172
      PAS; PAS domain
      cd00083
      Location:3992
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      cd00130
      Location:263362
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam08447
      Location:278363
      PAS_3; PAS fold
      pfam08778
      Location:813849
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:575605
      HIF-1; Hypoxia-inducible factor-1
    2. NM_001530.3NP_001521.1  hypoxia-inducible factor 1-alpha isoform 1

      See identical proteins and their annotated locations for NP_001521.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      BC012527, CN264295, DC344032
      Consensus CDS
      CCDS9753.1
      UniProtKB/Swiss-Prot
      Q16665
      UniProtKB/TrEMBL
      D0VY79
      Related
      ENSP00000338018.4, OTTHUMP00000179061, ENST00000337138.8, OTTHUMT00000276977
      Conserved Domains (5) summary
      smart00091
      Location:93148
      PAS; PAS domain
      cd00083
      Location:1568
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam08778
      Location:789825
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam08447
      Location:254339
      PAS_3; PAS fold
      pfam11413
      Location:552581
      HIF-1; Hypoxia-inducible factor-1
    3. NM_181054.2NP_851397.1  hypoxia-inducible factor 1-alpha isoform 2

      See identical proteins and their annotated locations for NP_851397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the penultimate coding exon compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB073325, BC012527, CN264295, DC344032
      Consensus CDS
      CCDS9754.1
      UniProtKB/Swiss-Prot
      Q16665
      Related
      ENSP00000323326.6, OTTHUMP00000179062, ENST00000323441.10, OTTHUMT00000276978
      Conserved Domains (5) summary
      smart00091
      Location:93148
      PAS; PAS domain
      cd00083
      Location:1568
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      cd00130
      Location:239338
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam08447
      Location:254339
      PAS_3; PAS fold
      pfam11413
      Location:551581
      HIF-1; Hypoxia-inducible factor-1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      61695401..61748259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      62101569..62154420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center