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

    Gene ID: 3091, updated on 5-Jan-2025

    Summary

    Official Symbol
    HIF1Aprovided by HGNC
    Official Full Name
    hypoxia inducible factor 1 subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:4910
    See related
    Ensembl:ENSG00000100644 MIM:603348; AllianceGenome:HGNC:4910
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See HIF1A in Genome Data Viewer
    Location:
    14q23.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (61695513..61748258)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55902080..55954826)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (62162231..62214976)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein kinase C eta Neighboring gene uncharacterized LOC105370525 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:62004017-62005216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62018627-62019137 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62019138-62019647 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:62028305-62029504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:62034963-62035464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:62035465-62035964 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:62036356-62036548 Neighboring gene long intergenic non-protein coding RNA 1303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:62074093-62074843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:62074844-62075593 Neighboring gene long intergenic non-protein coding RNA 3033 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:62076042-62076653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8499 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62145572-62146072 Neighboring gene Sharpr-MPRA regulatory region 861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5824 Neighboring gene HIF1A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5825 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:62221703-62222902 Neighboring gene HIF1A antisense RNA 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:62223301-62223886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62227132-62227876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62227877-62228620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62228621-62229364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62229365-62230108 Neighboring gene HIF1A antisense RNA 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62298837-62299336 Neighboring gene small nuclear RNA activating complex polypeptide 1 Neighboring gene cytochrome c oxidase subunit 4I1 pseudogene 1 Neighboring gene synaptotagmin 16

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (17 hits/1309 screens)

    EBI GWAS Catalog

    Description
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 30
    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription factor activity PubMed 
    contributes_to DNA-binding transcription factor activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables DNA-binding transcription repressor activity PubMed 
    enables E-box binding  
    enables Hsp90 protein binding PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding PubMed 
    enables cis-regulatory region sequence-specific DNA binding PubMed 
    enables enzyme binding PubMed 
    enables histone deacetylase binding  
    enables nuclear receptor binding PubMed 
    enables p53 binding PubMed 
    enables p53 binding PubMed 
    enables p53 binding PubMed 
    enables protein binding PubMed 
    enables protein domain specific binding PubMed 
    enables protein heterodimerization activity PubMed 
    enables protein kinase binding PubMed 
    contributes_to sequence-specific DNA binding PubMed 
    enables transcription coactivator binding PubMed 
    enables transcription regulator activator activity PubMed 
    enables ubiquitin protein ligase binding PubMed 
    enables ubiquitin protein ligase binding PubMed 
    Items 1 - 25 of 30
    Items 1 - 25 of 98
    Process Evidence Code Pubs
    involved_in B-1 B cell homeostasis  
    involved_in TOR signaling  
    involved_in angiogenesis  
    involved_in axonal transport of mitochondrion PubMed 
    involved_in bone mineralization  
    involved_in cardiac ventricle morphogenesis  
    involved_in cellular response to hypoxia  
    involved_in cellular response to hypoxia PubMed 
    involved_in cellular response to hypoxia PubMed 
    involved_in cellular response to hypoxia PubMed 
    involved_in cellular response to interleukin-1 PubMed 
    involved_in cellular response to oxidative stress PubMed 
    involved_in cellular response to virus PubMed 
    involved_in cerebral cortex development  
    involved_in chondrocyte differentiation  
    involved_in collagen metabolic process PubMed 
    involved_in connective tissue replacement involved in inflammatory response wound healing PubMed 
    involved_in digestive tract morphogenesis  
    involved_in dopaminergic neuron differentiation  
    involved_in elastin metabolic process PubMed 
    involved_in embryonic hemopoiesis  
    involved_in embryonic placenta development  
    involved_in epithelial cell differentiation involved in mammary gland alveolus development  
    involved_in epithelial to mesenchymal transition PubMed 
    involved_in glandular epithelial cell maturation  
    involved_in heart looping  
    involved_in hemoglobin biosynthetic process  
    involved_in hypoxia-inducible factor-1alpha signaling pathway  
    involved_in insulin secretion involved in cellular response to glucose stimulus  
    involved_in intestinal epithelial cell maturation  
    involved_in intracellular glucose homeostasis PubMed 
    involved_in intracellular iron ion homeostasis  
    involved_in intracellular oxygen homeostasis PubMed 
    involved_in iris morphogenesis  
    involved_in lactate metabolic process  
    involved_in lactation  
    involved_in mesenchymal cell apoptotic process  
    involved_in muscle cell cellular homeostasis  
    involved_in negative regulation of TOR signaling  
    involved_in negative regulation of bone mineralization  
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of growth  
    involved_in negative regulation of mesenchymal cell apoptotic process  
    involved_in negative regulation of miRNA transcription PubMed 
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process  
    involved_in negative regulation of thymocyte apoptotic process  
    involved_in neural crest cell migration  
    involved_in neural fold elevation formation  
    involved_in neuroblast proliferation  
    involved_in neuron apoptotic process  
    involved_in outflow tract morphogenesis  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of angiogenesis PubMed 
    involved_in positive regulation of angiogenesis PubMed 
    involved_in positive regulation of blood vessel endothelial cell migration PubMed 
    involved_in positive regulation of chemokine production PubMed 
    acts_upstream_of positive regulation of chemokine-mediated signaling pathway PubMed 
    involved_in positive regulation of cytokine production involved in inflammatory response PubMed 
    involved_in positive regulation of endothelial cell proliferation PubMed 
    involved_in positive regulation of epithelial cell migration PubMed 
    involved_in positive regulation of erythrocyte differentiation PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of gene expression PubMed 
    acts_upstream_of positive regulation of glycolytic process PubMed 
    involved_in positive regulation of hormone biosynthetic process PubMed 
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus  
    involved_in positive regulation of miRNA transcription PubMed 
    involved_in positive regulation of miRNA transcription PubMed 
    involved_in positive regulation of mitophagy  
    involved_in positive regulation of neuroblast proliferation  
    involved_in positive regulation of nitric-oxide synthase activity PubMed 
    acts_upstream_of positive regulation of signaling receptor activity PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of vascular endothelial growth factor production PubMed 
    involved_in positive regulation of vascular endothelial growth factor production PubMed 
    involved_in positive regulation of vascular endothelial growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription PubMed 
    involved_in regulation of DNA-templated transcription PubMed 
    involved_in regulation of aerobic respiration  
    involved_in regulation of gene expression PubMed 
    involved_in regulation of glycolytic process PubMed 
    involved_in regulation of protein neddylation PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in regulation of transforming growth factor beta2 production PubMed 
    acts_upstream_of_or_within response to hypoxia PubMed 
    involved_in response to hypoxia PubMed 
    involved_in response to hypoxia PubMed 
    involved_in response to iron ion PubMed 
    involved_in response to muscle activity  
    involved_in response to reactive oxygen species PubMed 
    involved_in retina vasculature development in camera-type eye  
    involved_in signal transduction PubMed 
    involved_in vascular endothelial growth factor production PubMed 
    involved_in visual learning  
    Items 1 - 25 of 98
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex PubMed 
    located_in axon cytoplasm  
    located_in chromatin PubMed 
    located_in chromatin  
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in cytosol  
    located_in euchromatin  
    located_in motile cilium  
    located_in nuclear body  
    located_in nuclear speck  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    part_of protein-containing complex PubMed 

