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Aliases for HAO1 Gene

Aliases for HAO1 Gene

  • Hydroxyacid Oxidase 1 2 3
  • Hydroxyacid Oxidase (Glycolate Oxidase) 1 2 3 5
  • 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 Mite Infestation. Among its related pathways are Glyoxylate metabolism and glycine degradation and Carbon metabolism. GO annotations related to this gene include receptor binding and FMN binding. An important paralog of this gene is HAO2.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAO1 Gene

Genomics for HAO1 Gene

Regulatory Elements for HAO1 Gene

Enhancers for HAO1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HAO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HAO1 Gene

Chromosome:
20
Start:
7,882,981 bp from pter
End:
7,940,474 bp from pter
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

Proteomics data for HAO1 Gene at MOPED

Post-translational modifications for HAO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for HAO1 (Hydroxyacid Oxidase-1/HAO-1)
  • Abcam antibodies for HAO1

No data available for DME Specific Peptides for HAO1 Gene

Domains & Families for HAO1 Gene

Suggested Antigen Peptide Sequences for HAO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJM8

UniProtKB/Swiss-Prot:

HAOX1_HUMAN :
  • Contains 1 FMN hydroxy acid dehydrogenase domain.
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
Domain:
  • Contains 1 FMN hydroxy acid dehydrogenase domain.
Family:
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
genes like me logo Genes that share domains with HAO1: view

No data available for Gene Families for HAO1 Gene

Function for HAO1 Gene

Molecular function for HAO1 Gene

GENATLAS Biochemistry:
hydroxyacid oxidase 1,glycolate oxidase
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};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-hydroxy acid + O(2) = 2-oxo acid + H(2)O(2).
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.

Enzyme Numbers (IUBMB) for HAO1 Gene

Gene Ontology (GO) - Molecular Function for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 20178365
GO:0008891 glycolate oxidase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0052853 long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity IEA --
genes like me logo Genes that share ontologies with HAO1: view

Phenotypes for HAO1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models 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
Jensen Localization Image for HAO1 Gene COMPARTMENTS Subcellular localization image for HAO1 gene
Compartment Confidence
peroxisome 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components 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:0046487 glyoxylate 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin Mononucleotide Experimental Pharma Target 6
(2S)-2-HYDROXYOCTANOIC ACID Experimental Pharma Target 0
3-(INDOL-3-YL) LACTATE Experimental Pharma Target 0
3-Decyl-2,5-Dioxo-4-Hydroxy-3-Pyrroline Experimental Pharma Target 0
4-Carboxy-5-(1-Pentyl)Hexylsulfanyl-1,2,3-Triazole Experimental Pharma Target 0

(39) Additional Compounds for HAO1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with HAO1: view

Transcripts for HAO1 Gene

mRNA/cDNA for HAO1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HAO1 Gene

Hydroxyacid oxidase (glycolate oxidase) 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for HAO1 Gene

GeneLoc Exon Structure for
HAO1
ECgene alternative splicing isoforms for
HAO1

Expression for HAO1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for HAO1 Gene



SOURCE GeneReport for Unigene cluster for HAO1 Gene Hs.193640

mRNA Expression by UniProt/SwissProt for HAO1 Gene

Q9UJM8-HAOX1_HUMAN
Tissue specificity: Liver.
genes like me logo Genes that share expression patterns with HAO1: view

Protein tissue co-expression partners for HAO1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
dog
(Canis familiaris)
Mammalia HAO1 35
  • 89.37 (n)
  • 90.81 (a)
HAO1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hao1 35
  • 87.12 (n)
  • 89.46 (a)
Hao1 16
Hao1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HAO1 35
  • 99.46 (n)
  • 100 (a)
HAO1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hao1 35
  • 85.86 (n)
  • 89.46 (a)
cow
(Bos Taurus)
Mammalia HAO1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAO1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAO1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAO1 35
  • 71.64 (n)
  • 73.98 (a)
HAO1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAO1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1958 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3534 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2132 35
hao1 35
  • 65.48 (n)
  • 68.49 (a)
hao1 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18003 37
  • 48 (a)
CG18003 35
  • 54.08 (n)
  • 48.73 (a)
CG18003 36
  • 44 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010885 35
  • 53.41 (n)
  • 52.56 (a)
worm
(Caenorhabditis elegans)
Secernentea F41E6.5 37
  • 46 (a)
F41E6.5 35
  • 51.81 (n)
  • 46.86 (a)
F41E6.5 36
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB2 36
  • 25 (a)
OneToMany
CYB2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G18360 35
  • 55.97 (n)
  • 57.67 (a)
rice
(Oryza sativa)
Liliopsida Os03g0786100 35
  • 54.92 (n)
  • 57.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToOne
Species with no ortholog for HAO1:
  • 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)

Paralogs for HAO1 Gene

Paralogs for HAO1 Gene

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

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

Variants for HAO1 Gene

Sequence variations from dbSNP and Humsavar for HAO1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1028310 -- 7,916,679(-) TTATT(A/T)CATTT intron-variant
rs1883209 -- 7,938,749(-) ATTCC(A/C)CTGGA intron-variant
rs1883210 -- 7,938,438(-) CAGTG(C/T)CACCT intron-variant
rs1883211 -- 7,924,491(-) ATTAT(A/G)ATTCC intron-variant
rs2223274 -- 7,907,309(-) TGTGG(A/G)TTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912652 CNV Gain 21882294
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)

Relevant External Links for HAO1 Gene

Human Gene Mutation Database (HGMD)
HAO1

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

Disorders for HAO1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAO1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mite infestation
  • mite infestations
- elite association - COSMIC cancer census association via MalaCards
Search HAO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HAO1

Genetic Association Database (GAD)
HAO1
Human Genome Epidemiology (HuGE) Navigator
HAO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAO1
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 J.M. … Gould S.J. (J. Biol. Chem. 2000) 3 4 23 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  5. Molecular cloning of mouse glycolate oxidase. High evolutionary conservation and presence of an iron-responsive element-like sequence in the mRNA. (PMID: 9891009) Kohler S.A. … KA1hn L.C. (J. Biol. Chem. 1999) 2 3

Products for HAO1 Gene

Sources for HAO1 Gene

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