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Aliases for HAO1 Gene

Aliases for HAO1 Gene

  • Hydroxyacid Oxidase 1 2 3 5
  • Hydroxyacid Oxidase (Glycolate Oxidase) 1 2 3
  • Glycolate Oxidase 1 2 3
  • HAOX1 3 4
  • GOX1 3 4
  • GOX 3 4
  • (S)-2-Hydroxy-Acid Oxidase 3
  • Glycolate Oxidase 4
  • EC 1.1.3.15 4

External Ids for HAO1 Gene

Previous HGNC Symbols for HAO1 Gene

  • GOX1

Previous GeneCards Identifiers for HAO1 Gene

  • GC20M007851
  • GC20M007858
  • GC20M007811

Summaries for HAO1 Gene

Entrez Gene Summary for HAO1 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]

GeneCards Summary for HAO1 Gene

HAO1 (Hydroxyacid Oxidase 1) is a Protein Coding gene. Diseases associated with HAO1 include Primary Hyperoxaluria and Lactocele. Among its related pathways are Glyoxylate metabolism and glycine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include receptor binding and FMN binding. An important paralog of this gene is HAO2.

UniProtKB/Swiss-Prot for HAO1 Gene

  • Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate.

Additional gene information for HAO1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAO1 Gene

Genomics for HAO1 Gene

GeneHancer (GH) Regulatory Elements for HAO1 Gene

Promoters and enhancers for HAO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I007940 Promoter 0.9 EPDnew 550.8 0.0 -4 0.1 RXRA TAF1 MAX REST RAD21 YY1 JUND ATF3 HNF4G ZBTB33 HAO1 GC20P007955
GH20I007924 Enhancer 0.9 FANTOM5 ENCODE 1.5 +15.4 15435 1.4 FOXA2 JUN HLF JUNB BATF ATF2 JUND CREB1 ATF7 FOS TMX4 HAO1 ENSG00000277315
GH20I007936 Enhancer 0.9 Ensembl ENCODE 0.8 +4.0 3950 0.6 CTCF FOXA2 TAF1 ZSCAN4 MAX RAD21 YY1 ZNF335 E2F1 ZNF366 HAO1 ENSG00000277315
GH20I007935 Enhancer 0.6 Ensembl 0.4 +5.2 5173 0.2 SMARCA5 TRIM22 BMI1 DPF2 ZNF217 IKZF1 MLLT1 IKZF2 SPI1 HAO1 ENSG00000277315
GH20I007911 Enhancer 0.2 ENCODE 0.3 +28.1 28139 1.6 HAO1 ENSG00000277315
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAO1 gene promoter:

Genomic Locations for HAO1 Gene

Genomic Locations for HAO1 Gene
chr20:7,882,981-7,940,474
(GRCh38/hg38)
Size:
57,494 bases
Orientation:
Minus strand
chr20:7,863,628-7,921,121
(GRCh37/hg19)

Genomic View for HAO1 Gene

Genes around HAO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAO1 Gene

Proteins for HAO1 Gene

  • Protein details for HAO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJM8-HAOX1_HUMAN
    Recommended name:
    Hydroxyacid oxidase 1
    Protein Accession:
    Q9UJM8
    Secondary Accessions:
    • Q14CQ0
    • Q9UPZ0
    • Q9Y3I7

    Protein attributes for HAO1 Gene

    Size:
    370 amino acids
    Molecular mass:
    40924 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HAO1 Gene

neXtProt entry for HAO1 Gene

Post-translational modifications for HAO1 Gene

No Post-translational modifications

Other Protein References for HAO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAO1 Gene

Domains & Families for HAO1 Gene

Gene Families for HAO1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HAO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJM8

UniProtKB/Swiss-Prot:

HAOX1_HUMAN :
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
Family:
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
genes like me logo Genes that share domains with HAO1: view

Function for HAO1 Gene

Molecular function for HAO1 Gene

GENATLAS Biochemistry:
hydroxyacid oxidase 1,glycolate oxidase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=141 uM for glycolate {ECO:0000269 PubMed:18215067}; KM=40 uM for 2-hydroxy octanoate {ECO:0000269 PubMed:18215067}; KM=2200 uM for glyoxylate {ECO:0000269 PubMed:18215067};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-hydroxy acid + O(2) = 2-oxo acid + H(2)O(2).
UniProtKB/Swiss-Prot Function:
Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate.

Enzyme Numbers (IUBMB) for HAO1 Gene

Phenotypes From GWAS Catalog for HAO1 Gene

Gene Ontology (GO) - Molecular Function for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003973 (S)-2-hydroxy-acid oxidase activity IDA,IEA 10777549
GO:0005102 receptor binding IPI 20178365
GO:0008891 glycolate oxidase activity EXP,IDA 10777549
GO:0010181 FMN binding IDA 18215067
genes like me logo Genes that share ontologies with HAO1: view

Phenotypes for HAO1 Gene

genes like me logo Genes that share phenotypes with HAO1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HAO1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAO1 Gene

Localization for HAO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAO1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAO1 gene
Compartment Confidence
peroxisome 5
cytosol 3
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA,IEA 10777549
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with HAO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAO1 Gene

Pathways & Interactions for HAO1 Gene

genes like me logo Genes that share pathways with HAO1: view

UniProtKB/Swiss-Prot Q9UJM8-HAOX1_HUMAN

  • Pathway: Organic acid metabolism; glycolate degradation; 3-phospho-D-glycerate from glycolate: step 1/4.

