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

    Gene ID: 3091, updated on 17-Jun-2024

    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
    Try the new Gene table
    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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (61695513..61748258)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55902080..55954826)
    105.20220307 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: 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?

    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

    Gene Ontology Provided by GOA

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

    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_001243084.2NP_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:117172
      PAS; PAS domain
      cd19727
      Location:37107
      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: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
      C0LZJ3, Q16665, Q53XP6, Q96PT9, Q9UPB1
      UniProtKB/TrEMBL
      B2R617, 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/TrEMBL
      B4DL76
      Related
      ENSP00000323326.6, ENST00000323441.10
      Conserved Domains (4) summary
      smart00091
      Location:93148
      PAS; PAS domain
      pfam08447
      Location:254339
      PAS_3; PAS fold
      cd19727
      Location:1383
      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:554581
      HIF-1; Hypoxia-inducible factor-1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)