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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HIF1A Gene

protein-coding   GIFtS: 71
GCID: GC14P062162

hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix...

 Explore 241 diseases affiliated with
HIF1A via our new
 Human Malady Compendium 
Biological research products
for HIF1A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hypoxia Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-Helix
Transcription Factor)1 2
     PAS Domain-Containing Protein 82 3
MOP11 2 3 5     HIF-1A2
PASD81 2 3     HIF1-ALPHA2
BHLHe781     ARNT Interacting Protein2
HIF-1alpha1 2     Hypoxia-Inducible Factor 1 Alpha Isoform I.32
HIF11 2     Hypoxia-Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-Helix Transcription
Factor)2
Basic-Helix-Loop-Helix-PAS Protein MOP12 3     Hypoxia-Inducible Factor 1-Alpha2
Class E Basic Helix-Loop-Helix Protein 782 3     Hypoxia-Inducible Factor1alpha2
Member Of PAS Protein 12 3     Member Of PAS Superfamily 12
HIF-1-Alpha1     BHLHE783
ARNT-Interacting Protein2 3     HIF1-Alpha1

External Ids:    HGNC: 49101   Entrez Gene: 30912   Ensembl: ENSG000001006447   OMIM: 6033485   UniProtKB: Q166653   

Export aliases for HIF1A gene to outside databases

Previous GC identifers: GC14P059488 GC14P055956 GC14P060152 GC14P061231 GC14P042326


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HIF1A:
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)

UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665
Function: Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic
conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic
enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery
or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor
angiogenesis and pathophysiology of ischemic disease. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia
response element (HRE) of target gene promoters. Activation requires recruitment of transcriptional coactivators such
as CREBPB and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory
protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal
distribution and transport of mitochondria in neurons during hypoxia

Gene Wiki entry for HIF1A


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIF1A gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIF1A promoter sequence
   Search SABiosciences Chromatin IP Primers for HIF1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIF1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q23.2   Ensembl cytogenetic band:  14q23.2   HGNC cytogenetic band: 14q23.2

HIF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIF1A gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P062162:  view genomic region     (about GC identifiers)

Start:
62,162,119 bp from pter      End:
62,214,977 bp from pter
Size:
52,859 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665 (See protein sequence)
Recommended Name: Hypoxia-inducible factor 1-alpha  
Size: 826 amino acids; 92670 Da
Subunit: Interacts with the HIF1A beta/ARNT subunit; heterodimerization is required for DNA binding. Interacts with
COPS5; the interaction increases the transcriptional activity of HIF1A through increased stability (By similarity).
Interacts with EP300 (via TAZ-type 1 domains); the interaction is stimulated in response to hypoxia and inhibited by
CITED2. Interacts with CREBBP (via TAZ-type 1 domains). Interacts with NCOA1, NCOA2, APEX and HSP90. Interacts
(hydroxylated within the ODD domain) with VHLL (via beta domain); the interaction, leads to polyubiquitination and
subsequent HIF1A proteasomal degradation. During hypoxia, sumoylated HIF1A also binds VHL; the interaction promotes
the ubiquitination of HIF1A. Interacts with SENP1; the interaction desumoylates HIF1A resulting in stabilization and
activation of transcription. Interacts (Via the ODD domain) with ARD1A; the interaction appears not to acetylate HIF1A
nor have any affect on protein stability, during hypoxia. Interacts with RWDD3; the interaction enhances HIF1A
sumoylation. Interacts with TSGA10 (By similarity). Interacts with RORA (via the DNA binding domain); the interaction
enhances HIF1A transcription under hypoxia through increasing protein stability. Interaction with PSMA7 inhibits the
transactivation activity of HIF1A under both normoxic and hypoxia-mimicking conditions. Interacts with USP20.
Interacts with GNB2L1/RACK1; promotes HIF1A ubiquitination and proteasome-mediated degradation. Interacts (via
N-terminus) with USP19
Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic in normoxia, nuclear translocation in response to hypoxia.
Colocalizes with SUMO1 in the nucleus, under hypoxia
6/13 PDB 3D structures from and Proteopedia for HIF1A (see all 13):
1D7G (3D)        1H2K (3D)        1H2L (3D)        1H2M (3D)        1L3E (3D)        1L8C (3D)    
Secondary accessions: C0LZJ3 Q53XP6 Q96PT9 Q9UPB1
Alternative splicing: 3 isoforms:  Q16665-1   Q16665-2   Q16665-3   (Up-regulated in peripheral T lymphocytes after T-cell receptor stimulation. Highest expression in peripheral blood leukocytes and thymus)

Explore the universe of human proteins at neXtProt for HIF1A: NX_Q16665

Post-translational modifications:

  • In normoxia, is hydroxylated on Pro-402 and Pro-564 in the oxygen-dependent degradation domain (ODD) by EGLN1/PHD1 and
  • EGLN2/PHD2. EGLN3/PHD3 has also been shown to hydroxylate Pro-564. The hydroxylated prolines promote interaction with
    VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Deubiquitinated by USP20. Under hypoxia,
    proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization1
  • In normoxia, is hydroxylated on Asn-803 by HIF1AN, thus abrogating interaction with CREBBP and EP300 and preventing
  • transcriptional activation. This hydroxylation is inhibited by the Cu/Zn-chelator, Clioquinol1
  • S-nitrosylation of Cys-800 may be responsible for increased recruitment of p300 coactivator necessary for
  • transcriptional activity of HIF-1 complex1
  • Requires phosphorylation for DNA-binding. Phosphorylation at Ser-247 by CSNK1D/CK1 represses kinase activity and
  • impairs ARNT binding. Phosphorylation by GSK3-beta and PLK3 promote degradation by the proteasome1
  • Sumoylated; with SUMO1 under hypoxia. Sumoylation is enhanced through interaction with RWDD3. Desumoylation by SENP1
  • leads to increased HIF1A stability and transriptional activity (By similarity)1
  • Ubiquitinated; in normoxia, following hydroxylation and interaction with VHL. Lys-532 appears to be the principal site
  • of ubiquitination. Clioquinol, the Cu/Zn-chelator, inhibits ubiquitination through preventing hydroxylation at Asn-8031
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16665

  • HIF1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001230013.1  NP_001521.1  NP_851397.1  

    ENSEMBL proteins: 
     ENSP00000338018   ENSP00000378446   ENSP00000323326   ENSP00000451696   ENSP00000437955  
    Reactome Protein details: Q16665
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate (see all 2): HIF1A
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    GenScript Custom Purified and Recombinant Proteins Services for HIF1A
    Novus Biologicals HIF1A Proteins
    Novus Biologicals HIF1A Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HIF1A
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IPI9576906
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--


    HIF1A for ontologies           About GeneDecksing



    HIF1A Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HIF1A
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    OriGene Antibodies (see all 4): HIF1A
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    GenScript Custom Superior Antibodies Services for HIF1A
    Novus Biologicals HIF1A Antibodies
    Abcam antibodies for HIF1A 
    Browse Antibodies at Uscn
    ThermoFisher Antibody for HIF1A

    Assay Products for HIF1A: 
    EMD Millipore Kits and Assays for the Analysis of HIF1A
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems ELISAs for HIF1A (HIF-1 alpha)         (see all)
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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HIF1A for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR001321 HIF-1_alpha
     IPR014887 HIF-1_TAD_C
     IPR013655 PAS_fold_3
     IPR021537 HIF_alpha_subunit
     IPR001610 PAC

    Graphical View of Domain Structure for InterPro Entry Q16665

    ProtoNet protein and cluster: Q16665

    4 Blocks protein families:
    IPB000014 PAS domain
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB001321 Hypoxia-inducible factor-1 alpha signature
    IPB013655 PAS fold-3


    UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665
    Domain: Contains two independent C-terminal transactivation domains, NTAD and CTAD, which function synergistically.
    Their transcriptional activity is repressed by an intervening inhibitory domain (ID)
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665
    Function: Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic
    conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic
    enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery
    or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor
    angiogenesis and pathophysiology of ischemic disease. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia
    response element (HRE) of target gene promoters. Activation requires recruitment of transcriptional coactivators such
    as CREBPB and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory
    protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal
    distribution and transport of mitochondria in neurons during hypoxia
    Induction: Under reduced oxygen tension. Induced also by various receptor-mediated factors such as growth factors,
    cytokines, and circulatory factors such as PDGF, EGF, FGF2, IGF2, TGFB1, HGF, TNF, IL1B/interleukin-1 beta,
    angiotensin-2 and thrombin. However, this induction is less intense than that stimulated by hypoxia. Repressed by
    HIPK2 and LIMD1

