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Aliases for HAAO Gene

Aliases for HAAO Gene

  • 3-Hydroxyanthranilate 3,4-Dioxygenase 2 3 5
  • 3-Hydroxyanthranilic Acid Dioxygenase 3 4
  • 3-Hydroxyanthranilate Oxygenase 3 4
  • EC 1.13.11.6 4 63
  • 3-HAO 3 4
  • HAD 3 4
  • HAO 3

External Ids for HAAO Gene

Previous GeneCards Identifiers for HAAO Gene

  • GC02M042982
  • GC02M043162
  • GC02M042968
  • GC02M042905
  • GC02M042847
  • GC02M042994

Summaries for HAAO Gene

Entrez Gene Summary for HAAO Gene

  • 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]

GeneCards Summary for HAAO Gene

HAAO (3-Hydroxyanthranilate 3,4-Dioxygenase) is a Protein Coding gene. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include iron ion binding and oxygen binding.

UniProtKB/Swiss-Prot for HAAO Gene

  • Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.

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

Genomics for HAAO Gene

Regulatory Elements for HAAO Gene

Promoters for HAAO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HAAO on UCSC Golden Path with GeneCards custom track

Genomic Location for HAAO Gene

Chromosome:
2
Start:
42,767,089 bp from pter
End:
42,793,138 bp from pter
Size:
26,050 bases
Orientation:
Minus strand

Genomic View for HAAO Gene

Genes around HAAO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HAAO Gene

Proteins for HAAO Gene

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

    Protein Symbol:
    P46952-3HAO_HUMAN
    Recommended name:
    3-hydroxyanthranilate 3,4-dioxygenase
    Protein Accession:
    P46952
    Secondary Accessions:
    • A6NE56
    • B4DIN2
    • Q53QZ7
    • Q8N6N9

    Protein attributes for HAAO Gene

    Size:
    286 amino acids
    Molecular mass:
    32556 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for HAAO Gene

    Alternative splice isoforms for HAAO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAAO Gene

Proteomics data for HAAO Gene at MOPED

Selected DME Specific Peptides for HAAO Gene

Post-translational modifications for HAAO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAAO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for HAAO Gene

Protein Domains for HAAO Gene

Suggested Antigen Peptide Sequences for HAAO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46952

UniProtKB/Swiss-Prot:

3HAO_HUMAN :
  • Belongs to the 3-HAO family.
Family:
  • Belongs to the 3-HAO family.
genes like me logo Genes that share domains with HAAO: view

No data available for Gene Families for HAAO Gene

Function for HAAO Gene

Molecular function for HAAO Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-hydroxyanthranilate + O(2) = 2-amino-3-carboxymuconate semialdehyde.
UniProtKB/Swiss-Prot Function:
Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.

Enzyme Numbers (IUBMB) for HAAO Gene

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAAO Gene

Localization for HAAO Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAAO Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAAO Gene COMPARTMENTS Subcellular localization image for HAAO gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HAAO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HAAO: view

Pathways & Interactions for HAAO Gene

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

UniProtKB/Swiss-Prot P46952-3HAO_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3.

Gene Ontology (GO) - Biological Process for HAAO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006569 tryptophan catabolic process TAS --
GO:0010043 response to zinc ion IDA 12007609
GO:0046686 response to cadmium ion IDA 12007609
GO:0055114 oxidation-reduction process IEA --
GO:0070050 neuron cellular homeostasis IMP 2967497
genes like me logo Genes that share ontologies with HAAO: view

No data available for SIGNOR curated interactions for HAAO Gene

Drugs & Compounds for HAAO Gene

(3) Drugs for HAAO Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3-hydroxyanthranilic acid Experimental Pharma 0

(7) Additional Compounds for HAAO Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Amino-3-carboxymuconic acid semialdehyde
  • 2-Amino-3-(3-oxoprop-1-en-1-yl)but-2-enedioate
  • 2-Amino-3-(3-oxoprop-1-en-1-yl)but-2-enedioic acid
  • 2-Amino-3-(3-oxoprop-1-enyl)-but-2-enedioate
  • 2-Amino-3-(3-oxoprop-1-enyl)-but-2-enedioic acid
  • 2-Amino-3-carboxymuconate semialdehyde
16597-58-3
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with HAAO: view

