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 substr... See more...

Aliases for HAO1 Gene

Aliases for HAO1 Gene

  • Hydroxyacid Oxidase 1 2 3 4 5
  • Hydroxyacid Oxidase (Glycolate Oxidase) 1 2 3
  • Glycolate Oxidase 1 2 3
  • HAOX1 3 4
  • GOX1 3 4
  • GOX 3 4
  • (S)-2-Hydroxy-Acid Oxidase 3
  • Glycolate Oxidase 4
  • EC 1.1.3.15 4

External Ids for HAO1 Gene

Previous HGNC Symbols for HAO1 Gene

  • GOX1

Previous GeneCards Identifiers for HAO1 Gene

  • GC20M007851
  • GC20M007858
  • GC20M007811

Summaries for HAO1 Gene

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 1) is a Protein Coding gene. Diseases associated with HAO1 include Primary Hyperoxaluria and Dermatitis, Atopic, 3. Among its related pathways are Carbon metabolism and Glyoxylate and dicarboxylate metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and FMN binding. An important paralog of this gene is HAO2.

UniProtKB/Swiss-Prot Summary for HAO1 Gene

  • 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.

Additional gene information for HAO1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAO1 Gene

Genomics for HAO1 Gene

GeneHancer (GH) Regulatory Elements for HAO1 Gene

Promoters and enhancers for HAO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J007940 Promoter 0.7 EPDnew 500.7 0.0 -20 0.1 ZBTB33 JUND RAD21 RXRA MAX HNF4A REST ARID3A YY1 TAF1 HAO1 piR-61101-391
GH20J007924 Enhancer 1 FANTOM5 Ensembl ENCODE 1.5 +14.9 14857 3.2 CTCF FOS CREB1 FOXA2 CEBPB SMC3 RAD21 JUND BATF MAFK lnc-TMX4-2 TMX4 HAO1 RF00994-567
GH20J007936 Enhancer 0.7 ENCODE 0.7 +3.8 3849 0.2 EP300 CTCF NRF1 ZBTB26 RAD21 TRIM22 ESRRA FOXA2 SMC3 ZBTB17 HAO1 lnc-TMX4-1
GH20J007937 Enhancer 0.6 CraniofacialAtlas 0.7 +4.3 4304 0.4 CTCF ZBTB26 FOXA2 ZBTB17 ZNF335 NRF1 MAX KDM1A E2F1 ZNF366 HAO1 lnc-TMX4-1
GH20J007935 Enhancer 0.6 Ensembl 0.4 +5.0 5026 0.3 TRIM22 MEF2B SMARCA5 IKZF1 BMI1 TBX21 ZNF217 SPI1 CREM MTA2 HAO1 lnc-TMX4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAO1

Top Transcription factor binding sites by QIAGEN in the HAO1 gene promoter:
  • C/EBPalpha
  • GR
  • GR-alpha
  • GR-beta
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • PPAR-alpha
  • SRF (504 AA)

Genomic Locations for HAO1 Gene

Genomic Locations for HAO1 Gene
chr20:7,882,984-7,940,458
(GRCh38/hg38)
Size:
57,475 bases
Orientation:
Minus strand
chr20:7,863,628-7,921,121
(GRCh37/hg19)
Size:
57,494 bases
Orientation:
Minus strand

Genomic View for HAO1 Gene

Genes around HAO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAO1 Gene

Proteins for HAO1 Gene

  • Protein details for HAO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJM8-HAOX1_HUMAN
    Recommended name:
    Hydroxyacid oxidase 1
    Protein Accession:
    Q9UJM8
    Secondary Accessions:
    • Q14CQ0
    • Q9UPZ0
    • Q9Y3I7

    Protein attributes for HAO1 Gene

    Size:
    370 amino acids
    Molecular mass:
    40924 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HAO1 Gene

neXtProt entry for HAO1 Gene

Post-translational modifications for HAO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAO1 Gene

Domains & Families for HAO1 Gene

Gene Families for HAO1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HAO1 Gene

Blocks:
  • FMN-dependent alpha-hydroxy acid dehydrogenase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAO1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94465, Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1),mRNA (A8K058_HUMAN)
  • Glycolate oxidase (HAOX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJM8

UniProtKB/Swiss-Prot:

HAOX1_HUMAN :
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
Family:
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
genes like me logo Genes that share domains with HAO1: view

Function for HAO1 Gene

Molecular function for HAO1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (2S)-2-hydroxycarboxylate + O2 = a 2-oxocarboxylate + H2O2; Xref=Rhea:RHEA:16789, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:35179, ChEBI:CHEBI:58123; EC=1.1.3.15; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=141 uM for glycolate {ECO:0000269 PubMed:18215067}; KM=40 uM for 2-hydroxy octanoate {ECO:0000269 PubMed:18215067}; KM=2200 uM for glyoxylate {ECO:0000269 PubMed:18215067};
GENATLAS Biochemistry:
hydroxyacid oxidase 1,glycolate oxidase

Enzyme Numbers (IUBMB) for HAO1 Gene

Phenotypes From GWAS Catalog for HAO1 Gene

Gene Ontology (GO) - Molecular Function for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003973 (S)-2-hydroxy-acid oxidase activity IDA 10777549
GO:0004459 L-lactate dehydrogenase activity IBA 21873635
GO:0008891 glycolate oxidase activity IDA,IBA 10777549
GO:0010181 FMN binding IDA 18215067
genes like me logo Genes that share ontologies with HAO1: view
genes like me logo Genes that share phenotypes with HAO1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HAO1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAO1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAO1 Gene

Localization for HAO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAO1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAO1 gene
Compartment Confidence
peroxisome 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IBA,IDA 10777549
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HAO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAO1 Gene

Pathways & Interactions for HAO1 Gene

genes like me logo Genes that share pathways with HAO1: view

UniProtKB/Swiss-Prot Q9UJM8-HAOX1_HUMAN

  • Pathway: Organic acid metabolism; glycolate degradation; 3-phospho-D-glycerate from glycolate: step 1/4.