Gene Ontology (GO) - Biological Process for HAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation IDA 18215067
GO:0006979 response to oxidative stress IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0046296 glycolate catabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HAO1: view

No data available for SIGNOR curated interactions for HAO1 Gene

Drugs & Compounds for HAO1 Gene

(28) Drugs for HAO1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Glycolic acid Approved, Investigational Pharma 19
Hydrogen peroxide Approved, Vet_approved Pharma 73
(2S)-2-HYDROXYOCTANOIC ACID Experimental Pharma Target 0
3-(INDOL-3-YL) LACTATE Experimental Pharma Target 0

(36) Additional Compounds for HAO1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HAO1: view

Transcripts for HAO1 Gene

mRNA/cDNA for HAO1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HAO1 Gene

Hydroxyacid oxidase (glycolate oxidase) 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HAO1

Alternative Splicing Database (ASD) splice patterns (SP) for HAO1 Gene

No ASD Table

Relevant External Links for HAO1 Gene

GeneLoc Exon Structure for
HAO1
ECgene alternative splicing isoforms for
HAO1

Expression for HAO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HAO1 Gene

mRNA differential expression in normal tissues according to GTEx for HAO1 Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for HAO1 Gene

This gene is overexpressed in Liver (30.9), Gallbladder (23.2), and Liver, secretome (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HAO1 Gene



Protein tissue co-expression partners for HAO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HAO1 Gene:

HAO1

SOURCE GeneReport for Unigene cluster for HAO1 Gene:

Hs.193640

mRNA Expression by UniProt/SwissProt for HAO1 Gene:

Q9UJM8-HAOX1_HUMAN
Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for HAO1 Gene

  • Liver(4.6)
genes like me logo Genes that share expression patterns with HAO1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAO1 Gene

Orthologs for HAO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HAO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAO1 33 34
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia HAO1 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAO1 33 34
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Hao1 33 16 34
  • 87.12 (n)
rat
(Rattus norvegicus)
Mammalia Hao1 33
  • 85.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HAO1 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAO1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAO1 33 34
  • 71.64 (n)
lizard
(Anolis carolinensis)
Reptilia HAO1 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1958 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3534 33
zebrafish
(Danio rerio)
Actinopterygii hao1 33 34
  • 65.48 (n)
Dr.2132 33
fruit fly
(Drosophila melanogaster)
Insecta CG18003 35 33 34
  • 54.08 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010885 33
  • 53.41 (n)
worm
(Caenorhabditis elegans)
Secernentea F41E6.5 35 33 34
  • 51.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB2 34 36
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G18360 33
  • 55.97 (n)
rice
(Oryza sativa)
Liliopsida Os03g0786100 33
  • 54.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToOne
Species where no ortholog for HAO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HAO1 Gene

ENSEMBL:
Gene Tree for HAO1 (if available)
TreeFam:
Gene Tree for HAO1 (if available)

Paralogs for HAO1 Gene

Paralogs for HAO1 Gene

(1) SIMAP similar genes for HAO1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HAO1: view

Variants for HAO1 Gene

Sequence variations from dbSNP and Humsavar for HAO1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs2142697 association, Calcium oxalate urolithiasis 7,926,296(-) G/A/C intron_variant
rs2205818 association, Calcium oxalate urolithiasis 7,919,281(-) T/C intron_variant
rs2235245 association, Calcium oxalate urolithiasis 7,932,295(-) C/G intron_variant
rs2235250 association, Calcium oxalate urolithiasis 7,890,075(-) C/T intron_variant
rs2255183 association, Calcium oxalate urolithiasis 7,939,957(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HAO1 Gene

Variant ID Type Subtype PubMed ID
esv3893279 CNV gain 25118596
nsv1059059 CNV gain 25217958
nsv585384 CNV gain 21841781
nsv833915 CNV gain 17160897

Variation tolerance for HAO1 Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAO1 Gene

Human Gene Mutation Database (HGMD)
HAO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAO1 Gene

Disorders for HAO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAO1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary hyperoxaluria
  • glycolic aciduria
lactocele
  • galactocele
- elite association - COSMIC cancer census association via MalaCards
Search HAO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HAO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAO1 Gene

Publications for HAO1 Gene

  1. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. (PMID: 10777549) Jones JM … Gould SJ (The Journal of biological chemistry 2000) 3 4 22 58
  2. Genome-wide association study of childhood acute lymphoblastic leukemia in Korea. (PMID: 20189245) Han S … Kang D (Leukemia research 2010) 3 44 58
  3. Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole. (PMID: 20054120) Bourhis JM … Lindqvist Y (Acta crystallographica. Section F, Structural biology and crystallization communications 2009) 3 4 58
  4. Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design. (PMID: 18215067) Murray MS … Lowther WT (Biochemistry 2008) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for HAO1 Gene

Sources for HAO1 Gene

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