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Aliases for HAO1 Gene

Aliases for HAO1 Gene

  • Hydroxyacid Oxidase (Glycolate Oxidase) 1 2 3
  • GOX1 3 4 6
  • Glycolate Oxidase 3 4
  • HAOX1 3 4
  • GOX 3 4
  • (S)-2-Hydroxy-Acid Oxidase 3
  • Hydroxyacid Oxidase 1 3
  • EC 1.1.3.15 4

External Ids for HAO1 Gene

Previous Symbols for HAO1 Gene

  • GOX1

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 (Glycolate Oxidase) 1) is a Protein Coding gene. Diseases associated with HAO1 include primary hyperoxaluria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include receptor binding and (S)-2-hydroxy-acid oxidase activity. 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

Genomic Location for HAO1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HAO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAO1 Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HAO1 Gene

Domains for HAO1 Gene

UniProtKB/Swiss-Prot:

HAOX1_HUMAN
Domain:
  • Contains 1 FMN hydroxy acid dehydrogenase domain.:
    • Q9UJM8
Family:
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.:
    • Q9UJM8
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:0003973 (S)-2-hydroxy-acid oxidase activity IDA 10777549
GO:0005102 receptor binding IPI 20178365
GO:0008891 glycolate oxidase activity TAS --
GO:0010181 FMN binding IDA 18215067
GO:0015930 glutamate synthase activity --
genes like me logo Genes that share ontologies with HAO1: view

Phenotypes for HAO1 Gene

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

No data available for Animal Models , miRNA , Transcription Factor Targeting 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
chloroplast 2
cytosol 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for HAO1 Gene

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

Pathways for HAO1 Gene

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

Pathways by source for HAO1 Gene

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:0006537 glutamate biosynthetic process --
GO:0006979 response to oxidative stress IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HAO1: view

Compounds for HAO1 Gene

(5) HMDB Compounds for HAO1 Gene

Compound Synonyms Cas Number PubMed IDs
Flavin Mononucleotide
  • FMN
146-17-8
Glycolic acid
  • 2-Hydroxyacetate
79-14-1
Glyoxylic acid
  • Formylformate
298-12-4
Hydrogen peroxide
  • Hydrogen peroxide
7722-84-1
Oxygen
  • Oxygen
7782-44-7

(10) Drugbank Compounds for HAO1 Gene

(52) Novoseek inferred chemical compound relationships for HAO1 Gene

Compound -log(P) Hits PubMed IDs
glucose 82.3 167
nafion 82.2 7
agcl 78.1 1
fadh2 77.4 5
poly(dimethyl diallyl ammonium chloride) 77.1 5
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 (52.4).

Integrated Proteomics: protein expression 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 expressions with HAO1: view

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 36
  • 99.46 (n)
  • 100 (a)
HAO1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAO1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAO1 36
  • 89.37 (n)
  • 90.81 (a)
HAO1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hao1 36
  • 87.12 (n)
  • 89.46 (a)
Hao1 16
Hao1 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAO1 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAO1 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hao1 36
  • 85.86 (n)
  • 89.46 (a)
chicken
(Gallus gallus)
Aves HAO1 36
  • 71.64 (n)
  • 73.98 (a)
HAO1 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAO1 37
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3534 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1958 36
zebrafish
(Danio rerio)
Actinopterygii Dr.2132 36
hao1 36
  • 65.48 (n)
  • 68.49 (a)
hao1 37
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010885 36
  • 53.41 (n)
  • 52.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18003 36
  • 54.08 (n)
  • 48.73 (a)
CG18003 37
  • 44 (a)
OneToMany
CG18003 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea F41E6.5 36
  • 51.81 (n)
  • 46.86 (a)
F41E6.5 37
  • 44 (a)
OneToMany
F41E6.5 38
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB2 37
  • 25 (a)
OneToMany
CYB2 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G18360 36
  • 55.97 (n)
  • 57.67 (a)
rice
(Oryza sativa)
Liliopsida Os03g0786100 36
  • 54.92 (n)
  • 57.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs941425 -- 7,924,636(-) TTCTG(C/T)TTGAA intron-variant
rs941426 -- 7,924,403(-) TGGAT(C/T)TGACA intron-variant
rs1028310 -- 7,916,679(-) TTATT(A/T)CATTT intron-variant
rs1540901 -- 7,913,627(-) AAAAC(A/C)ATATA intron-variant
rs1569453 -- 7,918,944(-) ATGAG(A/T)CAGTG 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

Relevant External Links for HAO1 Gene

HapMap Linkage Disequilibrium report
HAO1
Human Gene Mutation Database (HGMD)
HAO1

Disorders for HAO1 Gene

(1) MalaCards Diseases for HAO1 Gene

Search for HAO1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for HAO1 Gene

(1) Novoseek inferred disease relationships for HAO1 Gene

Disease -log(P) Hits PubMed IDs
hypoglycemia 0 1

Relevant External Links for HAO1

Genetic Association Database (GAD)
HAO1
Human Genome Epidemiology (HuGE) Navigator
HAO1
genes like me logo Genes that share disorders with HAO1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Identification and expression of a cDNA for human glycolate oxidase. (PMID: 10978532) Williams E.L. … Rumsby G. (Biochim. Biophys. Acta 2000) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for HAO1 Gene

Sources for HAO1 Gene

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