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HIF1A Gene

protein-coding   GIFtS: 72

GC14P061231
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    

Aliases &
Descriptions
for HIF1A

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
HIF-1alpha 1, 2
HIF1 1, 2
HIF1-ALPHA 2
MOP1 1, 2, 3, 5
PASD8 1, 2
bHLHe78 1, 2
Descriptions
ARNT interacting protein 2
ARNT-interacting protein 3
Basic-helix-loop-helix-PAS protein MOP1 3
HIF-1 alpha 3
HIF1 alpha 3
Member of PAS protein 1 3
hypoxia inducible factor 1, alpha subunit (basic
helix-loop-helix transcription factor) 2
hypoxia-inducible factor 1 alpha isoform I.3 2
hypoxia-inducible factor 1, alpha subunit 2
hypoxia-inducible factor 1, alpha subunit (basic
helix-loop-helix transcription factor) 2
member of PAS superfamily 1 2
External Ids
HGNC: 49101
Entrez Gene: 30912
UniProtKB: Q166653
Ensembl: ENSG000001006447
Search outside databases for aliases for HIF1A gene

Previous GC identifers: GC14P059488 GC14P055956 GC14P060152

Summaries
for HIF1A

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

 EntrezGene summary for HIF1A:
Hypoxia-inducible factor-1 (HIF1) is a transcription factor found in mammalian cells cultured under
reduced oxygen tension that plays an essential role in cellular and systemic homeostatic responses
to hypoxia. HIF1 is a heterodimer composed of an alpha subunit and a beta subunit. The beta
subunit has been identified as the aryl hydrocarbon receptor nuclear translocator (ARNT). This
gene encodes the alpha subunit of HIF-1. Overexpression of a natural antisense transcript (aHIF)
of this gene has been shown to be associated with nonpapillary renal carcinomas. Two alternative
transcripts encoding different isoforms have been identified. [provided by RefSeq]

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, 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

Gene Wiki entry for HIF1A

Genomic Location
for HIF1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HIF1A gene  

Entrez Gene cytogenetic band: 14q21-q24   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)

GeneLoc gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P061231:     (about GC identifiers)

Start:
 61,231,992 bp from pter
End:
 61,284,729 bp from pter
Size:
 52,738 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  

Proteins
for HIF1A

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 CREBBP and EP300 (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)
Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic in normoxia, nuclear translocation in
response to hypoxia. Colocalizes with SUMO1 in the nucleus, under hypoxia
PDB structures from and Proteopedia :
1D7G (3D)    1H2K (3D)    1H2L (3D)    1H2M (3D)    1L3E (3D)    1L8C (3D)    1LM8 (3D)    1LQB (3D)    
2ILM (3D)    
Secondary accessions: Q53XP6 Q96PT9 Q9UPB1
Alternative splicing: 2 isoforms:  Q16665-1   Q16665-2   

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. 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-binding1
  • Sumoylated; by 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 phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001521.1  NP_851397.1  


    ENSEMBL proteins: 
    ENSP00000378446 ENSP00000378439 ENSP00000323326 ENSP00000338018 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (HIF1 alpha)
    Human Recombinant Proteins from Abnova (HIF1A)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA15261140
    GO:0005667 transcription factor complex IPI9576906
    GO:0005730 nucleolus IDA18029348
    GO:0005737 cytoplasm IEA--
    GO:0009434 microtubule-based flagellum IEA--
    About this table

    Antibodies for HIF1A: 
    Invitrogen Antibodies for HIF1A
    Millipore Mono- and Polyclonal Antibodies for the study of HIF1A
    Sigma-Aldrich Antibodies for HIF1A
    R&D Systems Antibodies for HIF1A (HIF-1 alpha)
    Cell Signaling Technology (CST) Antibodies for HIF1A  (HIF1-alpha)
    Antibodies from Abcam (HIF1 alpha), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (HIF1A)
    Novus Biologicals Antibodies for HIF1A

    Assays for HIF1A: 
    Invitrogen Assays for HIF1A
    Millipore Kits and Assays for the Analysis of HIF1A
    R&D Systems ELISAs for HIF1A (HIF-1 alpha)         (see all)
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for HIF1A