Gene Ontology (GO) - Biological Process for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation IDA 18215067
GO:0006625 protein targeting to peroxisome TAS --
GO:0006979 response to oxidative stress IEA --
GO:0019516 lactate oxidation IBA 21873635
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with HAO1: view

No data available for SIGNOR curated interactions for HAO1 Gene

Drugs & Compounds for HAO1 Gene

(29) Drugs for HAO1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin Mononucleotide Approved, Investigational Pharma Target 11
Oxygen Approved, Vet_approved Pharma 0
Glycolic acid Approved, Investigational Pharma 27
Hydrogen peroxide Approved, Vet_approved Pharma 103
(2S)-2-HYDROXYOCTANOIC ACID Experimental Pharma Target 0

(35) Additional Compounds for HAO1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HAO1: view

Transcripts for HAO1 Gene

mRNA/cDNA for HAO1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAO1

Alternative Splicing Database (ASD) splice patterns (SP) for HAO1 Gene

No ASD Table

Relevant External Links for HAO1 Gene

GeneLoc Exon Structure for
HAO1

Expression for HAO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAO1 Gene

mRNA differential expression in normal tissues according to GTEx for HAO1 Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for HAO1 Gene

This gene is overexpressed in Liver (30.9), Gallbladder (23.2), and Liver, secretome (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAO1 Gene



Protein tissue co-expression partners for HAO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAO1

SOURCE GeneReport for Unigene cluster for HAO1 Gene:

Hs.193640

mRNA Expression by UniProt/SwissProt for HAO1 Gene:

Q9UJM8-HAOX1_HUMAN
Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for HAO1 Gene

  • Liver(4.6)
genes like me logo Genes that share expression patterns with HAO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAO1 Gene

Orthologs for HAO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HAO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAO1 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HAO1 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAO1 31 30
  • 89.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hao1 17 31 30
  • 87.12 (n)
rat
(Rattus norvegicus)
Mammalia Hao1 30
  • 85.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HAO1 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAO1 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAO1 31 30
  • 71.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAO1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1958 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3534 30
zebrafish
(Danio rerio)
Actinopterygii hao1 31 30
  • 65.48 (n)
OneToOne
Dr.2132 30
fruit fly
(Drosophila melanogaster)
Insecta CG18003 31 32 30
  • 54.08 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010885 30
  • 53.41 (n)
worm
(Caenorhabditis elegans)
Secernentea F41E6.5 31 32 30
  • 51.81 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB2 33 31
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G18360 30
  • 55.97 (n)
rice
(Oryza sativa)
Liliopsida Os03g0786100 30
  • 54.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToOne
Species where no ortholog for HAO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HAO1 Gene

ENSEMBL:
Gene Tree for HAO1 (if available)
TreeFam:
Gene Tree for HAO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAO1: view image

Paralogs for HAO1 Gene

Paralogs for HAO1 Gene

(1) SIMAP similar genes for HAO1 Gene using alignment to 3 proteins:

  • HAOX1_HUMAN
  • A8K058_HUMAN
  • L8E8S6_HUMAN
genes like me logo Genes that share paralogs with HAO1: view

Variants for HAO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAO1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs2142697 Association: Calcium oxalate urolithiasis 7,926,296(-) G/A INTRON_VARIANT
rs2205818 Association: Calcium oxalate urolithiasis 7,919,281(-) T/C INTRON_VARIANT
rs2235245 Association: Calcium oxalate urolithiasis 7,932,295(-) C/G INTRON_VARIANT
rs2235250 Association: Calcium oxalate urolithiasis 7,890,075(-) C/T INTRON_VARIANT
rs2255183 Association: Calcium oxalate urolithiasis 7,939,957(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HAO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HAO1 Gene

Variant ID Type Subtype PubMed ID
esv3893279 CNV gain 25118596
nsv1059059 CNV gain 25217958
nsv585384 CNV gain 21841781
nsv833915 CNV gain 17160897

Variation tolerance for HAO1 Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAO1 Gene

Human Gene Mutation Database (HGMD)
HAO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAO1 Gene

Disorders for HAO1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HAO1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary hyperoxaluria
  • glycolic aciduria
dermatitis, atopic, 3
  • atod3
mixed malaria
  • malaria by more than one parasite
nephrolithiasis, calcium oxalate
  • caon
- elite association - COSMIC cancer census association via MalaCards
Search HAO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HAO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAO1 Gene

Publications for HAO1 Gene

  1. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. (PMID: 10777549) Jones JM … Gould SJ (The Journal of biological chemistry 2000) 3 4 23 54
  2. Genome-wide association study of childhood acute lymphoblastic leukemia in Korea. (PMID: 20189245) Han S … Kang D (Leukemia research 2010) 3 41 54
  3. Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole. (PMID: 20054120) Bourhis JM … Lindqvist Y (Acta crystallographica. Section F, Structural biology and crystallization communications 2009) 3 4 54
  4. Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design. (PMID: 18215067) Murray MS … Lowther WT (Biochemistry 2008) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for HAO1 Gene

  • Signalway ELISA kits for HAO1
  • Signalway Proteins for HAO1

Sources for HAO1 Gene