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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 56
  • 3-HAO 3 4
  • HAD 3 4
  • VCRL1 3
  • 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. Diseases associated with HAAO include Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1. Among its related pathways are superpathway of tryptophan utilization and Viral mRNA Translation. Gene Ontology (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.

Additional gene information for HAAO Gene

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

Genomics for HAAO Gene

GeneHancer (GH) Regulatory Elements for HAAO Gene

Promoters and enhancers for HAAO 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
GH02I042791 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.7 -1.1 -1080 5.5 MLX ZFP64 ARID4B DMAP1 IRF4 YY1 SLC30A9 ZNF143 PAF1 SP5 HAAO GC02P042792 EML4 FTOP1 GC02P042660 MTA3
GH02I042751 Enhancer 1 Ensembl ENCODE 23.4 +39.0 39038 4.6 HDGF BMI1 BATF IRF4 ATF7 BCLAF1 IKZF2 RUNX3 CBFB JUNB HAAO MTA3 KCNG3 OXER1 RNU6-137P GC02P042660
GH02I042492 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 8 +298.7 298705 3.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF48 ZNF213 ZNF143 RUNX3 KCNG3 MTA3 HAAO COX7A2L
GH02I042566 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 6.9 +224.6 224634 4.3 PKNOX1 RB1 SIN3A DMAP1 ZNF48 RFX5 ZNF335 ZNF366 ZNF143 ATF7 MTA3 KCNG3 HAAO GC02P042587 GC02M042525
GH02I042721 Enhancer 1 Ensembl ENCODE 12.9 +70.5 70473 1.8 HDGF BMI1 BATF IRF4 ATF7 ETV6 FOS IKZF2 RUNX3 SMARCA5 HAAO OXER1 RNU6-137P GC02P042660 MTA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAAO on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HAAO Gene

Genomic Locations for HAAO Gene
chr2:42,767,089-42,793,138
(GRCh38/hg38)
Size:
26,050 bases
Orientation:
Minus strand
chr2:42,994,229-43,019,751
(GRCh37/hg19)

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

Selected DME Specific Peptides for HAAO Gene

P46952:
  • PPVCNKL
  • VPHSPQR
  • RKDYHIEEGEE

Post-translational modifications for HAAO Gene

No Post-translational modifications

Other Protein References for HAAO Gene

Domains & Families for HAAO Gene

Gene Families for HAAO Gene

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

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

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

Phenotypes From GWAS Catalog for HAAO Gene

Gene Ontology (GO) - Molecular Function for HAAO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000334 3-hydroxyanthranilate 3,4-dioxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0008198 ferrous iron binding IDA 12007609
GO:0009055 electron transfer activity NAS 7514594
genes like me logo Genes that share ontologies with HAAO: view
genes like me logo Genes that share phenotypes with HAAO: view

Animal Models for HAAO Gene

MGI Knock Outs for HAAO:
  • Haao tm1a(KOMP)Wtsi

Clone Products

No data available for Human Phenotype Ontology , 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
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 HAAO gene
Compartment Confidence
extracellular 5
cytosol 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 --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with HAAO: view

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

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:0009435 NAD biosynthetic process IEA --
GO:0010043 response to zinc ion IDA 12007609
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0019805 quinolinate biosynthetic process NAS 7514594
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

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

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

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

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
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for HAAO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HAAO Gene:

HAAO

SOURCE GeneReport for Unigene cluster for HAAO Gene:

Hs.368805

Evidence on tissue expression from TISSUES for HAAO Gene

  • Liver(4.5)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with HAAO: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 89.98 (n)
dog
(Canis familiaris)
Mammalia HAAO 33 34
  • 87.52 (n)
rat
(Rattus norvegicus)
Mammalia Haao 33
  • 86.6 (n)
mouse
(Mus musculus)
Mammalia Haao 33 16 34
  • 85.33 (n)
oppossum
(Monodelphis domestica)
Mammalia HAAO 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 50 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
chicken
(Gallus gallus)
Aves HAAO 33 34
  • 61.03 (n)
lizard
(Anolis carolinensis)
Reptilia HAAO 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia haao 33
  • 61.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68644 33
zebrafish
(Danio rerio)
Actinopterygii haao 33 34
  • 57.11 (n)
worm
(Caenorhabditis elegans)
Secernentea haao-1 33 34
  • 48.05 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL127W 33
  • 52.16 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA1 33 34 36
  • 46.93 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03282 33
  • 56.15 (n)
Species where no ortholog for HAAO was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs527656756 pathogenic, Congenital NAD deficiency disorder, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 42,770,144(-) A/AA coding_sequence_variant, frameshift, stop_gained
rs1000006332 -- 42,772,903(-) G/GG intron_variant
rs1000012233 -- 42,791,460(-) T/C intron_variant
rs1000035950 -- 42,771,318(-) C/T intron_variant
rs1000158418 -- 42,784,971(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv817795 CNV gain 17921354
nsv581644 CNV loss 21841781
nsv519877 CNV loss 19592680
nsv457152 CNV loss 19166990
nsv1123321 CNV deletion 24896259

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)

Additional Variant Information for HAAO Gene

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

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

Disorders for HAAO Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAAO Gene - From: OMIM and ClinVar

- elite association - COSMIC cancer census association via MalaCards
Search HAAO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAAO

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 HAAO: view

No data available for 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 AM (The Journal of biological chemistry 1994) 2 3 4 22 58
  2. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  4. Identification of candidate epigenetic biomarkers for ovarian cancer detection. (PMID: 19724865) Huang YW … Lin HJ (Oncology reports 2009) 3 22 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for HAAO Gene

Sources for HAAO Gene

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