Transcripts for HAAO Gene

Unigene Clusters for HAAO Gene

3-hydroxyanthranilate 3,4-dioxygenase:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: - - -
SP2: - -
SP3: - - - - - -
SP4: -
SP5: -

Relevant External Links for HAAO Gene

GeneLoc Exon Structure for
HAAO
ECgene alternative splicing isoforms for
HAAO

Expression for HAAO Gene

mRNA expression in normal human tissues for HAAO Gene

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

This gene is overexpressed in Liver (x18.2).

Protein differential expression in normal tissues from HIPED for HAAO Gene

This gene is overexpressed in Liver, secretome (27.0) and Liver (10.8).

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



SOURCE GeneReport for Unigene cluster for HAAO Gene Hs.368805

genes like me logo Genes that share expression patterns with HAAO: view

Protein tissue co-expression partners for HAAO Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HAAO Gene

Orthologs for HAAO Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HAAO Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HAAO 35
  • 89.98 (n)
  • 86.36 (a)
HAAO 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAAO 35
  • 87.52 (n)
  • 86.1 (a)
HAAO 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Haao 35
  • 85.33 (n)
  • 85.92 (a)
Haao 16
Haao 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Haao 35
  • 86.6 (n)
  • 87.06 (a)
oppossum
(Monodelphis domestica)
Mammalia HAAO 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
chicken
(Gallus gallus)
Aves HAAO 35
  • 61.03 (n)
  • 63.03 (a)
HAAO 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAAO 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia haao 35
  • 61.96 (n)
  • 59.06 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68644 35
zebrafish
(Danio rerio)
Actinopterygii haao 35
  • 57.11 (n)
  • 55.56 (a)
haao 36
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea haao-1 35
  • 48.05 (n)
  • 40 (a)
haao-1 36
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL127W 35
  • 52.16 (n)
  • 42.86 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA1 35
  • 46.93 (n)
  • 42.76 (a)
BNA1 36
  • 37 (a)
OneToOne
BNA1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU03282 35
  • 56.15 (n)
  • 43.62 (a)
Species with no ortholog for HAAO:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HAAO Gene

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

Paralogs for HAAO Gene

No data available for Paralogs for HAAO Gene

Variants for HAAO Gene

Sequence variations from dbSNP and Humsavar for HAAO Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_021507 -
VAR_030470 -

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

Variant ID Type Subtype PubMed ID
nsv817795 CNV Gain 17921354
nsv519877 CNV Loss 19592680
nsv457152 CNV Loss 19166990

Variation tolerance for HAAO Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.56; 86.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAAO Gene

HapMap Linkage Disequilibrium report
HAAO

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

Disorders for HAAO Gene

Relevant External Links for HAAO

Genetic Association Database (GAD)
HAAO
Human Genome Epidemiology (HuGE) Navigator
HAAO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAAO

No disorders were found for HAAO Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HAAO Gene

Publications for HAAO Gene

  1. Molecular cloning and functional expression of human 3- hydroxyanthranilic-acid dioxygenase. (PMID: 7514594) Malherbe P. … Cesura A.M. (J. Biol. Chem. 1994) 2 3 4 23 67
  2. Identification of candidate epigenetic biomarkers for ovarian cancer detection. (PMID: 19724865) Huang Y.W. … Lin H.J. (Oncol. Rep. 2009) 3 23
  3. Cloning of human 3-hydroxyanthranilic acid dioxygenase in Escherichia coli: characterisation of the purified enzyme and its in vitro inhibition by Zn2+. (PMID: 12007609) Calderone V. … Zanotti G. (Biochim. Biophys. Acta 2002) 3 23
  4. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. (PMID: 25108383) Geller F. … Melbye M. (Nat. Genet. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for HAAO Gene

Sources for HAAO Gene

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