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HAO1 hydroxyacid oxidase 1 [ Homo sapiens (human) ]

Gene ID: 54363, updated on 21-Dec-2019

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
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
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

Genomic context

See HAO1 in Genome Data Viewer
Location:
20p12.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (7882985..7940458, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (7863631..7921093, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372518 Neighboring gene serine and arginine rich splicing factor 10 pseudogene 2 Neighboring gene uncharacterized LOC105372520 Neighboring gene thioredoxin related transmembrane protein 4 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC142225, MGC142227

Gene Ontology Provided by GOA

Function Evidence Code Pubs
(S)-2-hydroxy-acid oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
FMN binding IDA
Inferred from Direct Assay
more info
PubMed 
L-lactate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycolate oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycolate oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity IEA
Inferred from Electronic Annotation
more info
 
medium-chain-(S)-2-hydroxy-acid oxidase activity IEA
Inferred from Electronic Annotation
more info
 
very-long-chain-(S)-2-hydroxy-acid oxidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
fatty acid alpha-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid alpha-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
glycolate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycolate catabolic process IEA
Inferred from Electronic Annotation
more info
 
lactate oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hydroxyacid oxidase 1
Names
(S)-2-hydroxy-acid oxidase
glycolate oxidase 1
hydroxyacid oxidase (glycolate oxidase) 1
NP_060015.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_046733.1 RefSeqGene

    Range
    4989..62462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017545.3NP_060015.1  hydroxyacid oxidase 1

    See identical proteins and their annotated locations for NP_060015.1

    Status: REVIEWED

    Source sequence(s)
    AL021879
    Consensus CDS
    CCDS13100.1
    UniProtKB/Swiss-Prot
    Q9UJM8
    UniProtKB/TrEMBL
    A8K058
    Related
    ENSP00000368066.3, ENST00000378789.4
    Conserved Domains (1) summary
    pfam01070
    Location:16362
    FMN_dh; FMN-dependent dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    7882985..7940458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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