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HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [ Homo sapiens (human) ]

Gene ID: 3091, updated on 23-Oct-2014
Official Symbol
HIF1Aprovided by HGNC
Official Full Name
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)provided by HGNC
Primary source
HGNC:HGNC:4910
See related
Ensembl:ENSG00000100644; HPRD:04517; 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
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]
See HIF1A in Epigenomics, MapViewer
Location:
14q23.2
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC101927780 Neighboring gene uncharacterized LOC400221 Neighboring gene HIF1A antisense RNA 1 Neighboring gene HIF1A antisense RNA 2 Neighboring gene small nuclear RNA activating complex, polypeptide 1, 43kDa Neighboring gene cytochrome c oxidase subunit IV isoform 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp90 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
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
 
contributes_to sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding transcription factor activity IDA
Inferred from Direct Assay
more info
 
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
 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
axon 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
 
cellular response to hypoxia TAS
Traceable Author Statement
more info
 
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
 
intestinal epithelial cell maturation 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 neuron 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
 
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 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 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 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 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
 
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
 
positive regulation of vascular endothelial growth factor receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
positive regulation vascular endothelial growth factor production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation vascular endothelial growth factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
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
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
transcription factor complex IPI
Inferred from Physical Interaction
more info
PubMed 
Preferred Names
hypoxia-inducible factor 1-alpha
Names
hypoxia-inducible factor 1-alpha
HIF-1-alpha
member of PAS protein 1
ARNT interacting protein
ARNT-interacting protein
member of PAS superfamily 1
hypoxia-inducible factor1alpha
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 isoform I.3
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)

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 

    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 proteins identical to 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 (5) summary
    pfam08778
    Location:811850
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:573606
    HIF-1; Hypoxia-inducible factor-1
    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 ...
    pfam14598
    Location:266367
    PAS_11; PAS domain
  2. NM_001530.3NP_001521.1  hypoxia-inducible factor 1-alpha isoform 1

    See proteins identical to 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/TrEMBL
    D0VY79
    UniProtKB/Swiss-Prot
    Q16665
    Related
    ENSP00000338018, OTTHUMP00000179061, ENST00000337138, OTTHUMT00000276977
    Conserved Domains (5) summary
    pfam08778
    Location:787826
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:549582
    HIF-1; Hypoxia-inducible factor-1
    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 ...
    pfam14598
    Location:242343
    PAS_11; PAS domain
  3. NM_181054.2NP_851397.1  hypoxia-inducible factor 1-alpha isoform 2

    See proteins identical to 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 (4) summary
    pfam11413
    Location:549582
    HIF-1; Hypoxia-inducible factor-1
    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 ...
    pfam14598
    Location:242343
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    42326005..42378869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

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