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro domains/families (see all 6 ):
     IPR001610 PAC
     IPR001092 HLH_basic
     IPR000014 PAS
     IPR001321 HypoxindF1A_PAS
     IPR014887 HIF-1_TAD_C


       GeneDecks  HIF1A for the domains selected above  
    About GeneDecksing

    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 basic helix-loop-helix (bHLH) domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains

    Gene Function
    for HIF1A

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (HIF1A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HIF1A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_181054

                  Applied Biosystems Silencer® siRNAs for HIF1A

                  Sigma-Aldrich siRNA for HIF1A  
                         Sigma-Aldrich shRNA for HIF1A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001530
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001530
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001530 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001530

    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, 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
    Induction: Under reduced oxygen tension. Induced also by various receptor-mediated factors such as
    growth factors, cytokines, and circulatory factors such as PDGF, EGF FGF-2 FGF-2 IGF-2, TGF-1
    beta, HGF, TNF alpha, IL-1 beta, angiotensin-2 and thrombin. However, this induction is less
    intense than that stimulated by hypoxia

    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

    15/19 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Hif1a) (see all 19 ):

    behavior/neurologicalcellularcraniofacialembryogenesis
    growth/sizehematopoietic systemhomeostasis/metabolismimmune systemlethality-prenatal/perinatal
    limbs/digits/tailliver/biliary systemmusclenervous systemnormal

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003705contributes to RNA polymerase II transcription factor activity, enhancer binding IDA7539918 8756616
    GO:0004871 signal transducer activity IEA--
    GO:0008134 transcription factor binding IPI7539918
    GO:0035035 histone acetyltransferase binding IPI15261140
    GO:0043565contributes to sequence-specific DNA binding IDA7539918 8756616 9079689
    About this table

    Pathways & Interactions
    for HIF1A

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for HIF1A (Maps provided by GeneGo):
     Role of Akt in hypoxia induced HIF1 activation

       GeneDecks  HIF1A for the pathways selected above  
    About GeneDecksing

    3 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

       GeneDecks  HIF1A for the pathways selected above  
    About GeneDecksing

    5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for  HIF1A  (Your Favorite Gene powered by Ingenuity) (see all 6 ) 
     Hypoxia Signaling in the Cardiovascular System
     TR/RXR Activation
     VEGF Signaling
     Renal Cell Carcinoma Signaling
     HIF1&alpha

       GeneDecks  HIF1A for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for HIF1A):
     hsa04150 mTOR signaling pathway
     hsa05200 Pathways in cancer
     hsa05211 Renal cell carcinoma

       GeneDecks  HIF1A for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  HIF1A 


    5/208 Interacting proteins for HIF1A (Q166651, 2 ENSP000003380183) via UniProtKB, MINT, and/or STRING (see all 208 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTA1Q133302, ENSP000003336333MINT-1957363 MINT-1957385 MINT-1957313 MINT-1957331 MINT-1957284 MINT-1957260 STRING (score=.972)
    SP1P080472, ENSP000003293573MINT-3378435 MINT-3378397 MINT-3378454 STRING (score=.974)
    EGLN2Q96KS02, ENSP000003070803MINT-50605 MINT-1957493 STRING (score=.999)
    EGLN3Q9H6Z92, ENSP000002504573MINT-50607 MINT-1957585 STRING (score=.999)
    ARD1AP412272, ENSP000003590323MINT-72733 MINT-72734 STRING (score=.992)
    About this table

    5/39 Gene Ontology (GO) biological process terms (links to tree view) (see all 39 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666 response to hypoxia IDA9887100 15261140
    GO:0001755 neural crest cell migration IEA--
    GO:0001837 epithelial to mesenchymal transition IEA--
    GO:0001892 embryonic placenta development IEA--
    GO:0001938 positive regulation of endothelial cell proliferation IC8756616
    About this table

