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

HIF1AN Gene

protein-coding   GIFtS: 64
GCID: GC10P102285

Hypoxia Inducible Factor 1, Alpha Subunit Inhibitor

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hypoxia Inducible Factor 1, Alpha Subunit Inhibitor1 2     FIH-12 3
FIH12 3 5     Factor Inhibiting HIF12
Peptide-Aspartate Beta-Dioxygenase1 2     Hypoxia-Inducible Factor 1-Alpha Inhibitor2
Factor Inhibiting HIF-12 3     EC 1.14.11.303
Hypoxia-Inducible Factor Asparagine Hydroxylase2 3     EC 1.14.11.n43

External Ids:    HGNC: 171131   Entrez Gene: 556622   Ensembl: ENSG000001661357   OMIM: 6066155   UniProtKB: Q9NWT63   

Export aliases for HIF1AN gene to outside databases

Previous GC identifers: GC10P101188 GC10P101529 GC10P102420 GC10P101960 GC10P095924


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

GeneCards Summary for HIF1AN Gene: 
HIF1AN (hypoxia inducible factor 1, alpha subunit inhibitor) is a protein-coding gene. Diseases associated with HIF1AN include hypoxia, and pancreatic endocrine tumor, and among its related super-pathways are Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and protein homodimerization activity. An important paralog of this gene is TYW5.

UniProtKB/Swiss-Prot: HIF1N_HUMAN, Q9NWT6
Function: Hydroxylates HIF-1 alpha at 'Asp-803' in the C-terminal transactivation domain (CAD). Functions as an
oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with
transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional
repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues
within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing
proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively
regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting
vascular differentiation

Gene Wiki entry for HIF1AN Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIF1AN gene promoter:
         SRF   RP58   SRF (504 AA)   MIF-1   CUTL1   Tal-1beta   E47   Max   IRF-7A   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIF1AN promoter sequence
   Search SABiosciences Chromatin IP Primers for HIF1AN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIF1AN


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24

HIF1AN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIF1AN gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P102285:  view genomic region     (about GC identifiers)

Start:
102,288,829 bp from pter      End:
102,313,681 bp from pter
Size:
24,853 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HIF1N_HUMAN, Q9NWT6 (See protein sequence)
Recommended Name: Hypoxia-inducible factor 1-alpha inhibitor  
Size: 349 amino acids; 40285 Da
Cofactor: Fe(2+) ion
Subunit: Homodimer; homodimerization is essential for catalytic activity. Interacts with VHL and HIF1A. Part of a
complex with VHL, HIF1A and HDAC1 or HDAC2 or HDAC3. Interacts with NFKB1 and NFKBIA. Interacts with NOTCH1,
NOTCH2 and NOTCH3 but not with NOTCH4. Interacts with APBA3; binding inhibits HIF1AN binding to HIF1A. Interacts
with TNKS2. Interacts with PPP1R12A. Interacts with ASB4 (By similarity). Interacts with UBE3A
Subcellular location: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Mainly cytoplasmic localization, but
interaction with NOTCH1 results in nuclear localization and interaction with ABPA3 results in perinuclear
localization in macrophages
Mass spectrometry: Mass=40566; Method=Electrospray; Range=1-349; Source=PubMed:15239670;
6/28 PDB 3D structures from and Proteopedia for HIF1AN (see all 28):
1H2K (3D)        1H2L (3D)        1H2M (3D)        1H2N (3D)        1IZ3 (3D)        1MZE (3D)    
Secondary accessions: D3DR69 Q5W147 Q969Q7 Q9NPV5

Explore the universe of human proteins at neXtProt for HIF1AN: NX_Q9NWT6

Explore proteomics data for HIF1AN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NWT6

  • HIF1AN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIF1AN Protein Expression
    REFSEQ proteins: NP_060372.2  
    ENSEMBL proteins: 
     ENSP00000433360   ENSP00000299163   ENSP00000432791  
    Reactome Protein details: Q9NWT6
    Human Recombinant Protein Products for HIF1AN: 
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    OriGene Purified Protein for HIF1AN
    OriGene Protein Over-expression Lysate for HIF1AN
    OriGene MassSpec for HIF1AN 
    OriGene Custom Protein Services for HIF1AN
    GenScript Custom Purified and Recombinant Proteins Services for HIF1AN
    Novus Biologicals HIF1AN Proteins
    Novus Biologicals HIF1AN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HIF1AN
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634colocalizes with nucleus IDA18299578
    GO:0005737cytoplasm IDA14734545
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IDA19726677

