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

HIF1AN Gene

protein-coding   GIFtS: 61
GCID: GC10P102285

hypoxia inducible factor 1, alpha subunit inhibitor

 Explore 19 diseases affiliated with
HIF1AN via our new
 Human Malady Compendium 
Biological research products
for HIF1AN
    

(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 Inhibitor1 2     FLJ220271
FIH11 2 3 5     Factor Inhibiting HIF12
Factor Inhibiting HIF-12 3     Hypoxia-Inducible Factor 1-Alpha Inhibitor2
Hypoxia-Inducible Factor Asparagine Hydroxylase2 3     Peptide-Aspartate Beta-Dioxygenase2
FIH-12 3     EC 1.14.11.303
DKFZp762F18111     EC 1.14.11.N41
FLJ206151     

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

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


(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_000010.10  NC_018921.1  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 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: 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;
6/27 PDB 3D structures from and Proteopedia for HIF1AN (see all 27):
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NWT6

  • HIF1AN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060372.2  
    ENSEMBL proteins: 
     ENSP00000433360   ENSP00000299163   ENSP00000432791  
    Reactome Protein details: Q9NWT6
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    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



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

    HIF1AN for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003347 JmjC_dom

    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


    (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: 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

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    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
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    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 IPI18299578
    GO:0005506iron ion binding IDA12446723
    GO:0005515protein binding IPI19060904
    GO:0008270zinc ion binding IDA12446723
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--


    HIF1AN for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HIF1AN:
     Increased circadian period len 

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


    (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 - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    Cellular responses to stress0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    Cellular response to hypoxia0.72
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha0.27
    2Angiogenesis
    Angiogenesis1.00
    3HIF1Alpha Pathway
    HIF1Alpha Pathway1.00
    4HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network1.00
    5Translational Control
    Translational Control1.00

    Pathway sources
    See GeneCards unified pathways
    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-2349899 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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0033554cellular response to stress TAS--
    GO:0036138peptidyl-histidine hydroxylation IDA--
    GO:0042264peptidyl-aspartic acid hydroxylation IDA--
    GO:0042265peptidyl-asparagine hydroxylation IMP19245366


    HIF1AN 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

    HIF1AN for compounds           About GeneDecksing

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

    Browse Tocris compounds for HIF1AN

    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 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 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,
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    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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    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
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    Additional cDNA 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):

    CD367426 AI334150 AA496967 BC015574 AI828893 BQ718820 BM782366 BM126975 
    BQ054638 BC007719 BM126343 BM452795 CR621864 CB142092 BI871476 BQ424981 
    BU633242 AA872521 AW205129 AA972839 AA490565 AA418651 AA912210 BQ951626 

    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
    CGAP TAG: GCCCAGGAGT

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

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    In Situ
    Assay Products:
     

     
    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 eukaryotes.

    Orthologs for HIF1AN gene from 7/20 species (see all 20)    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 inhibitor1, 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 80.66(n)
    89.21(a)
      428952  XM_426507.3  XP_426507.2 
    lizard
    (Anolis carolinensis)
    Reptilia HIF1AN6
    --
    85(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 more 75.55(n)    BC044475.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G198406
    transcription factor jumonji (jmjC) domain-contain...
    9(a)
    1 ↔ 1
    5(6705325-6709792)
    rice
    (Oryza sativa)
    Liliopsida --
    transcription factor jumonji, putative, expressed
    10(a)
    1 ↔ 1
    1(32674396-32680363)


    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  JMJD72  HSPBAP12  KDM82  
    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, 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

    10/388 NCBI SNPs in HIF1AN are shown (see all 388    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
    --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
    --102294091(+) TAGTCC/TGGCAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HIF1AN (102288829 - 102313681 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HIF1AN
         1 CNV: 3818
    Human Gene Mutation Database (HGMD): HIF1AN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HIF1AN
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HIF1AN for disorders           About GeneDecksing

    OMIM gene information: 606615    OMIM disorders: --

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

    2 Novoseek 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)

    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 97):
    (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. MYPT1, the targeting subunit of smooth-muscle myosin phosphatase, is a substrate for the asparaginyl hydroxylase factor inhibiting hypoxia-inducible factor (FIH). (PubMed id 19245366)1, 2 Webb J.D....Coleman M.L. (2009)

    (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



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