HAO1 (hydroxyacid oxidase 1)

2014-11-01  

Identity

HGNC
LOCATION
20p12.3
LOCUSID
ALIAS
GOX,GOX1,HAOX1

Other Information

Locus ID:

NCBI: 54363
MIM: 605023
HGNC: 4809
Ensembl: ENSG00000101323

Variants:

dbSNP: 54363
ClinVar: 54363
TCGA: ENSG00000101323
COSMIC: HAO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101323ENST00000378789Q9UJM8
ENSG00000101323ENST00000378789A8K058

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Glyoxylate and dicarboxylate metabolismKEGGko00630
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201892452010Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.16
182150672008Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design.11
176693542007Purification and characterization of recombinant human liver glycolate oxidase.8
211418732011Stabilization of an intermediate in the oxidative half-reaction of human liver glycolate oxidase.7
200541202009Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole.3

Citation

Dessen P

HAO1 (hydroxyacid oxidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64167/hao1