    General protein information

    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
    hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
    hypoxia-inducible factor1alpha
    member of PAS protein 1
    member of PAS superfamily 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5113..57858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243084.2 → NP_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
      UniProtKB/TrEMBL
      B2R617
      Related
      ENSP00000437955.1, ENST00000539097.2
      Conserved Domains (5) summary
      smart00091
      Location:117 → 172
      PAS; PAS domain
      cd19727
      Location:37 → 107
      bHLH-PAS_HIF1a_PASD8; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins
      pfam08447
      Location:278 → 363
      PAS_3; PAS fold
      pfam08778
      Location:813 → 849
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:575 → 605
      HIF-1; Hypoxia-inducible factor-1
    2. NM_001530.4 → NP_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
      C0LZJ3, Q16665, Q53XP6, Q96PT9, Q9UPB1
      UniProtKB/TrEMBL
      B2R617, D0VY79
      Related
      ENSP00000338018.4, ENST00000337138.9
      Conserved Domains (5) summary
      smart00091
      Location:93 → 148
      PAS; PAS domain
      cd00083
      Location:15 → 68
      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:789 → 825
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam08447
      Location:254 → 339
      PAS_3; PAS fold
      pfam11413
      Location:552 → 581
      HIF-1; Hypoxia-inducible factor-1
    3. NM_181054.3 → NP_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/TrEMBL
      B4DL76
      Related
      ENSP00000323326.6, ENST00000323441.10
      Conserved Domains (4) summary
      smart00091
      Location:93 → 148
      PAS; PAS domain
      pfam08447
      Location:254 → 339
      PAS_3; PAS fold
      cd19727
      Location:13 → 83
      bHLH-PAS_HIF1a_PASD8; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins
      pfam11413
      Location:554 → 581
      HIF-1; Hypoxia-inducible factor-1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      61695513..61748258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      55902080..55954826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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