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

Gene ID: 3091, updated on 6-Dec-2016
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]
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 uncharacterized LOC101927780 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

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, ...
  • 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...
  • 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
  • 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.
  • 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 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...
  • 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
E-box binding IEA
Inferred from Electronic Annotation
more info
 
Hsp90 protein 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 
protein 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, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor activity, sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
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 core promoter proximal region sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific 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 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 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 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 mitophagy 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 
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 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 speck ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
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, ENST00000539097
    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, OTTHUMP00000179061, ENST00000337138, OTTHUMT00000276977
    Conserved Domains (6) 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
    pfam08778
    Location:789825
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:551581
    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, OTTHUMP00000179062, ENST00000323441, 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 details...Open this link in a new tab

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)
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