Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54363
Gene name Gene Name - the full gene name approved by the HGNC.	Hydroxyacid oxidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HAO1
Synonyms (NCBI Gene) Gene synonyms aliases	GO, GOX, GOX1, HAOX1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GO
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p12.3
Summary Summary of gene provided in NCBI Entrez 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, th

Show/Hide all(12)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001561	Process	Fatty acid alpha-oxidation	IBA	21873635
GO:0001561	Process	Fatty acid alpha-oxidation	IDA	18215067
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IDA	10777549, 18215067
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	10777549
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008891	Function	Glycolate oxidase activity	IBA	21873635
GO:0008891	Function	Glycolate oxidase activity	IDA	10777549, 18215067
GO:0010181	Function	FMN binding	IDA	18215067
GO:0034641	Process	Cellular nitrogen compound metabolic process	TAS
GO:0046296	Process	Glycolate catabolic process	IDA	18215067
GO:0046296	Process	Glycolate catabolic process	IEA
GO:0052852	Function	Very-long-chain-(S)-2-hydroxy-acid oxidase activity	IEA
GO:0052853	Function	Long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity	IEA
GO:0052854	Function	Medium-chain-(S)-2-hydroxy-acid oxidase activity	IEA

MIM	HGNC	e!Ensembl
605023	4809	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

Interactions

View interactions

	KEGG		Reactome
	Glyoxylate and dicarboxylate metabolism Metabolic pathways Carbon metabolism Peroxisome		Glyoxylate metabolism and glycine degradation Peroxisomal protein import

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Nephronophthisis	NEPHROLITHIASIS, CALCIUM OXALATE	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856 View all (190 more)	24886237
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
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

HAO1 (hydroxyacid oxidase 1)