         Genatlas biochemistry entry for HIF1A:
    hypoxia-inducible factor 1,alpha subunit,complexing with HIF2A and HIF2B (ANRT) for activation of genes involved in
    metabolism,angiogenesis,erythropoiesis and glycolysis through the recruitement of the CBP/p300 co-activator,rapidly
    degraded by proteasome under normoxic conditions,binding to VHL,involved (essential) in cardiovascular development and
    systemic 02 homeostasis

    miRNA
    Products:
        
    miRTarBase miRNAs that target HIF1A:
    hsa-mir-107 (MIRT004487), hsa-mir-20a (MIRT000002), hsa-mir-20b (MIRT000498), hsa-mir-519c-3p (MIRT000496), hsa-mir-424 (MIRT005926)

    OriGene 3'-UTR Clone (see all 2): HIF1A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HIF1A
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate HIF1A (see all 42):
    hsa-miR-549 hsa-miR-3152-3p hsa-miR-106a hsa-miR-16-1* hsa-miR-3653 hsa-miR-519a hsa-miR-3171 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidHIF1A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HIF1A (see all 7)
    OriGene shRNA RFP: HIF1A
    OriGene siRNA: HIF1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HIF1A

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HIF1A (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HIF1A (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): HIF1A (NM_001530)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIF1A 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1A

    Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000988protein binding transcription factor activity IDA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS15261140
    GO:0003704specific RNA polymerase II transcription factor activity ----


    HIF1A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HIF1A:
     Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-outs for HIF1A: Hif1atm1.1Stom Hif1atm1Jhu Hif1atm1Mcs Hif1atm1Rsjo Hif1atm1Kats Hif1atm1Pec
         15/23 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Hif1a) (see all 23):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    HIF1A for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/24 super-pathways (see all 24About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    8/9 pathways (see all 9)
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant1.00
    FBXW7 Mutants and NOTCH1 in Cancer1.00
    Signaling by NOTCH1 PEST Domain Mutants in Cancer1.00
    Signaling by NOTCH11.00
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer1.00
    Signaling by NOTCH0.77
    Signaling by NOTCH1 in Cancer1.00
    NOTCH1 Intracellular Domain Regulates Transcription0.65
    2Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha1.00
    Nuclear Export of Ubiquitinated HIF-alpha:VHL:EloB/C:CUL2:RBX1 Complex0.67
    Cellular response to hypoxia0.72
    Destruction of Ubiquitinated HIF-alpha by the Proteasome0.67
    Cellular responses to stress0.72
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha0.27
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    3Development_CNTF receptor signaling
    Transcription Receptor-mediated HIF regulation0.43
    Development Leptin signaling via JAK/STAT and MAPK cascades0.25
    Transcription_Receptor-mediated HIF regulation0.43
    mTOR signaling pathway0.22
    Development_Leptin signaling via JAK/STAT and MAPK cascades0.25
    4Regulation of Gene Expression by Hypoxia-inducible Factor
    Regulation of Gene Expression by Hypoxia-inducible Factor1.00
    Formation of HIF:CBP:p300 Complex at Promoters0.67
    5Translocation of HIF-alpha from Cytosol to Nucleus
    Translocation of HIF-alpha from Cytosol to Nucleus1.00
    Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for HIF1A
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Transcription Receptor-mediated HIF regulation
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HIF1A
        ILK Signaling
    Molecular Mechanisms of Cancer
    p53 Signaling
    HIF1Alpha Pathway
    mTOR Pathway

    2 Cell Signaling Technology (CST) Pathways for HIF1A
        Translational Control
    Angiogenesis

    3 GeneGo (Thomson Reuters) Pathways for HIF1A
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Transcription Ligand-dependent activation of the ESR1/SP pathway
    Transcription Receptor-mediated HIF regulation

    5/10 BioSystems Pathways for HIF1A (see all 10
        SIDS Susceptibility Pathways
    Angiogenesis
    AGE/RAGE pathway
    Adipogenesis
    VEGFR1 specific signals

    5/21        Reactome Pathways for HIF1A (see all 21)
        NOTCH1 Intracellular Domain Regulates Transcription
    Translocation of HIF-alpha from Cytosol to Nucleus
    FBXW7 Mutants and NOTCH1 in Cancer
    Formation of HIF:CBP:p300 Complex at Promoters
    Signaling by NOTCH1 HD Domain Mutants in Cancer


    3         Kegg Pathways  (Kegg details for HIF1A):
        mTOR signaling pathway
    Pathways in cancer
    Renal cell carcinoma


