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HAO1
HPA
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  • HAO1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

HAO1
Synonyms GOX, GOX1
Gene descriptioni

Full gene name according to HGNC.

Hydroxyacid oxidase 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Enzymes
FDA approved drug targets
Metabolic proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 20
Cytoband p12.3
Chromosome location (bp) 7882985 - 7940458
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

1
Ensembl ENSG00000101323 (version 109)
Entrez gene 54363
HGNC HGNC:4809
UniProt Q9UJM8 (UniProt - Evidence at protein level)
neXtProt NX_Q9UJM8
GeneCards HAO1
Antibodypedia HAO1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Broad substrate specificity (S)-2-hydroxy-acid oxidase that preferentially oxidizes glycolate 1, 2, 3, 4. The glyoxylate produced by the oxidation of glycolate can then be utilized by alanine-glyoxylate aminotransferase for the peroxisomal synthesis of glycine; this pathway appears to be an important step for the detoxification of glyoxylate which, if allowed to accumulate, may be metabolized to oxalate with formation of kidney stones 5, 6. Can also catalyze the oxidation of glyoxylate, and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, albeit with much lower catalytic efficiency 7, 8, 9. Active in vitro with the artificial electron acceptor 2,6-dichlorophenolindophenol (DCIP), but O2 is believed to be the physiological electron acceptor, leading to the production of H2O2 10, 11, 12, 13. Is not active on L-lactate and 2-hydroxybutanoate 14.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Oxidoreductase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Amino-acid biosynthesis
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Flavoprotein, FMN
Gene summary (Entrez)i

Useful information about the gene from 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, 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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
HAO1-201
ENSP00000368066
ENST00000378789
Q9UJM8
[Direct mapping] 2-Hydroxyacid oxidase 1
Show all
A8K058
[Target identity:100%; Query identity:100%] Hydroxyacid oxidase (Glycolate oxidase) 1, isoform CRA_a; cDNA FLJ78493, highly similar to Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA; cDNA, FLJ94465, Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1),mRNA
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
FDA approved drug targets
   Biotech drugs
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001561 [fatty acid alpha-oxidation]
GO:0003973 [(S)-2-hydroxy-acid oxidase activity]
GO:0005777 [peroxisome]
GO:0005782 [peroxisomal matrix]
GO:0005829 [cytosol]
GO:0006545 [glycine biosynthetic process]
GO:0006979 [response to oxidative stress]
GO:0008652 [cellular amino acid biosynthetic process]
GO:0010181 [FMN binding]
GO:0016491 [oxidoreductase activity]
GO:0046296 [glycolate catabolic process]
GO:0047969 [glyoxylate oxidase activity]
Show all
370 aa
40.9 kDa
No 0

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