Format

Send to:

Choose Destination

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

Gene ID: 3091, updated on 25-Oct-2020

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
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

Genomic context

See HIF1A in Genome Data Viewer
Location:
14q23.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (61695513..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 HIF1A antisense RNA 1 Neighboring gene HIF1A antisense RNA 3 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association with select biomarker traits in the Framingham Heart Study.
GeneReviews: Not available

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
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 regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region 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 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 binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
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
 
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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pri-miRNA transcription by RNA polymerase II 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 
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 chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
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-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor complex IPI
Inferred from Physical Interaction
more info
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)

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_001243084.1NP_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
    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_001530.4NP_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, ENST00000337138.9
    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_181054.3NP_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, ENST00000323441.10
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    61695513..61748259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center