HAO1 hydroxyacid oxidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAO1provided by HGNC
Official Full Name: hydroxyacid oxidase 1provided by HGNC
Primary source: HGNC:HGNC:4809
See related: Ensembl:ENSG00000101323 MIM:605023; AllianceGenome:HGNC:4809
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GO; GOX; GOX1; HAOX1
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]
Expression: Restricted expression toward liver (RPKM 144.8) See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (7882985..7940458, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (7924797..7982271, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (7863632..7921105, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development.
Title: Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development.
Mechanistic insights into the ROS-mediated inactivation of human aldehyde oxidase.
Title: Mechanistic insights into the ROS-mediated inactivation of human aldehyde oxidase.
The study presents the first spectroscopic evidence of the formation of an intermediate with absorbance features resembling those of a flavosemiquinone in the oxidative half-reaction of glycolate oxidase.
Title: Stabilization of an intermediate in the oxidative half-reaction of human liver glycolate oxidase.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.
The inhibitor heteroatoms interact with five active-site residues that have been implicated in catalysis in homologous flavodehydrogenases of L-2-hydroxy acids. In addition, the chlorophenyl substituent is surrounded by nonconserved hydrophobic residues.
Title: Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole.
Active site and loop 4 movements within human glycolate oxidase.
Title: Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design.
These inhibitions suggest that glycolate binds to the active site of the reduced enzyme, and that DCIP also has affinity for the oxidized enzyme.
Title: Purification and characterization of recombinant human liver glycolate oxidase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33251 (e-PCR)
- UniSTS:62307

WI-16702 (e-PCR)
- UniSTS:72879

RH36339 (e-PCR)
- UniSTS:8632

NoName (e-PCR)
- UniSTS:483306

NoName (e-PCR)
- UniSTS:481526

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (S)-2-hydroxy-acid oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables (S)-2-hydroxy-acid oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables FMN binding	IDA Inferred from Direct Assay more info	PubMed
enables glyoxylate oxidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid alpha-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid alpha-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in glycine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glycolate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in peroxisomal matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal matrix	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal matrix	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 2-Hydroxyacid oxidase 1

Names: (S)-2-hydroxy-acid oxidase; glycolate oxidase 1; glyoxylate oxidase; hydroxyacid oxidase (glycolate oxidase) 1

NP_060015.1

EC 1.1.3.15

EC 1.2.3.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.