• Gene id: 54363

Gene Summary

• Gene Symbol: HAO1   Gene   UCSC   Ensembl
• Aliases: GOX, GOX1, HAOX1
• Gene name: hydroxyacid oxidase 1
• Alternate names: hydroxyacid oxidase 1, (S)-2-hydroxy-acid oxidase, glycolate oxidase 1, hydroxyacid oxidase (glycolate oxidase) 1,
• Gene location: 20p12.3 (7940457: 7882984)     Exons: 8     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 605954

Protein Summary

• Protein general information: Q9UJM8  
  • Name: Hydroxyacid oxidase 1 (HAOX1) (EC 1.1.3.15) (Glycolate oxidase) (GOX)
  • Length: 370  
  • Mass: 40924
  • Tissue specificity: Liver.
• Sequence:

  MLPRLICINDYEQHAKSVLPKSIYDYYRSGANDEETLADNIAAFSRWKLYPRMLRNVAETDLSTSVLGQRVSMPI
  CVGATAMQRMAHVDGELATVRACQSLGTGMMLSSWATSSIEEVAEAGPEALRWLQLYIYKDREVTKKLVRQAEKM
  GYKAIFVTVDTPYLGNRLDDVRNRFKLPPQLRMKNFETSTLSFSPEENFGDDSGLAAYVAKAIDPSISWEDIKWL
  RRLTSLPIVAKGILRGDDAREAVKHGLNGILVSNHGARQLDGVPATIDVLPEIVEAVEGKVEVFLDGGVRKGTDV
  LKALALGAKAVFVGRPIVWGLAFQGEKGVQDVLEILKEEFRLAMALSGCQNVKVIDKTLVRKNPLAVSKI

• Structural information:
  • Protein Domains: (1..36-)
    acid (/note="FMN-hydroxy)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00683"-)
  • Interpro: IPR013785  IPR012133  IPR000262  IPR037396  IPR008259  
  • Prosite: PS00557 PS51349
  • CDD: cd02809
  • PDB: 2NZL 2RDT 2RDU 2RDW 2W0U 5QIB 5QIC 5QID 5QIE 5QIF 5QIG 5QIH 6GMB 6GMC
  • PDBsum: 2NZL 2RDT 2RDU 2RDW 2W0U 5QIB 5QIC 5QID 5QIE 5QIF 5QIG 5QIH 6GMB 6GMC
  • STRING: ENSP00000368066
• Other Databases: GeneCards:  HAO1  Malacards:  HAO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004459	L-lactate dehydrogenase activity	IBA	molecular function
GO:0001561	fatty acid alpha-oxidation	IBA	biological process
GO:0005777	peroxisome	IBA	cellular component
GO:0008891	glycolate oxidase activity	IBA	molecular function
GO:0019516	lactate oxidation	IBA	biological process
GO:0010181	FMN binding	IDA	molecular function
GO:0046296	glycolate catabolic process	IDA	biological process
GO:0008891	glycolate oxidase activity	IDA	molecular function
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IDA	molecular function
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0010181	FMN binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0052852	very-long-chain-(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0052853	long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity	IEA	molecular function
GO:0052854	medium-chain-(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0034641	cellular nitrogen compound metabolic process	TAS	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0006979	response to oxidative stress	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0046296	glycolate catabolic process	IEA	biological process
GO:0008891	glycolate oxidase activity	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04146	Peroxisome
hsa00630	Glyoxylate and dicarboxylate metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R