Seroatlas · Human Serome Atlas

HAO1

2-Hydroxyacid oxidase 1

Also known as: GOX, GOX1, HAOX1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UJM8
Gene
HAO1
Ensembl
ENSG00000101323
Chromosome
20
Canonical length
370 aa
Protein class
Enzymes, FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Vesicles
Quaternary structure
Homotetramer

OverviewNCBI 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, 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]

Canonical amino-acid sequenceUniProt

370 residues, UniProt reviewed canonical sequence.

>Q9UJM8|HAO1
     1  MLPRLICIND YEQHAKSVLP KSIYDYYRSG ANDEETLADN IAAFSRWKLY PRMLRNVAET
    61  DLSTSVLGQR VSMPICVGAT AMQRMAHVDG ELATVRACQS LGTGMMLSSW ATSSIEEVAE
   121  AGPEALRWLQ LYIYKDREVT KKLVRQAEKM GYKAIFVTVD TPYLGNRLDD VRNRFKLPPQ
   181  LRMKNFETST LSFSPEENFG DDSGLAAYVA KAIDPSISWE DIKWLRRLTS LPIVAKGILR
   241  GDDAREAVKH GLNGILVSNH GARQLDGVPA TIDVLPEIVE AVEGKVEVFL DGGVRKGTDV
   301  LKALALGAKA VFVGRPIVWG LAFQGEKGVQ DVLEILKEEF RLAMALSGCQ NVKVIDKTLV
   361  RKNPLAVSKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HAO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.21
Highest tissue expression
568 nTPM

Expression across tissuesHPA

Tissue

  • liver: 568 nTPM
  • kidney: 0.9 nTPM
  • gallbladder: 0.1 nTPM
  • pancreas: 0.1 nTPM
  • spleen: 0.1 nTPM
  • testis: 0.1 nTPM

Single-cell type

  • hepatocytes: 439 nCPM
  • hepatic stellate cells: 13 nCPM
  • cholangiocytes: 5.3 nCPM
  • pancreatic islet cells: 4.9 nCPM
  • epicardial cells: 2.3 nCPM
  • proximal tubule cells: 1.6 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 0.1 nTPM
  • midbrain: 0.1 nTPM
  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HAO1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 74 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • glycolate oxidase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.15
gnomAD pLI
0
gnomAD missense Z
-0.5
DepMap mean gene effect
0.16
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HAO1 as an antibody target. Whether an autoantibody or antibody against HAO1 could matter depends on whether native HAO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HAO1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HAO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HAO1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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