HAO1 - hydroxyacid oxidase 1 Gene

Homo sapiens

Also known as GO; GOX; GOX1; HAOX1

Gene ID: 54363 | Gene type: protein coding

About HAO1

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:7,882,985-7,940,458 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and 2 paralogues. Restricted expression toward liver (RPKM 144.8).

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, 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]

HAO1 Products(1)

mRNA	Protein	Name
NM_017545.3	NP_060015.1	2-Hydroxyacid oxidase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables (S)-2-hydroxy-acid oxidase activity	IDA IDA: Inferred from direct assay	10777549	GOA
enables FMN binding	IDA IDA: Inferred from direct assay	18215067	GOA
enables glyoxylate oxidase activity	IDA IDA: Inferred from direct assay	10777549	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid alpha-oxidation	IDA IDA: Inferred from direct assay	18215067	GOA
involved in glycolate catabolic process	IDA IDA: Inferred from direct assay	18215067	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in peroxisomal matrix	IDA IDA: Inferred from direct assay	10777549	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAO1 Protein Structure

FMN_dh

0
100
200
300
370 a.a.

Protein Preferred Names

Protein Names

2-Hydroxyacid oxidase 1

(S)-2-hydroxy-acid oxidase

Recombinant HAO1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70932	HAO1 Protein, Human (Trx-His)	Q9UJM8 (M1-I370)	≥95%

Related Diseases

Diseases

Alias

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Dermatitis, Atopic, 3

ATOD3	Dermatitis, Atopic, Susceptibility To, 3
Atopic Dermatitis 3	Dermatitis, Atopic, With Asthma
Dermatitis, Atopic 3	Atopic Dermatitis With Asthma

Gastrointestinal Tularemia

Enteric Tularemia

Intestinal Tularaemia

Craniofacial-Deafness-Hand Syndrome

CDHS	Craniofacial Deafness Hand Syndrome
Sommer-Young-Wee-Frye Syndrome	Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss
Craniofacial-Hearing Loss-Hand Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05998	HAO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HAO1	VGNC	VGNC:80111
Macaca mulatta	HAO1	VGNC	VGNC:81415
Mus musculus	HAO1	MGD	MGI:96011
Canis familiaris	HAO1	VGNC	VGNC:41590
Rattus norvegicus	HAO1	RGD	RGD:1589750
Bos taurus	HAO1	VGNC	VGNC:55050
Others	HAO1	NCBI

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