    HIF1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIF1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/393 Interacting proteins for HIF1A (Q166651, 2, 3 ENSP000003380184) via UniProtKB, MINT, STRING, and/or I2D (see all 393)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EP300Q094721, 2, 3, ENSP000002632534EBI-447269,EBI-3908041 MINT-4791660 MINT-4791678 MINT-6802121 MINT-7943730 MINT-6802156 MINT-4652938 MINT-4791632 MINT-7943746 I2D: score=7 STRING: ENSP00000263253
    VHLP403371, 2, 3, ENSP000002564744EBI-447269,EBI-301246 MINT-6543069 MINT-1957453 MINT-1957650 I2D: score=9 STRING: ENSP00000256474
    HIF1ANQ9NWT61, 2, 3, ENSP000002991634EBI-447269,EBI-745632 MINT-6802187 I2D: score=4 STRING: ENSP00000299163
    MTA1Q133302, 3, ENSP000003336334MINT-1957363 MINT-1957385 MINT-1957313 MINT-1957331 MINT-1957284 MINT-1957260 I2D: score=3 STRING: ENSP00000333633
    SP1P080472, 3, ENSP000003293574MINT-3378435 MINT-3378397 MINT-3378454 I2D: score=5 STRING: ENSP00000329357
    About this table

    Gene Ontology (GO): 5/80 biological process terms (GO ID links to tree view) (see all 80):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001568blood vessel development ----
    GO:0001666response to hypoxia IMP12411310
    GO:0001755neural crest cell migration IEA--
    GO:0001837epithelial to mesenchymal transition ISS18037992


    HIF1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HIF1A for compounds           About GeneDecksing

    EMD Millipore small molecules for HIF1A:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for HIF1A

    Browse Tocris compounds for HIF1A

    1 DrugBank Compound for HIF1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE-- --target--10592235

    10/132 Novoseek chemical compound relationships for HIF1A gene (see all 132)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 92.5 2009 15256117 (9), 16964427 (9), 18025805 (9), 20003271 (9) (see all 99)
    cobalt chloride 84.7 46 18715655 (2), 16149050 (2), 18490575 (2), 16109785 (1) (see all 29)
    cocl2 79 70 16489029 (3), 12215445 (3), 17474992 (3), 15525582 (2) (see all 36)
    oxygen 78.4 471 12378005 (4), 15862307 (4), 15967517 (4), 17272744 (4) (see all 99)
    pimonidazole 74.4 24 16456867 (4), 12829158 (4), 17289019 (2), 15623619 (2) (see all 9)
    deferoxamine 69.7 101 18371939 (5), 16527254 (4), 18459142 (4), 15878351 (3) (see all 44)
    ly294002 65.6 46 11585776 (3), 10749120 (1), 11457733 (1), 15623602 (1) (see all 31)
    2-methoxyestradiol 65.5 23 15336552 (3), 19429018 (2), 19809499 (2), 18202195 (1) (see all 12)
    rapamycin 64 99 17230506 (4), 16849522 (3), 19190131 (3), 19002496 (2) (see all 45)
    geldanamycin 62.3 35 16432534 (6), 11980636 (4), 12811834 (3), 16228978 (3) (see all 11)

    Search CenterWatch for drugs/clinical trials and news about HIF1A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HIF1A gene (3 alternative transcripts): 
    NM_001243084.1  NM_001530.3  NM_181054.2  

    Unigene Clusters for HIF1A:

    Hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
    Hs.597216  [show with all ESTs], Hs.719495  [show with all ESTs]
    Unigene Representative Sequences: NM_001530, BF794025
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000557446 ENST00000553999 ENST00000337138(uc010tsc.1 uc001xfq.2 uc001xfr.2)
    ENST00000394997(uc001xfs.2 uc021rua.1) ENST00000323441 ENST00000557538
    ENST00000557206 ENST00000556237 ENST00000555014 ENST00000554177 ENST00000547430
    ENST00000556827 ENST00000539097

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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate HIF1A (see all 42):
    hsa-miR-549 hsa-miR-3152-3p hsa-miR-106a hsa-miR-16-1* hsa-miR-3653 hsa-miR-519a hsa-miR-3171 hsa-miR-93
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    Additional cDNA sequence: AJ227916.1 

    24/32 DOTS entries (see all 32):

    DT.448859  DT.120747150  DT.100828291  DT.120747034  DT.95328228  DT.120747024  DT.95361808  DT.100828293 
    DT.100828298  DT.120747160  DT.40132945  DT.92035848  DT.95241728  DT.95361839  DT.97813592  DT.100672723 
    DT.100828289  DT.100828296  DT.120747179  DT.75110718  DT.75130521  DT.92456711  DT.95072045  DT.95146965 