    Drugs & Compounds
    for HIF1A

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for HIF1A
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HIF1A
    10/44 Novoseek chemical compound relationships for HIF1A gene (see all 44 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cocl2 79.40 65 16489029 (3), 12215445 (3), 17474992 (3), 15525582 (2) (see all 33)
    oxygen 77.51 399 12378005 (4), 15862307 (4), 17272744 (4), 15967517 (4) (see all 99)
    pimonidazole 74.39 21 16456867 (4), 12829158 (4), 17289019 (2), 15623619 (2) (see all 7)
    deferoxamine 68.97 93 18371939 (5), 16527254 (4), 18459142 (4), 15878351 (3) (see all 40)
    2-methoxyestradiol 63.44 18 15336552 (3), 19429018 (2), 18202195 (1), 18656951 (1) (see all 9)
    17-(allylamino)-17-demethoxygeldanamycin 61.44 3 19176399 (1), 17975158 (1)
    phosphatidylinositol 60.75 59 12070140 (2), 15930297 (2), 12149254 (1), 15623602 (1) (see all 41)
    pd 98,059 52.94 29 10987301 (1), 12401798 (1), 16506055 (1), 15095341 (1) (see all 19)
    cobalt 50.64 35 17015263 (5), 11886167 (4), 11358837 (3), 12810083 (2) (see all 22)
    matrigel 48.97 3 16777983 (1), 12615733 (1)
    About this table


    Transcripts
    for HIF1A

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (HIF1A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HIF1A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_181054

                  Sigma-Aldrich siRNA for HIF1A  
                         Sigma-Aldrich shRNA for HIF1A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001530  NM_181054  

    REFSEQ mRNAs for HIF1A gene (2 alternative transcripts): 

    NM_001530.3   NM_181054.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001530  NM_181054  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001530
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001530
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001530 

    Additional cDNA sequence: 

    AB073325.1 AF207601.1 AF207602.1 AF304431.1 AJ227916.1 AK296876.1 AK299551.1 AK304315.1 
    AK304436.1 AK312397.1 BC012527.2 BT009776.1 BX648795.1 DQ975378.1 FJ790247.1 U22431.1 
    U29165.1 X72726.1 

    24/37 DOTS entries (see all 37 ):

    DT.448859  DT.120747150  DT.100828291  DT.120747034  DT.95328228  DT.100672723  DT.100828298  DT.120747024 
    DT.40307623  DT.95361808  DT.100828293  DT.120747160  DT.40132945  DT.92035848  DT.95241728  DT.95361839 
    DT.97813592  DT.100828289  DT.100828296  DT.120747071  DT.120747081  DT.120747091  DT.120747179  DT.75110718 

    7 AceView cDNA sequences:

    BF869719 AK093749 AI510796 BF848384 AV648847 BU664561 AW800170 

    highest scoring ESTs for HIF1A:

    AI983856 U22431 AA152250 AA156339 AA171565 AA204639 AA206071 AA244037 AA279252 AA294865 

    Unigene Cluster for HIF1A:

    Hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
    Hs.597216  [show with all ESTs]
    Unigene Representative Sequence: NM_001530


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for HIF1A

    4 Ensembl transcripts including schematic representations:
    ENST00000394997  ENST00000394988  ENST00000323441  ENST00000337138  

    Expression
    for HIF1A

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HIF1A expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HIF1A

    1 / 2 / 3

    4 probe-sets matching HIF1A gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		75276_at2, 3 U95-D 1 1.00 1.00 0.99 1.31 AI983856 1.00 0.90 0.95 1
    1039_s_at2, 3 U95-A 1 1.00 1.00 0.98 0.69 U22431 1.00 0.90 0.95 1

    		200989_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001530 0.60 0.83 0.73 1

    		200989_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  HIF1A for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.597216

    Expression variation in blood from EXPOLDB for HIF1A

    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

    Orthologs
    for HIF1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for HIF1A gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 HIF1A1   -- hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix more 94.29(n)
    95.87(a)    		 480348  XM_537471.2  XP_537471.2 
    chimpanzee
    (Pan troglodytes)    		 HIF1A1   -- hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix more 99.88(n)
    99.76(a)    		 746195  XM_001168785.1  XP_001168785.1 
    cow
    (Bos taurus)    		 HIF1A1   -- hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix more 94.17(n)
    95.5(a)    		 281814  NM_174339.2  NP_776764.1 
    rat
    (Rattus norvegicus)    		 Hif1a1   -- hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix more 88.67(n)
    90.86(a)    		 29560  NM_024359.1  NP_077335.1 
    mouse
    (Mus musculus)    		 Hif1a1, 5 12 (31.00 cM)5
    		 hypoxia inducible factor 1, alpha subunit1, 5 89.28(n)1
    91.11(a)1    		 152511  NM_010431.11  NP_034561.11 
     AA9597955  AF0036955  (see all 41)
    About this table        Species with no ortholog for HIF1A

