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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
glycolate oxidase deficiency	Pathogenic	rs768618504	RCV003459941	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis, calcium oxalate	association	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	39519124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38297313	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	28752386		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31446444	Associate	★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	12110000, 28752386		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21477371, 28284922	Stimulate	★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	26689264		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30143257		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28284922	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35038243	Stimulate	★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30143257		★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	21458484		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	CLINVAR_DG	24886237		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	27432743, 29914758		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	24996905, 26689264, 26758691, 26854734, 30575740		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations