HAO1 (hydroxyacid oxidase 1)

Gene

• Entrez ID: 54363
• Gene name: Hydroxyacid oxidase 1
• Gene symbol: HAO1
• Synonyms (NCBI Gene): GO, GOX, GOX1, HAOX1
• Chromosome: 20
• Chromosome location: 20p12.3
• Summary: 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, th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1040604	hsa-miR-1297	CLIP-seq
MIRT1040605	hsa-miR-26a	CLIP-seq
MIRT1040606	hsa-miR-26b	CLIP-seq
MIRT1040607	hsa-miR-374c	CLIP-seq
MIRT1040608	hsa-miR-4465	CLIP-seq
MIRT1040609	hsa-miR-4728-3p	CLIP-seq
MIRT1040610	hsa-miR-655	CLIP-seq
MIRT2008506	hsa-miR-4307	CLIP-seq
MIRT2240952	hsa-miR-132	CLIP-seq
MIRT2240953	hsa-miR-212	CLIP-seq
MIRT2008506	hsa-miR-4307	CLIP-seq
MIRT2240954	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001561	Process	Fatty acid alpha-oxidation	IDA	18215067
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IDA	10777549, 18215067
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	IDA	10777549
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006545	Process	Glycine biosynthetic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0010181	Function	FMN binding	IDA	18215067
GO:0010181	Function	FMN binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019395	Process	Fatty acid oxidation	IEA
GO:0046296	Process	Glycolate catabolic process	IDA	18215067
GO:0047969	Function	Glyoxylate oxidase activity	IDA	10777549, 17669354
GO:0047969	Function	Glyoxylate oxidase activity	IEA

Other IDs

• MIM: 605023
• HGNC: 4809
• e!Ensembl: ENSG00000101323

Protein

• UniProt ID: Q9UJM8
• Protein name: 2-Hydroxyacid oxidase 1 (HAOX1) (EC 1.1.3.15) (Glycolate oxidase) (GO) (GOX) (Glyoxylate oxidase) (EC 1.2.3.5)
• Protein function: Broad substrate specificity (S)-2-hydroxy-acid oxidase that preferentially oxidizes glycolate (PubMed:10777549, PubMed:10978532, PubMed:17669354, PubMed:18215067). The glyoxylate produced by the oxidation of glycolate can then be utilized by ala
• PDB: 2NZL, 2RDT, 2RDU, 2RDW, 2W0U, 5QIB, 5QIC, 5QID, 5QIE, 5QIF, 5QIG, 5QIH, 6GMB, 6GMC, 6W44, 6W45, 6W4C, 7M2O, 7R4N, 7R4O, 7R4P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01070	FMN_dh	15 → 362	FMN-dependent dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in liver. {ECO:0000269|PubMed:10777549, ECO:0000269|PubMed:10978532}.
• Sequence:

  MLPRLICINDYEQHAKSVLPKSIYDYYRSGANDEETLADNIAAFSRWKLYPRMLRNVAET
  DLSTSVLGQRVSMPICVGATAMQRMAHVDGELATVRACQSLGTGMMLSSWATSSIEEVAE
  AGPEALRWLQLYIYKDREVTKKLVRQAEKMGYKAIFVTVDTPYLGNRLDDVRNRFKLPPQ
  LRMKNFETSTLSFSPEENFGDDSGLAAYVAKAIDPSISWEDIKWLRRLTSLPIVAKGILR
  GDDAREAVKHGLNGILVSNHGARQLDGVPATIDVLPEIVEAVEGKVEVFLDGGVRKGTDV
  LKALALGAKAVFVGRPIVWGLAFQGEKGVQDVLEILKEEFRLAMALSGCQNVKVIDKTLV
  RKNPLAVSKI

• Sequence length: 370

Pathways

KEGG:

Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
Peroxisome

Reactome:

Glyoxylate metabolism and glycine degradation
Peroxisomal protein import

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
glycolate oxidase deficiency	Pathogenic	rs768618504	RCV003459941

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Nephrolithiasis, calcium oxalate	association	rs6055363, rs2294305, rs2235250, rs2294301, rs2423326, rs6118004, rs2205818, rs2142697, rs6140463, rs2235245, rs2255183	RCV000128597 RCV000128598 RCV000128599 RCV000128600 RCV000128601 RCV000128602 RCV000128603 RCV000128604 RCV000128605 RCV000128606 RCV000128607

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	39519124
Carcinoma Renal Cell	Associate	38297313
Diabetes Mellitus	Associate	31446444
Hypoxia	Stimulate	21477371, 28284922
Kidney Calculi	Associate	24886237
Leukemia Myeloid Acute	Associate	28284922
Metabolic Syndrome	Stimulate	35038243