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

HAO1 Gene

protein-coding   GIFtS: 62
GCID: GC20M007863

Hydroxyacid Oxidase (Glycolate Oxidase) 1


(Previous symbol: GOX1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(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
Hydroxyacid Oxidase (Glycolate Oxidase) 11 2     HAOX12 3
GOX11 2 3 5     (S)-2-Hydroxy-Acid Oxidase2
Glycolate Oxidase2 3     Hydroxyacid Oxidase 12
GOX2 3     EC 1.1.3.153

External Ids:    HGNC: 48091   Entrez Gene: 543632   Ensembl: ENSG000001013237   OMIM: 6050235   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, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HAO1 Gene:
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, Jul 2008)

GeneCards Summary for HAO1 Gene: 
HAO1 (hydroxyacid oxidase (glycolate oxidase) 1) is a protein-coding gene. Diseases associated with HAO1 include primary hyperoxaluria, and nephrolithiasis, and among its related super-pathways are Metabolic pathways and glycine biosynthesis III. GO annotations related to this gene include (S)-2-hydroxy-acid oxidase activity and receptor binding. An important paralog of this gene is HAO2.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HAO1 gene promoter:
         GR   SRF (504 AA)   GR-beta   C/EBPalpha   PPAR-alpha   POU2F1   POU2F1b   POU2F1a   POU2F1c   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HAO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HAO1


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 information about chromosome 20         GeneLoc Exon Structure

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

Start:
7,863,628 bp from pter      End:
7,921,121 bp from pter
Size:
57,494 bases      Orientation:
minus 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: HAOX1_HUMAN, Q9UJM8 (See protein sequence)
Recommended Name: Hydroxyacid oxidase 1  
Size: 370 amino acids; 40924 Da
Cofactor: FMN
Subcellular location: Peroxisome
5 PDB 3D structures from and Proteopedia for HAO1:
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

Explore proteomics data for HAO1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UJM8

  • HAO1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HAO1 Protein Expression
    REFSEQ proteins: NP_060015.1  
    ENSEMBL proteins: 
     ENSP00000368066  
    Reactome Protein details: Q9UJM8
    Human Recombinant Protein Products for HAO1: 
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    Novus Biologicals HAO1 Proteins
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    Sino Biological Recombinant Protein for HAO1
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    ProSpec Recombinant Protein for HAO1
    Cloud-Clone Corp. Proteins for HAO1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA10777549
    GO:0005782peroxisomal matrix TAS--

    HAO1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for HAO1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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 domain: 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


    HAO1 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: 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;

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

         Enzyme Number (IUBMB): EC 1.1.3.151

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003973(S)-2-hydroxy-acid oxidase activity IDA10777549
    GO:0005102receptor binding IPI--
    GO:0008891glycolate oxidase activity TAS--
    GO:0010181FMN binding IDA18215067
    GO:0015930glutamate synthase activity ----
         
    HAO1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HAO1:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HAO1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HAO1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAO1 
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    hsa-miR-596 hsa-miR-4307 hsa-miR-1197 hsa-miR-128 hsa-miR-132 hsa-miR-1297 hsa-miR-374c hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidHAO1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAO1


    (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 HAO1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2glycine biosynthesis III
    Glyoxylate metabolism0.40
    3Peroxisome
    Peroxisome
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    5Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for HAO1
        Glyoxylate metabolism
    Metabolism
    Metabolism of amino acids and derivatives


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

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


    HAO1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HAO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/37 Interacting proteins for HAO1 (Q9UJM83 ENSP000003680664) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622693I2D: score=2 
    ENSG00000223367P622693I2D: score=2 
    ENSG00000226225P622693I2D: score=2 
    ENSG00000235650P622693I2D: score=2 
    RPS18P622693I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561fatty acid alpha-oxidation IDA18215067
    GO:0006537glutamate biosynthetic process ----
    GO:0006979response to oxidative stress IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    HAO1 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

    HAO1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HAO1 (HAOX1)

    5 HMDB Compounds for HAO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Glycolic acid2-Hydroxyacetate (see all 18)79-14-1--
    Glyoxylic acidFormylformate (see all 16)298-12-4--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    OxygenOxygen (see all 5)7782-44-7--

    10 DrugBank Compounds for HAO1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Benzoylformic Acid-- 611-73-4target--17139284 17016423 10592235
    Heme-- --target--17139284 17016423 10592235
    N-Sulfo-Flavin Mononucleotide-- --target--17139284 17016423 10592235
    Riboflavin Monophosphate-- 146-17-8target--17139284 17016423 10592235
    (2S)-2-HYDROXYOCTANOIC ACID-- --target--10592235
    3-(INDOL-3-YL) LACTATE-- --target--10592235
    3-Decyl-2,5-Dioxo-4-Hydroxy-3-Pyrroline-- --target--10592235
    3-Phenylpyruvic Acid-- --target--10592235
    4-Carboxy-5-(1-Pentyl)Hexylsulfanyl-1,2,3-Triazole-- --target--10592235
    5-(dodecylthio)-1H-1,2,3-triazole-4-carboxylic acid-- --target--10592235

    10/52 Novoseek inferred chemical compound relationships for HAO1 gene (see all 52)    About this table
    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)

    Search CenterWatch for drugs/clinical trials and news about HAO1 / HAOX1

    (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 HAO1 gene: 
    NM_017545.2  

    Unigene Cluster for HAO1:

    Hydroxyacid oxidase (glycolate oxidase) 1
    Hs.193640  [show with all ESTs]
    Unigene Representative Sequence: AL121739
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000378789(uc002wmw.1 uc010gbu.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