    7 AceView cDNA sequences:

    AK093749 BF869719 AI510796 AV648847 BF848384 BU664561 AW800170 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HIF1A    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                      -                                                                     
    SP2:                                      -                                                                     
    SP3:                                      -                                                           -         
    SP4:                                                                                                            


    ECgene alternative splicing isoforms for HIF1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HIF1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGATTTCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    HIF1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraeHypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HIF1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIF1A

    SOURCE GeneReport for Unigene clusters: Hs.597216 Hs.719495

    UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665
    Tissue specificity: Expressed in most tissues with highest levels in kidney and heart. Overexpressed in the majority of
    common human cancers and their metastases, due to the presence of intratumoral hypoxia and as a result of mutations in
    genes encoding oncoproteins and tumor suppressors

        SABiosciences Expression via Pathway-Focused PCR Arrays including HIF1A (see all 15): 
              mTOR Signaling in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              VEGF Signaling in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HIF1A gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HIF1A1 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix more 79.2(n)
    79.65(a)
      374177  NM_204297.1  NP_989628.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIF1A6
    --
    76(a)
    1 ↔ 1
    1(3186934-3208207)
    African clawed frog
    (Xenopus laevis)
    Amphibia hif1a-prov2 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix more 77.2(n)    BC043769.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc554052 similar to hypoxia-inducible factor 1, alpha subunit more 72.89(n)   393202  BC046875.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sima1 , 3 regulation of transcription, DNA-dependent
    RNA more3
    similar1
    41(a)3
    45.05(n)1
    36.34(a)1
      435801  NM_079845.31  NP_524584.21 
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-346
    hif-16
    Helix-loop-helix 34
    HIF (hypoxia inducible factor) homolog family memb...
    25(a)
    16(a)
    possible ortholog
    1 ↔ many
    V(13705963-13707347)
    V(20780380-20785227)


    ENSEMBL Gene Tree for HIF1A (if available)
    TreeFam Gene Tree for HIF1A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIF1A gene
    ARNT22  CLOCK2  NPAS22  ARNT2  EPAS12  NPAS32  SIM22  SIM12  
    HIF3A2  ARNTL2  ARNTL22  NPAS12  
    4 SIMAP similar genes for HIF1A using alignment to 4 protein entries:     HIF1A_HUMAN (see all proteins):
    EPAS1    SIM2    NPAS3    HIF3A

    HIF1A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HIF1A
    PGOHUM00000247859


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/929 NCBI SNPs in HIF1A are shown (see all 929    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs101460371,2
    C,F,A,H,--42324406(+) CTAAGT/CATACA 2 -- us2k1 tfbs39Minor allele frequency- C:0.18NS EA CSA WA NA 778
    rs346440641,2
    C,H--42324837(+) CACCTC/TTGAGT 2 -- us2k12Minor allele frequency- T:0.01NS NA 182
    rs71561671,2
    H--42325777(+) GCGCAG/CAGTCC 2 -- us2k14Minor allele frequency- C:0.00NS EA 416
    rs413625501,2
    C,F,--42325858(+) GAGCGT/CCGCAG 2 -- us2k13Minor allele frequency- C:0.02NA WA 286
    rs733255931,2
    C,--42326995(+) GCGATG/CTTGTC 3 -- us2k1 int11Minor allele frequency- C:0.50WA 2
    rs178346171,2
    C,--42327671(+) GTAGAC/TTGGCT 3 -- int1 us2k14Minor allele frequency- T:0.02NA 262
    rs576039981,2
    C,--42328080(+) AGTATC/TGAACT 3 -- int1 us2k12Minor allele frequency- T:0.04WA 120
    rs1123958601,2
    --42328808(+) GGCCAC/TTAAAA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs23011041,2
    C,F,H,--42328914(+) GCATAG/CGATCT 3 -- int15Minor allele frequency- C:0.05NS EA 540
    rs782887291,2
    --42329553(+) GCAGTA/GAGTTA 3 -- int11Minor allele frequency- G:0.01NA 120

    HapMap Linkage Disequilibrium report for HIF1A (62162119 - 62214977 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HIF1A: --
    Human Gene Mutation Database (HGMD): HIF1A

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HIF1A for disorders           About GeneDecksing

