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HAO1 Gene

protein-coding   GIFtS: 56

GC20M007863
hydroxyacid oxidase (glycolate oxidase) 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GOX1)
Products    

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

Aliases & Descriptions
hydroxyacid oxidase (glycolate oxidase) 11 2     (S)-2-hydroxy-acid oxidase2
GOX1 2 3     MGC1422252
GOX12 3 5     hydroxyacid oxidase 12
Glycolate oxidase2 3     MGC1422272
HAOX12 3     EC 1.1.3.153

External Ids:    HGNC: 48091   Entrez Gene: 543632   Ensembl: ENSG000001013237   UniProtKB: Q9UJM83   

Export aliases for HAO1 gene to outside databases

Previous GC identifers: GC20M007851 GC20M007858 GC20M007811


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

Entrez Gene summary for HAO1:
This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino
acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the
peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most
active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript
detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple
near-consensus upstream polyadenylation site. (provided by RefSeq)

UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
Function: Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on
2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HAO1 gene promoter:
         Sp1   POU2F1   CUTL1   MIF-1   LCR-F1   GATA-1   Sox9   Bach1   STAT5A   RFX1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HAO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 20p12   Ensembl cytogenetic band:  20p12.3   HGNC cytogenetic band: 20p12

HAO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HAO1 gene location

GeneLoc gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M007863:  view genomic region     (about GC identifiers)

Start:
7,814,621 bp from pter
End:
7,921,121 bp from pter
Size:
106,501 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 (See protein sequence)
Recommended Name: Hydroxyacid oxidase 1  
Size: 370 amino acids; 40924 Da
Cofactor: FMN
Subcellular location: Peroxisome
PDB structures from and Proteopedia :
2NZL (3D)    2RDT (3D)    2RDU (3D)    2RDW (3D)    2W0U (3D)    
Secondary accessions: Q14CQ0 Q9UPZ0 Q9Y3I7

Explore the universe of human proteins at neXtProt for HAO1: NX_Q9UJM8 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_060015.1  

    ENSEMBL proteins: 
    ENSP00000368066 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    R&D Systems Recombinant & Natural Proteins for HAO1 (Hydroxyacid Oxidase-1/HAO-1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: HAO1
    OriGene Protein Over-expression Lysate: HAO1
    GenScript Custom Purified and Recombinant Proteins Services for HAO1 
    Novus Biologicals Proteins for HAO1
    Novus Biologicals Lysate for HAO1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777 peroxisome TAS10777549
    GO:0005782 peroxisomal matrix TAS--
    About this table

    HAO1 for ontologies           About GeneDecksing



    Antibodies for HAO1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HAO1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for HAO1 
    Novus Biologicals Antibody for HAO1
    Browse antibodies at Epitomics

    Assays for HAO1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HAO1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for HAO1 


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

    HAO1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR012133 Alpha-hydoxy_acid_DH_FMN
     IPR000262 FMN-dep_DH
     IPR008259 FMN_hydac_DH_AS

    Graphical View of Domain Structure for InterPro Entry Q9UJM8

    ProtoNet protein and cluster: Q9UJM8

    1 Blocks protein family: IPB000262 FMN-dependent alpha-hydroxy acid dehydrogenase

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Similarity: Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family
    Similarity: Contains 1 FMN hydroxy acid dehydrogenase domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Function: Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on
    2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate
    Catalytic activity: (S)-2-hydroxy acid + O(2) = 2-oxo acid + H(2)O(2)
    Biophysicochemical properties: Kinetic parameters: KM=141 uM for glycolate; KM=40 uM for 2-hydroxy octanoate; KM=2200
    uM for glyoxylate;
    Enzyme Number (IUBMB): EC 1.1.3.15 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HAO1
    Sigma-Aldrich shRNA for HAO1
    OriGene 29mer shRNA kits in GFP-retroviral vector: HAO1
    OriGene shRNA RFP: HAO1
    OriGene basic RS shRNA: HAO1
    OriGene siRNA: HAO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HAO1 
    miRNA:Sigma-Aldrich microRNA Mimics for HAO1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HAO1 
    2 SABiosciences Assays for microRNAs that regulate HAO1:
    hsa-miR-1197 hsa-miR-660

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HAO1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HAO1
    OriGene untagged cDNA clones in CMV expression vector: HAO1
    OriGene 3'-UTR clone: HAO1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: HAO1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for HAO1 

    Genatlas biochemistry entry for HAO1:
    hydroxyacid oxidase 1,glycolate oxidase

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003973 (S)-2-hydroxy-acid oxidase activity TAS10777549
    GO:0008891 glycolate oxidase activity TAS--
    GO:0010181 FMN binding IDA18215067
    GO:0016491 oxidoreductase activity IEA--
    GO:0047969 glyoxylate oxidase activity TAS--
    About this table

    HAO1 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    HAO1 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  HAO1
        Glyoxylate and Dicarboxylate Metabolism

    3 Kegg Pathways  (Kegg details for HAO1):
        hsa00630 Glyoxylate and dicarboxylate metabolism
    hsa01100 Metabolic pathways
    hsa04146 Peroxisome