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

    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

    HAO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTAAAAC
    HAO1 Expression
    About this image


    See HAO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HAO1

    SOURCE GeneReport for Unigene cluster: Hs.193640

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAO1

    (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 HAO1 gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hao11 , 5 hydroxyacid oxidase 1, liver1, 5 87.12(n)1
    89.46(a)1
      2 (65.65 cM)5
    151121  NM_010403.21  NP_034533.11 
     1344973615 
    chicken
    (Gallus gallus)
    Aves HAO11 hydroxyacid oxidase (glycolate oxidase) 1 72.16(n)
    74.73(a)
      416728  NM_001199442.1  NP_001186371.1 
    lizard
    (Anolis carolinensis)
    Reptilia HAO16
    Uncharacterized protein
    77(a)
    1 ↔ 1
    1(135884049-135913779)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.35342 Xenopus laevis transcribed sequence with weak similarity more 73.14(n)    BJ036588.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.21322 Danio rerio cDNA clone IMAGE5914839, partial cds 72.95(n)    BC055638.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG180033 glycolate oxidase 48(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea F41E6.51 , 3 glycolate oxidase3
    Protein F41E6.51
    46(a)3
    51.81(n)1
    46.86(a)1
      V(8606190-8607675)3
    1792411  NM_001129469.11  NP_001122941.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYB2(YML054C)4 Cytochrome b2 (L-lactate cytochrome-c oxidoreductase), more   --   13(167308-165533) 854950  NP_013658.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G183601 (S)-2-hydroxy-acid oxidase 56(n)
    58(a)
      827563  NM_117946.2  NP_193570.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06235001 hypothetical protein 54.82(n)
    55.87(a)
      4337048  NM_001060460.1  NP_001053925.1 


    ENSEMBL Gene Tree for HAO1 (if available)
    TreeFam Gene Tree for HAO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HAO1 gene
    HAO22  
    1 SIMAP similar gene for HAO1 using alignment to 3 protein entries:     HAOX1_HUMAN (see all proteins):
    HAO2

    HAO1 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

    10/1370 SNPs in HAO1 are shown (see all 1370)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60389721,2
    C,F--7863173(+) gtgagT/Ctcttg 1 -- ds50014Minor allele frequency- C:0.15CSA WA 124
    rs622007721,2
    C--7863320(+) GGTATC/ACCCAT 1 -- ds50013Minor allele frequency- A:0.14NA 124
    rs1406936031,2
    C--7863471(+) AGCTA-/CCCTTG 1 -- ds50010--------
    rs60553631,2
    C,F,A,H--7863543(+) TAACCA/GATAAG 1 -- ds500123Minor allele frequency- G:0.21NS EA NA CSA WA 2650
    rs1403274471,2
    --7863547(+) CAATAA/GGGTAT 1 -- ds50010--------
    rs1840468551,2
    --7863553(+) GGTATA/GCAGAA 1 -- ds50010--------
    rs1503560851,2
    --7863631(+) GATATA/GTTCTT 1 -- ut310--------
    rs1872643121,2
    --7863752(+) ATTACC/TGCCAC 1 -- ut310--------
    rs1920912021,2
    --7863769(+) CAATTA/CTCTCC 1 -- ut310--------
    rs37479261,2
    C,F,A,H--7863999(+) GTTTTC/ATTTTT 1 -- ut31 trp316Minor allele frequency- A:0.19NS EA NA CSA WA 2218

    HapMap Linkage Disequilibrium report for HAO1 (7863628 - 7921121 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HAO1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912652CNV Gain21882294
    nsv833915CNV Gain17160897

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    (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: 605023    OMIM disorders: --

    11 diseases for HAO1:    About MalaCards
    primary hyperoxaluria    nephrolithiasis    adrenoleukodystrophy    hypoglycemia
    thrombosis    pneumonia    hepatitis c    tuberculosis
    hepatitis    endotheliitis    leukemia

    2 diseases from the University of Copenhagen DISEASES database for HAO1:
    Primary hyperoxaluria     Nephrolithiasis

    HAO1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HAO1 gene    About this table

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

    Genetic Association Database (GAD): HAO1
    Human Genome Epidemiology (HuGE) Navigator: HAO1 (1 document)

    Export disorders for HAO1 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 HAO1 gene, integrated from 9 sources (see all 226):
    (articles sorted by number of sources associating them with HAO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. (PubMed id 10777549)1, 2, 9 Jones J.M.... Gould S.J. (2000)
    2. Genome-wide association study of childhood acute lymp hoblastic leukemia in Korea. (PubMed id 20189245)1, 4 Han S....Kang D. (2010)
    3. 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)
    4. 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)
    5. 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)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Identification and expression of a cDNA for human glycolate oxidase. (PubMed id 10978532)1, 2 Williams E.L.... Rumsby G. (2000)
    8. 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)
    9. Genome-wide association analyses in East Asians identi fy new susceptibility loci for colorectal cancer. (PubMed id 23263487)1 Jia W.H....Zheng W. (2013)
    10. Stabilization of an intermediate in the oxidative half -reaction of human liver glycolate oxidase. (PubMed id 21141873)1 Pennati A. and Gadda G. (2011)

    (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: 54363 HGNC: 4809 AceView: HAO1 Ensembl:ENSG00000101323 euGenes: HUgn54363
    ECgene: HAO1 Kegg: 54363 H-InvDB: HAO1

    (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 HAO1 Pharmacogenomics, SNPs, Pathways

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

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



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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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