    OMIM gene information: 603348    OMIM disorders: --

    20/241 diseases for HIF1A (see all 241):    About MalaCards
    hypoxia    von hippel-lindau disease    sprinting performance    alveolar soft part sarcoma
    middle ear cholesteatoma    peutz-jeghers syndrome    diffuse large b-cell lymphoma    endolymphatic sac tumor
    proliferative diabetic retinopathy    age related macular degeneration    acute mountain sickness    arteriovenous malformation
    fibrous histiocytoma    dna topoisomerase i    renal clear cell carcinoma    non-small cell lung carcinoma
    critical limb ischemia    adenomatous polyposis coli    lichen planus    congenital diaphragmatic hernia

    2 diseases from the University of Copenhagen DISEASES database for HIF1A:
    Cancer     Vascular disease

    10/97 Novoseek disease relationships for HIF1A gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 76.9 1247 12795846 (6), 18025805 (6), 19893619 (6), 19689405 (5) (see all 99)
    cancer 70.5 378 19080625 (5), 19689405 (4), 20078552 (4), 17914567 (3) (see all 99)
    solid tumor 68.7 36 16682946 (2), 10945599 (2), 18503779 (2), 17404022 (1) (see all 27)
    renal clear cell carcinoma 68.5 24 11431362 (5), 15062033 (3), 16600797 (3), 17064593 (3) (see all 11)
    carcinoma renal cell 64.5 76 19526589 (4), 19816521 (4), 16109571 (2), 17922867 (2) (see all 48)
    metastasis 62.8 235 20164027 (5), 16251878 (4), 15849727 (4), 17028975 (4) (see all 99)
    neovascularization 57.5 12 18528739 (2), 15786555 (2), 10640274 (1), 16552951 (1) (see all 10)
    retinal neovascularization 55.9 8 18853324 (3), 15834450 (1), 18307947 (1), 18767037 (1)
    aggressiveness 53.8 16 17088993 (1), 20431729 (1), 20514449 (1), 16103077 (1) (see all 14)
    prostate cancer 50 126 9850048 (4), 16954428 (4), 19102499 (4), 15791851 (3) (see all 61)

    Genetic Association Database (GAD): HIF1A
    Human Genome Epidemiology (HuGE) Navigator: HIF1A (88 documents)

    Export disorders for HIF1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HIF1A gene, integrated from 9 sources (see all 2700):
    (articles sorted by number of sources associating them with HIF1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PubMed id 9079689)1, 2, 3, 9 Hogenesch J.B.... Bradfield C.A. (1997)
    2. HIF-1 alpha protein as a target for S-nitrosation. (PubMed id 12560087)1, 2, 9 Sumbayev V.V.... Bruene B. (2003)
    3. Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein. (PubMed id 10944113)1, 2, 9 Tanimoto K.... Poellinger L. (2000)
    4. Sumoylation increases HIF-1alpha stability and its transcriptional activity. (PubMed id 15465032)1, 2, 9 Bae S.-H....Kim K.-W. (2004)
    5. Interaction between HIF-1 alpha (ODD) and hARD1 does not induce acetylation and destabilization of HIF-1 alpha. (PubMed id 16288748)1, 2, 9 Arnesen T.... Lillehaug J.R. (2005)
    6. VHL protein-interacting deubiquitinating enzyme 2 deubiquitinates and stabilizes HIF-1alpha. (PubMed id 15776016)1, 2, 9 Li Z.... Wu G. (2005)
    7. Sequence variation in hypoxia-inducible factor 1alpha (HIF1A): association with maximal oxygen consumption. (PubMed id 12865501)1, 4, 9 Prior S.J....Roth S.M. (2003)
    8. Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1. (PubMed id 9887100)1, 2, 9 Bhattacharya S....Livingston D.M. (1999)
    9. Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension. (PubMed id 7539918)1, 2, 9 Wang G.L.... Semenza G.L. (1995)
    10. Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma. (PubMed id 16246222)1, 4, 9 Ling T.S....Ding X.F. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3091 HGNC: 4910 AceView: HIF1A.1 Ensembl:ENSG00000100644 euGenes: HUgn3091
    ECgene: HIF1A Kegg: 3091 H-InvDB: HIF1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HIF1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HIF1A Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Hypoxia_inducible_factor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HIF1A gene:
    Search GeneIP for patents involving HIF1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for HIF1A
     Gene Synthesis
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     Variant Library Synthesis
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     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1A
     SwitchGear 3'UTR luciferase reporter plasmids for HIF1A
     SwitchGear Promoter luciferase reporter plasmids for HIF1A
     ThermoFisher Antibody for HIF1A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIF1A
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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