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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 a... See more...
Aliases for HAAO Gene
Aliases for HAAO Gene
External Ids for HAAO Gene
- HGNC: 4796
- NCBI Entrez Gene: 23498
- Ensembl: ENSG00000162882
- OMIM®: 604521
- UniProtKB/Swiss-Prot: P46952
Previous GeneCards Identifiers for HAAO Gene
- GC02M042982
- GC02M043162
- GC02M042968
- GC02M042905
- GC02M042847
- GC02M042994
- GC02M042728
Summaries 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 and Congenital Vertebral-Cardiac-Renal Anomalies Syndrome. Among its related pathways are superpathway of tryptophan utilization and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding.
UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for HAAO Gene
Genomics for HAAO Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HAAO Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HAAO on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAAO
- Top Transcription factor binding sites by QIAGEN in the HAAO gene promoter:
-
- ATF6
- E4BP4
- FOXD3
- HTF
- Pax-4a
- PPAR-gamma1
- PPAR-gamma2
- SEF-1 (1)
Genomic Locations for HAAO Gene
Latest Assembly
- chr2:42,767,087-42,801,002
- (GRCh38/hg38)
- Size:
- 33,916 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:42,994,229-43,019,723
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,495 bases
- Orientation:
- Minus strand
Genomic View for HAAO Gene
Genes around HAAO on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p21 by HGNC
- 2p21 by Entrez Gene
- 2p21 by Ensembl
HAAO Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for HAAO Gene
Selected DME Specific Peptides for HAAO Gene
- P46952:
-
- PPVCNKL
- VPHSPQR
- RKDYHIEEGEE
Post-translational modifications for HAAO Gene
Other Protein References for HAAO Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences HAAO Antibody
- G Biosciences Immunotag™ HAAO Antibody
-
Custom Antibody ServicesOriGene Antibodies for HAAO
- Novus Biologicals Antibodies for HAAO
-
Abcam antibodies for HAAO
- Invitrogen Antibodies for HAAO (AFLGC-HAAO)
-
Biorbyt antibodies for HAAO
-
Boster Bio Antibodies for HAAO
- Sino Biological Antibodies for HAAO
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for HAAO
- Origene Custom Protein Services for HAAO
- Sino Biological Recombinant Proteins for HAAO
- Sino Biological Cell Lysates for HAAO
- ProSpec Recombinant Proteins for HAAO
-
Abcam proteins for HAAO
Assay products for research
- antibodies-online: Show 13 available HAAO Elisa Kits ranked by validation data
- Compare Top HAAO Elisa Kits
-
Quality Products:
Domains & Families for HAAO Gene
Gene Families for HAAO Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for HAAO Gene
Suggested Antigen Peptide Sequences for HAAO Gene
- GenScript: Design optimal peptide antigens:
-
- 3-hydroxyanthranilic acid dioxygenase (3HAO_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P46952- Family:
-
- Belongs to the 3-HAO family.
Function for HAAO Gene
Molecular function for HAAO Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-hydroxyanthranilate + O2 = (2Z,4Z)-2-amino-3-carboxymuconate 6-semialdehyde; Xref=Rhea:RHEA:17953, ChEBI:CHEBI:15379, ChEBI:CHEBI:36559, ChEBI:CHEBI:77612; EC=1.13.11.6; Evidence={ECO:0000255|HAMAP-Rule:MF_03019, ECO:0000269|PubMed:28792876, ECO:0000269|PubMed:7514594};.