    ENSEMBL Gene Tree for HIF1A

    Paralogs
    for HIF1A

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HIF1A gene
    EPAS12  HIF3A2  

    SNPs/Variants
    for HIF1A

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/296 NCBI SNPs in HIF1A are shown (see all 296 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 73)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 14 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs20574821,2
    		A,C,F,H,O61283601(+) GCTCAC/TTACCT 2 -- ut31 ese39Minor allele frequency- T:0.22EU EA WA NA 678
    rs101460371,2
    		A,C,F,H61230273(+) ctaagT/Cataca 2 -- ng51 tfbs34Minor allele frequency- C:0.16EU EA WA 416
    rs115494671,2
    		C,F,H61277328(+) GTTCCG/ACAAGC 2 T/A mis1 ese311Minor allele frequency- A:0.02NA EU EA WA 960
    rs115494651,2
    		C,F,H61277310(+) TGTCAC/TCATTA 2 P/S mis1 ese313Minor allele frequency- T:0.06NA EU EA WA 1106
    --
    rs9947401,2
    		A,C61285128(+) ATAAAC/TTTAGA 2 -- ng311Minor allele frequency- T:0.00MN 184
    rs9847881,2
    		C,H61231062(+) GATTAC/TGTTTT 2 -- ng514Minor allele frequency- T:0.00EU EA WA 418
    --
    rs413986441,2
    		F61283686(+) ATTTTT/-GATCC 2 -- ut311Minor allele frequency- -:0.12NA 48
    rs71561671,2
    		H61231644(+) GCGCAG/CAGTCC 2 -- ng514Minor allele frequency- C:0.00EU EA WA 416
    --
    rs49020791,2
    		C61230050(+) tggtgC/Ggtgcc 2 -- ng510--------
    rs170991411,2
    		F,H61263992(+) TATAAG/AAAACC 2 K/K syn17Minor allele frequency- A:0.02NA EU EA WA 562
    About this table

    HapMap Linkage Disequilibrium images for HIF1A (up to first 250kb)

    Disorders & Mutations
    for HIF1A

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 603348

    10/95 Novoseek disease relationships for HIF1A gene (see all 95 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 75.73 1068 12795846 (6), 18025805 (6), 18644974 (5), 15845570 (5) (see all 99)
    renal clear cell carcinoma 70.44 23 11431362 (5), 15062033 (3), 16600797 (3), 17064593 (3) (see all 10)
    cancer 68.18 311 19080625 (5), 17914567 (3), 18644974 (3), 18483308 (3) (see all 99)
    solid tumor 66.36 28 16682946 (2), 10945599 (2), 18503779 (2), 17404022 (1) (see all 21)
    carcinoma renal cell 63.30 62 16109571 (2), 17922867 (2), 16600797 (2), 16920734 (2) (see all 43)
    metastasis 60.33 195 16251878 (4), 15849727 (4), 17028975 (4), 18297062 (3) (see all 98)
    neovascularization 54.61 9 18528739 (2), 15786555 (2), 10640274 (1), 16552951 (1) (see all 7)
    aggressiveness 50.43 13 17088993 (1), 16103077 (1), 17359291 (1), 16512994 (1) (see all 11)
    retinal neovascularization 48.99 8 18853324 (3), 15834450 (1), 18307947 (1), 18767037 (1)
    glioblastoma 48.33 19 12829158 (3), 14712484 (2), 16136272 (2), 16682012 (2) (see all 11)
    About this table

    1 PharmGKB disease relationship for HIF1A gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872 12730115
    About this table

    Human Gene Mutation Database: HIF1A
    Genetic Association Database: HIF1A
    Human Genome Epidemiology Navigator: HIF1A (42 documents)

    Medical News
    for HIF1A

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for HIF1A

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

    		10/1729 PubMed articles for HIF1A gene (see all 1729 ):

    Search for HIF1A

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing HIF1A

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

    Other Databases showing HIF1A

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing HIF1A

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

    Licensable Technologies
    for HIF1A

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for HIF1A

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HIF1A:
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     Drugs for HIF1A
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     Antibodies for HIF1A

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