Hydroxyacid oxidase (glycolate oxidase) 1

Hydroxyacid oxidase (glycolate oxidase) 1 is a protein that in humans is encoded by the HAO1 gene.^[5]

HAO1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2NZL, 2RDT, 2RDU, 2RDW, 2W0U
Identifiers
Aliases	HAO1, GOX, GOX1, HAOX1, Hydroxyacid oxidase (glycolate oxidase) 1, hydroxyacid oxidase 1, GO
External IDs	OMIM: 605023; MGI: 96011; HomoloGene: 6578; GeneCards: HAO1; OMA:HAO1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.3 Start 7,882,985 bp[1] End 7,940,458 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 F2|2 65.65 cM Start 134,339,281 bp[2] End 134,396,288 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver kidney testicle islet of Langerhans human kidney gallbladder renal cortex body of pancreas blood intestinal epithelium Top expressed in left lobe of liver lumbar spinal ganglion sexually immature organism spermatid blastocyst ureter atrioventricular valve medial head of gastrocnemius muscle thoracic diaphragm pancreas More reference expression data BioGPS n/a
Gene ontology Molecular function (S)-2-hydroxy-acid oxidase activity oxidoreductase activity FMN binding signaling receptor binding catalytic activity glyoxylate oxidase activity Cellular component peroxisome peroxisomal matrix cytosol Biological process fatty acid alpha-oxidation response to oxidative stress glycolate catabolic process cellular nitrogen compound metabolic process protein targeting to peroxisome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54363 15112 Ensembl ENSG00000101323 ENSMUSG00000027261 UniProt Q9UJM8 Q9WU19 RefSeq (mRNA) NM_017545 NM_010403 RefSeq (protein) NP_060015 NP_034533 Location (UCSC) Chr 20: 7.88 – 7.94 Mb Chr 2: 134.34 – 134.4 Mb PubMed search [3] [4]
Wikidata
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Function

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. Glycolate oxidase oxidizes glycolic acid to glyoxylate, and can also oxidize glyoxylate into oxalate. These reactions are central to the toxicity of ethylene glycol poisoning.^[6]

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.^[5]