Enzyme Numbers (IUBMB) for HAAO Gene
Phenotypes From GWAS Catalog for HAAO Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000334 | 3-hydroxyanthranilate 3,4-dioxygenase activity | IEA,IDA | 7514594 |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0008198 | ferrous iron binding | IEA,IDA | 12007609 |
| GO:0009055 | electron transfer activity | NAS | 7514594 |
Phenotypes for HAAO Gene
- MGI mutant phenotypes for HAAO:
-
inferred from 3 alleles
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for HAAO:
Animal Models for HAAO Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HAAO - Starting at $85 >
- * HAAO CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HAAO
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HAAO
-
Santa Cruz Biotechnology (SCBT) CRISPR for HAAO
miRNA for HAAO Gene
- miRTarBase miRNAs that target HAAO
-
- hsa-miR-4644 (MIRT460074)
- hsa-miR-5192 (MIRT460075)
- hsa-miR-4306 (MIRT460076)
- hsa-miR-185-5p (MIRT460077)
- hsa-miR-6088 (MIRT460078)
- hsa-miR-4770 (MIRT460079)
- hsa-miR-143-3p (MIRT460080)
- hsa-miR-6770-5p (MIRT460081)
- hsa-miR-7153-5p (MIRT460082)
- hsa-miR-146b-5p (MIRT460083)
- hsa-miR-146a-5p (MIRT460084)
- hsa-miR-589-5p (MIRT460085)
- hsa-miR-4795-5p (MIRT460086)
- hsa-miR-1252-5p (MIRT460087)
- hsa-miR-3919 (MIRT460088)
- hsa-miR-4773 (MIRT460089)
- hsa-miR-379-5p (MIRT490255)
- hsa-miR-3529-5p (MIRT490256)
- hsa-miR-3132 (MIRT490257)
- hsa-miR-197-5p (MIRT490258)
- hsa-miR-6835-5p (MIRT490259)
- hsa-miR-128-2-5p (MIRT490260)
- hsa-miR-128-1-5p (MIRT490261)
- hsa-miR-6781-5p (MIRT490262)
- hsa-miR-6721-5p (MIRT490263)
- hsa-miR-744-5p (MIRT490264)
- hsa-miR-4722-5p (MIRT490265)
- hsa-miR-4787-5p (MIRT490266)
- hsa-miR-4781-5p (MIRT490267)
- hsa-miR-6502-3p (MIRT490268)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HAAO
- Browse OriGene Inhibitory RNA Products For HAAO
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAAO
Clone products for research
- Applied Biological Materials (abm): Clones for HAAO - Starting at $45 >
- * HAAO as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HAAO
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HAAO
Cell Lines for research
-
Horizon Cell Lines for HAAO
No data available for Transcription Factor Targets and HOMER Transcription for HAAO Gene
Localization for HAAO Gene
Subcellular locations from UniProtKB/Swiss-Prot for HAAO Gene
- Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAAO Gene
Pathways & Interactions for HAAO Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
| 2 | superpathway of tryptophan utilization | ||
| 3 | Metabolism |
.40
|
|
| 4 | Tryptophan metabolism | ||
| 5 | Biosynthesis of cofactors | ||
Pathways by source for HAAO Gene
7 BioSystems pathways for HAAO Gene
3 KEGG pathways for HAAO Gene
1 GeneGo (Thomson Reuters) pathway for HAAO Gene
- NAD metabolism
UniProtKB/Swiss-Prot P46952-3HAO_HUMAN
- Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3.
Interacting Proteins for HAAO Gene
Selected Interacting proteins:
P46952-3HAO_HUMAN
ENSP00000294973
for HAAO Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for HAAO
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006569 | tryptophan catabolic process | TAS | -- |
| GO:0009435 | NAD biosynthetic process | IMP | 28792876 |
| GO:0010043 | response to zinc ion | IDA | 12007609 |
| GO:0019363 | pyridine nucleotide biosynthetic process | IEA | -- |
| GO:0019805 | quinolinate biosynthetic process | NAS | 7514594 |
No data available for SIGNOR curated interactions for HAAO Gene
Drugs & Compounds for HAAO Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-Amino-3-carboxymuconic acid semialdehyde |
|
16597-19-6 |
|
Transcripts for HAAO Gene
mRNA/cDNA for HAAO Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000294973 1256 nts (view in UCSC)
- ENST00000402268 908 nts (view in UCSC)
- ENST00000402698 1522 nts (view in UCSC)
- ENST00000404451 651 nts (view in UCSC)
- ENST00000406007 760 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HAAO - Starting at $85 >
- * HAAO CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HAAO
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HAAO
-
Santa Cruz Biotechnology (SCBT) CRISPR for HAAO
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HAAO
- Browse OriGene Inhibitory RNA Products For HAAO
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAAO
Clone products for research
- Applied Biological Materials (abm): Clones for HAAO - Starting at $45 >
- * HAAO as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HAAO
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HAAO
| 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
Expression for HAAO Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for HAAO Gene
This gene is overexpressed in Liver (x18.2).