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Pathway: Organic acid metabolism; glycolate degradation; 3-phospho-D-glycerate from glycolate: step 1/4

        SABiosciences Custom Pathway-Focused PCR Arrays for HAO1 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HAO1
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HAO1

    4 Interacting proteins for HAO1 (ENSP000003680663) via UniProtKB, MINT, and/or STRING

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGXTENSP000003026203STRING: ENSP00000302620
    DAOENSP000002284763STRING: ENSP00000228476
    AGXT2ENSP000002314203STRING: ENSP00000231420
    HAO2ENSP000003584283STRING: ENSP00000358428
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561 fatty acid alpha-oxidation TAS10777549
    GO:0006979 response to oxidative stress IEA--
    GO:0046296 glycolate catabolic process IDA18215067
    GO:0046487 glyoxylate metabolic process EXP15956068
    GO:0055114 oxidation-reduction process IEA--
    About this table

    HAO1 for ontologies           About GeneDecksing



    (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

    HAO1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HAO1
    10/52 Novoseek chemical compound relationships for HAO1 gene (see all 52)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 82.3 475 17365439 (5), 16870421 (3), 19505077 (3), 19269439 (3) (see all 99)
    nafion 82.2 9 16275055 (1), 15967398 (1), 19071561 (1), 16219381 (1) (see all 7)
    agcl 78.1 1 15649080 (1)
    fadh2 77.4 8 15461503 (2), 12622383 (1), 15970532 (1), 15649080 (1)
    poly(dimethyl diallyl ammonium chloride) 77.1 7 18180205 (2), 16430853 (1), 16207046 (1), 17314038 (1)
    poly(1-vinylimidazole) 75.5 2 14516076 (1), 15794489 (1)
    ferrocenemethanol 73.6 1 16471810 (1)
    platinum 71.1 20 9491756 (1), 19112013 (1), 20388977 (1), 15284922 (1) (see all 13)
    ethylene glycol diglycidyl ether 70.9 2 7733469 (1)
    ferrocene 70 19 19505077 (2), 8797376 (2), 12298004 (2), 11411531 (2) (see all 10)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HAO1
    Sigma-Aldrich shRNA for HAO1
    OriGene 29mer shRNA kits in GFP-retroviral vector: HAO1
    OriGene shRNA RFP: HAO1
    OriGene basic RS shRNA: HAO1
    OriGene siRNA: HAO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HAO1 
    miRNA: Sigma-Aldrich microRNA Mimics for HAO1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HAO1 
    2 SABiosciences Assays for microRNAs that regulate HAO1:
    hsa-miR-1197 hsa-miR-660
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HAO1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HAO1
    OriGene untagged cDNA clones in CMV expression vector: HAO1
    OriGene 3'-UTR Clone: HAO1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: HAO1 
    Primers: OriGene genome-wide validated SYBR primer pairs: HAO1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HAO1: PPH14086A

    REFSEQ mRNAs for HAO1 gene: 

    NM_017545.2  

    Additional cDNA sequence: 

    AB024079.1 AF231916.1 AF244134.1 AK289423.1 AK308963.1 AK313839.1 AL121739.1 BC113665.1 
    BC113667.1 

    2 DOTS entries:

    DT.105299  DT.99965022 

    24/28 AceView cDNA sequences (see all 28):

    C20914 NM_017545 AB024079 CB161531 AI913732 AF244134 AL121739 BG656034 
    AW772047 AV682372 AV646933 AL449681 CB163751 BG568066 BX094967 AV647445 
    H70488 AF231916 H69642 BG656337 T72614 AL449669 T74667 T97636 

    highest scoring ESTs for HAO1:

    AB024079 AF231916 AF244134 AI913732 AL121739 AL449668 AL449669 AL449681 T58830 T64673 

    Unigene Cluster for HAO1:

    Hydroxyacid oxidase (glycolate oxidase) 1
    Hs.193640  [show with all ESTs]
    Unigene Representative Sequence: AL121739


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000378789(uc002wmw.1 uc010gbu.2)

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    HAO1 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching HAO1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35891_at2, 3 U95-A 1 1.00 1.00 0.98 1.03 AB024079 1.00 1.00 1.00 1
    60957_at2, 3 U95-C 1 0.69 1.00 0.99 1.03 AI913732 0.80 1.00 0.91 1
    220224_at2, 3 U133-A 1 0.91 1.00 -- -- NM_017545 0.60 1.00 0.82 1
    220224_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    HAO1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    HAO1 gene expression
    HAO1 gene electronic northern expression
    HAO1 gene sage expression
    About these images

    CGAP SAGE TAG: TCTTTAAAAC

    SOURCE GeneReport for Unigene cluster: Hs.193640

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Tissue specificity: Liver

    Primers: OriGene genome-wide validated SYBR primer pairs: HAO1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HAO1: PPH14086A
        SABiosciences Custom PCR Arrays for HAO1 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for HAO1 gene from 5/20 species (see all 20)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HAO11   -- hydroxyacid oxidase (glycolate oxidase) 1 87.39(n)
    88.11(a)
    485774  XM_854694.1  XP_859787.1 
    chimpanzee
    (Pan troglodytes)
    HAO11   -- hydroxyacid oxidase (glycolate oxidase) 1 99.46(n)
    100(a)
    747888  XM_001167611.1  XP_001167611.1 
    cow
    (Bos taurus)
    HAO11   -- hydroxyacid oxidase (glycolate oxidase) 1 89.01(n)
    92.16(a)
    533957  XM_613535.3  XP_613535.2 
    rat
    (Rattus norvegicus)
    Hao11   -- hydroxyacid oxidase 1, liver 85.86(n)
    89.46(a)
    311446  XM_230613.4  XP_230613.2 
    mouse
    (Mus musculus)
    Hao11 , 5 2 (65.65 cM)5
    hydroxyacid oxidase 1, liver1, 5 87.12(n)1
    89.46(a)1
    151121  NM_010403.21  NP_034533.11 
     AF1043125  AI1958655  (see all 9)
    About this table        Species with no ortholog for HAO1

    ENSEMBL Gene Tree for HAO1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for HAO1 gene
    HAO22  

    HAO1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/698 NCBI SNPs in HAO1 are shown (see all 698)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs9414251,2
    C,F,O,A,7905283(-) TTCTGC/TTTGAA 1 -- int1107Minor allele frequency- T:0.21NS EA PA EU CA WA NA 8244
    rs9414261,2
    C,F,A,7905050(-) TGGATT/CTGACA 1 -- int1106Minor allele frequency- C:0.46NS MN EA NA PA EU CA WA 8236
    rs10283101,2
    C,F,A,H,7897326(-) TTATTA/TCATTT 1 -- int118Minor allele frequency- T:0.21NA PA NS EA WA 944
    rs15409011,2
    C,F,O,A,7894274(-) AAAACA/CATATA 1 -- int115Minor allele frequency- C:0.31MN NS EA NA WA 962
    rs15694531,2
    C,F,A,H,7899591(-) ATGAGT/ACAGTG 1 -- int120Minor allele frequency- A:0.31MN NS EA NA WA 1340
    rs15694541,2
    C,F,O,A,H,7877416(-) GAACTT/GGATAA 1 -- int115Minor allele frequency- G:0.16NS EA NA WA 2036
    rs18832091,2
    C,F,O,A,7919396(-) attccC/Actgga 1 -- int19Minor allele frequency- A:0.41NA EA WA 358
    rs18832101,2
    C,F,A,7919085(-) CAGTGC/TCACCT 1 -- int111Minor allele frequency- T:0.50EA MN NA WA 2020
    rs18832111,2
    C,F,A,7905138(-) ATTATA/GATTCC 1 -- int18Minor allele frequency- G:0.14MN NS EA NA WA 710
    rs19835591,2
    C,F,A,H,7892334(-) GGTCCC/TGTCTC 1 -- int118Minor allele frequency- T:0.40MN NS EA NA WA 1160
    About this table

    HapMap Linkage Disequilibrium images for HAO1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HAO1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing HAO1 

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

    HAO1 for disorders           About GeneDecksing

    OMIM: 605023

    1 Novoseek disease relationship for HAO1 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoglycemia 0 1 17365439 (1)
    About this table

    Human Genome Epidemiology (HuGE) Navigator: HAO1 (1 document)

    Export disorders and mutations for HAO1 gene to outside databases

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

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

    10/220 PubMed articles for HAO1 gene, integrated from 7 sources (see all 220):
    (articles sorted by number of sources associating them with HAO1)
    1. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. (PubMed id 10777549)1, 2, 7 Jones J.M.... Gould S.J. (2000)
    2. Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole. (PubMed id 20054120)1, 2 Bourhis J.M....Lindqvist Y. (2009)
    3. Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design. (PubMed id 18215067)1, 2 Murray M.S....Lowther W.T. (2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. Identification and expression of a cDNA for human glycolate oxidase. (PubMed id 10978532)1, 2 Williams E.L.... Rumsby G. (2000)
    7. Molecular cloning of mouse glycolate oxidase. High evolutionary conservation and presence of an iron-responsive element-like sequence in the mRNA. (PubMed id 9891009)1, 3 Kohler S.A....Kuhn L.C. (1999)
    8. Genome-wide association study of childhood acute lymp hoblastic leukemia in Korea. (PubMed id 20189245)1 Han S....Kang D. (2010)
    9. Purification and characterization of recombinant human liver glycolate oxidase. (PubMed id 17669354)1 Vignaud C....Lederer F. (2007)
    10. Primary hyperoxaluria: from gene defects to designer drugs? (PubMed id 15956068)1 Danpure C.J. (2005)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54363 HGNC: 4809 AceView: HAO1 Ensembl:ENSG00000101323 euGenes: HUgn54363
    ECgene: HAO1 Kegg: 54363 H-InvDB: HAO1

    (According to HUGE)
    About This Section
      --

    (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
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for HAO1 gene:
    Search GeneIP for patents involving HAO1

    GeneCards and IP:
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     ELISAs and CLIAs for HAO1
           

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