    HIF1AN for ontologies           About GeneDecksing



    HIF1AN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HIF1AN
    R&D Systems Antibodies for HIF1AN (FIH-1/HIF-1AN)
    Cell Signaling Technology (CST) Antibodies for HIF1AN 
    OriGene Antibodies for HIF1AN
    OriGene Custom Antibody Services for HIF1AN
    GenScript Custom Superior Antibodies Services for HIF1AN
    Novus Biologicals HIF1AN Antibodies
    Abcam antibodies for HIF1AN
    Browse Antibodies at Cloud-Clone Corp. 
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    LSBio Antibodies in human, mouse, rat for HIF1AN 

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR027445 FIH-1
     IPR003347 JmjC_dom
     IPR027452 FIH-1_domII

    Graphical View of Domain Structure for InterPro Entry Q9NWT6

    ProtoNet protein and cluster: Q9NWT6

    UniProtKB/Swiss-Prot: HIF1N_HUMAN, Q9NWT6
    Similarity: Contains 1 JmjC domain


    HIF1AN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HIF1N_HUMAN, Q9NWT6
    Function: Hydroxylates HIF-1 alpha at 'Asp-803' in the C-terminal transactivation domain (CAD). Functions as an
    oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with
    transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional
    repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues
    within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing
    proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively
    regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting
    vascular differentiation
    Catalytic activity: Hypoxia-inducible factor-L-asparagine + 2-oxoglutarate + O(2) = hypoxia-inducible
    factor-(3S)-3-hydroxy-L-asparagine + succinate + CO(2)
    Catalytic activity: Ankyrin-repeat-L-histidine + 2-oxoglutarate + O(2) = ankyrin-repeat-(3S)-3-hydroxy-L-histidine
    + succinate + CO(2)
    Biophysicochemical properties: Kinetic parameters: KM=100 uM for HIF1A (788-822) peptide; KM=160 uM for HIF2A
    (832-866) peptide; KM=0.5 uM for Fe(2+); KM=25 uM for 2-oxoglutarate; KM=260 uM for ascorbate; KM=90 uM for O(2);
    Note=The kinetic constants are determined for the recombinant FLAG-His-tagged protein;

         Enzyme Numbers (IUBMB): EC 1.14.11.n41 EC 1.14.11.301

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005112Notch binding IPI17573339
    GO:0005506iron ion binding IDA12446723
    GO:0005515protein binding IPI11641274
    GO:0008270zinc ion binding IDA12446723
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
         
    HIF1AN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HIF1AN:
     Increased circadian period len 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hif1an):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     homeostasis/metabolism  liver/biliary system  muscle  normal  respiratory system 

    HIF1AN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hif1antm1.2Rsjo for HIF1AN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HIF1AN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HIF1AN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HIF1AN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HIF1AN 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HIF1AN
    8/158 QIAGEN miScript miRNA Assays for microRNAs that regulate HIF1AN (see all 158):
    hsa-miR-520f hsa-miR-3921 hsa-miR-519a hsa-miR-877* hsa-miR-3622b-3p hsa-miR-3909 hsa-miR-761 hsa-miR-520b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HIF1AN

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: HIF1AN (NM_017902)
    Sino Biological Human cDNA Clone for HIF1AN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIF1AN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIF1AN
    Sirion Biotech Customized lentivirus for stable overexpression of HIF1AN 
                         Customized lentivirus expression plasmids for stable overexpression of HIF1AN 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1AN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HIF1AN About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cellular response to hypoxia
    Cellular response to hypoxia0.72
    Cellular responses to stress0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    2Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha
    Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha
    3Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    4HIF1Alpha Pathway
    HIF1Alpha Pathway
    5HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HIF1AN
        HIF1Alpha Pathway

    2 Cell Signaling Technology (CST) Pathways for HIF1AN
        Translational Control
    Angiogenesis

    2 BioSystems Pathways for HIF1AN
        Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    HIF-2-alpha transcription factor network


    4        Reactome Pathways for HIF1AN
        Cellular response to hypoxia
    Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Cellular responses to stress



    HIF1AN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIF1AN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/29 Interacting proteins for HIF1AN (Q9NWT61, 2, 3 ENSP000002991634) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNKS2Q9H2K22, 3, ENSP000003606894MINT-8084814 MINT-8084841 MINT-8084829 MINT-8084940 I2D: score=1 STRING: ENSP00000360689
    HIF1AQ166651, 2, 3, ENSP000003380184EBI-745632,EBI-447269 MINT-6802187 I2D: score=4 STRING: ENSP00000338018
    ASB9Q96DX51, 2, 3, ENSP000003698554EBI-745632,EBI-745641 MINT-66697 I2D: score=4 STRING: ENSP00000369855
    TNKSO952712, 3, ENSP000003115794MINT-8084882 MINT-8084923 I2D: score=1 STRING: ENSP00000311579
    GABPB2Q8TAK52, 3, ENSP000003579144MINT-8085095 I2D: score=1 STRING: ENSP00000357914
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0036138peptidyl-histidine hydroxylation IDA--
    GO:0042264peptidyl-aspartic acid hydroxylation IDA--
    GO:0042265peptidyl-asparagine hydroxylation IMP19245366
    GO:0045663positive regulation of myoblast differentiation IDA18299578

    HIF1AN for ontologies           About GeneDecksing



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

    HIF1AN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for HIF1AN

    Browse Tocris compounds for HIF1AN (HIF1N)

    5 HMDB Compounds for HIF1AN    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    IronArmco iron (see all 19)7439-89-6--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    2 DrugBank Compounds for HIF1AN    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-(CARBOXYCARBONYL)-D-PHENYLALANINE-- --target--10592235
    D-tartaric acid(-)-Tartaric acid (see all 7)147-71-7target----

    7 Novoseek inferred chemical compound relationships for HIF1AN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-ketoglutarate 77.2 9 16321790 (1), 15299039 (1), 20396966 (1), 12432100 (1) (see all 5)
    asparagine 76 15 18426857 (3), 16579968 (2), 14734545 (1), 12482756 (1) (see all 8)
    proline 55.4 5 16579968 (1), 20416277 (1), 16585195 (1), 18426857 (1)
    oxygen 33 12 19401150 (2), 16686428 (2), 16321790 (1), 20416277 (1) (see all 7)
    cobalt 30.6 1 16705796 (1)
    nickel 25.7 1 16705796 (1)
    nadph 14.2 2 16321790 (1), 15299039 (1)

    Search CenterWatch for drugs/clinical trials and news about HIF1AN / HIF1N

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HIF1AN gene: 
    NM_017902.2  

    Unigene Cluster for HIF1AN:

    Hypoxia inducible factor 1, alpha subunit inhibitor
    Hs.500788  [show with all ESTs]
    Unigene Representative Sequence: NM_017902
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533589 ENST00000299163(uc001krj.4) ENST00000526476 ENST00000528044
    ENST00000478787

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HIF1AN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HIF1AN

    Additional mRNA sequence: 

    AF395830.1 AK000622.1 AK025680.1 AK295353.1 AL359615.1 BC007719.2 BC015574.2 

    13 DOTS entries:

    DT.312780  DT.100675644  DT.443730  DT.91921583  DT.95369693  DT.100777659  DT.86852947  DT.121302782 
    DT.92013790  DT.100777300  DT.100777660  DT.91934218  DT.92431319 

    24/235 AceView cDNA sequences (see all 235):

    BQ951626 BQ054638 BM782366 CB142092 AI334150 AI933064 AF395830 CD367426 
    CR621864 BQ718820 BQ896786 AA972839 BC015574 BI871476 BM717323 BC007719 
    BM906687 BM126975 BM126343 AA912210 AA418651 AA872521 AL359615 AA490565 

    GeneLoc Exon Structure


    (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

    HIF1AN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCAGGAGT
    HIF1AN Expression
    About this image


    See HIF1AN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIF1AN

    SOURCE GeneReport for Unigene cluster: Hs.500788
        SABiosciences Expression via Pathway-Focused PCR Array including HIF1AN: 
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1AN

    (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 chordates.

    Orthologs for HIF1AN gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hif1an1 , 5 hypoxia-inducible factor 1, alpha subunit inhibitor less1, 5 91.12(n)1
    97.13(a)1
      19 (37.98 cM)5
    3195941  NM_176958.31  NP_795932.21 
     445628505 
    chicken
    (Gallus gallus)
    Aves HIF1AN1 hypoxia inducible factor 1, alpha subunit inhibitor less 80.66(n)
    89.21(a)
      428952  XM_426507.3  XP_426507.2 
    lizard
    (Anolis carolinensis)
    Reptilia HIF1AN6
    Uncharacterized protein
    86(a)
    1 ↔ 1
    GL343388.1(271368-284967)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ042402.12   -- 80.06(n)    BJ042402.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.133712 Danio rerio mRNA similar to hypoxia-inducible factor 1, alpha subunit inhibitor (cDNA clone MGC55763 IMAGE3816694), complete cds less 75.55(n)    BC044475.1 


    ENSEMBL Gene Tree for HIF1AN (if available)
    TreeFam Gene Tree for HIF1AN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIF1AN gene
    TYW52  KDM82  HSPBAP12  
    1 SIMAP similar gene for HIF1AN using alignment to 3 protein entries:     HIF1N_HUMAN (see all proteins):
    JMJD7-PLA2G4B

    HIF1AN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/470 SNPs in HIF1AN are shown (see all 470)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111905971,2
    C,A--102293676(+) TAATTA/TATTTA 1 -- us2k1 tfbs34Minor allele frequency- T:0.16CSA WA NA EA 359
    rs1437845791,2
    --102293677(+) AATTAA/GTTTAT 1 -- us2k10--------
    rs1930507681,2
    --102293784(+) AATCCC/TCCTAC 1 -- us2k10--------
    rs1468570281,2
    C--102293813(+) TGGGAC/GTACAG 1 -- us2k10--------
    rs746502181,2
    C,F--102293830(+) ATCAAC/TGCACC 1 -- us2k16Minor allele frequency- T:0.16NA CSA WA EA 364
    rs1830673431,2
    --102293836(+) GCACCC/GAGCTA 1 -- us2k10--------
    rs1406081911,2
    --102293878(+) TGCTAA/TGTTGC 1 -- us2k10--------
    rs115993751,2
    H--102293922(+) tcctcC/Ttgcct 1 -- us2k10--------
    rs1437311671,2
    --102293957(+) CAGGCA/GTGTGC 1 -- us2k10--------
    rs1510648691,2
    C--102294091(+) TAGTCC/TGGCAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HIF1AN (102288829 - 102313681 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HIF1AN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7519CNV Insertion18451855
    dgv811n71CNV Loss21882294
    nsv831963CNV Loss17160897
    nsv831962CNV Gain17160897
    nsv895957CNV Gain21882294
    essv24916CNV CNV17122850


    Human Gene Mutation Database (HGMD): HIF1AN
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HIF1AN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606615    OMIM disorders: --

    17 diseases for HIF1AN:    About MalaCards
    hypoxia    pancreatic endocrine tumor    severe pre-eclampsia    pre-eclampsia
    eclampsia    non-small cell lung carcinoma    esophageal adenocarcinoma    lung adenocarcinoma
    renal cell carcinoma    adenocarcinoma    alzheimer's disease    pancreatitis
    esophagitis    prostate cancer    prostatitis    lung cancer
    breast cancer


    HIF1AN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for HIF1AN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 36.1 1 15220362 (1)
    tumors 7.78 1 17089387 (1)

    Genetic Association Database (GAD): HIF1AN
    Human Genome Epidemiology (HuGE) Navigator: HIF1AN (8 documents)

    Export disorders for HIF1AN 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 HIF1AN gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with HIF1AN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity. (PubMed id 11641274)1, 2, 3, 9 Mahon P.C.... Semenza G.L. (2001)
    2. Mint3 enhances the activity of hypoxia-inducible fact or-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HI F-1. (PubMed id 19726677)1, 2, 9 Sakamoto T. and Seiki M. (2009)
    3. Structure of human FIH-1 reveals a unique active site pocket and interaction sites for HIF-1 and von Hippel-Lindau. (PubMed id 12482756)1, 2, 9 Lee C....Ryu S.E. (2003)
    4. Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways. (PubMed id 18299578)1, 2, 9 Zheng X....Poellinger L. (2008)
    5. Substrate requirements of the oxygen-sensing asparaginyl hydroxylase factor-inhibiting hypoxia-inducible factor. (PubMed id 14734545)1, 2, 9 Linke S....Peet D.J. (2004)
    6. Structure of factor-inhibiting hypoxia-inducible factor 1: an asparaginyl hydroxylase involved in the hypoxic response pathway. (PubMed id 12432100)1, 2, 9 Dann C.E. III... Deisenhofer J. (2002)
    7. Identification and proteomic analysis of distinct UBE3 A/E6AP protein complexes. (PubMed id 22645313)1, 2 Martinez-Noel G....Howley P.M. (2012)
    8. Asparagine and aspartate hydroxylation of the cytoske letal ankyrin family is catalyzed by factor-inhibiting hypoxia-inducible factor . (PubMed id 21177872)1, 2 Yang M....Schofield C.J. (2011)
    9. Factor-inhibiting hypoxia-inducible factor (FIH) cata lyses the post-translational hydroxylation of histidinyl residues within ankyri n repeat domains. (PubMed id 21251231)1, 2 Yang M....Schofield C.J. (2011)
    10. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)

    (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: 55662 HGNC: 17113 AceView: HIF1AN Ensembl:ENSG00000166135 euGenes: HUgn55662
    ECgene: HIF1AN H-InvDB: HIF1AN

    (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 HIF1AN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HIF1AN Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HIF1AN gene:
    Search GeneIP for patents involving HIF1AN

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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