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 and MOPED for HAAO Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAAO
SOURCE GeneReport for Unigene cluster for HAAO Gene:
Hs.368805Evidence on tissue expression from TISSUES for HAAO Gene
- Liver(4.6)
- Nervous system(4.4)
- Kidney(2.2)
Primer products for research
-
OriGene qPCR primer pairs for HAAO
-
OriGene qPCR primer pairs and template standards for HAAO
Gene Expression Assays for research
No data available for 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | HAAO 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HAAO 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Haao 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Haao 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HAAO 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | HAAO 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HAAO 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | haao 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68644 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | haao 29 30 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | haao-1 29 30 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL127W 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BNA1 29 30 32 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03282 29 |
|
- 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for HAAO: view image
- Alliance of Genome Resources:
- Additional Orthologs for HAAO
Paralogs for HAAO Gene
No data available for Paralogs for HAAO Gene
Variants for HAAO Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAAO Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1135401743 | Pathogenic: Vertebral, cardiac, renal, and limb defects syndrome 1; Congenital NAD deficiency disorder | 42,769,785(-) |
C/T NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) |
NONSENSE | |
| rs1232096291 | Likely Pathogenic: Vertebral, cardiac, renal, and limb defects syndrome 1 | 42,783,783(-) |
C/T NM_012205.3(HAAO):c.243+1G>A |
SPLICE_DONOR | |
| rs527656756 | Pathogenic: Vertebral, cardiac, renal, and limb defects syndrome 1; Congenital NAD deficiency disorder | 42,770,143(-) |
C/CA NM_012205.3(HAAO):c.483dup (p.Asp162Ter) |
NONSENSE | |
| rs3816182 | -- |
p.Thr42Ser |
|||
| rs3816183 | -- |
p.Ile37Val |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAAO Gene
Disorders for HAAO Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vertebral, cardiac, renal, and limb defects syndrome 1 |
|
|
| congenital vertebral-cardiac-renal anomalies syndrome |
|
|
| huntington disease |
|
|
Search HAAO in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
3HAO_HUMAN- Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1) [MIM:617660]: An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. {ECO:0000269 PubMed:28792876}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for HAAO
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for HAAO Gene
Publications for HAAO Gene
- NAD Deficiency, Congenital Malformations, and Niacin Supplementation. (PMID: 28792876) Shi H … Dunwoodie SL (The New England journal of medicine 2017) 2 3 4 72
- 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
- Crystal structures of human 3-hydroxyanthranilate 3,4-dioxygenase with native and non-native metals bound in the active site. (PMID: 28375145) Pidugu LS … Toth EA (Acta crystallographica. Section D, Structural biology 2017) 3 4
- 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 40
- Identification of candidate epigenetic biomarkers for ovarian cancer detection. (PMID: 19724865) Huang YW … Lin HJ (Oncology reports 2009) 3 22
ExternalLinks
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- Browse Primary Antibodies
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- VectorBuilder CRISPR vectors for HAAO (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HAAO CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HAAO
- antibodies-online: Show 9 available HAAO Antibodies ranked by validation data
- Compare Top HAAO Antibodies
- antibodies-online: Show 13 available HAAO Elisa Kits ranked by validation data
- Compare Top HAAO Elisa Kits
- Quality Products:
- antibodies-online: Show 14 available HAAO Proteins ranked by validation data
- Compare Top HAAO Proteins
- Horizon Cell Lines for HAAO
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HAAO
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HAAO
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HAAO
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAAO
- Boster Bio Antibodies for HAAO
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for HAAO
Sources for HAAO Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources