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AADAT Gene(Protein Coding)

Aminoadipate Aminotransferase

GCID:
GC04M170060
GIFtS:
48
Genes Participants
UDN Logo

Aliases for AADAT Gene

Aliases for AADAT Gene

  • Aminoadipate Aminotransferase 2 3 5
  • Kynurenine Aminotransferase II 2 3 4
  • L Kynurenine/Alpha Aminoadipate Aminotransferase 2 3
  • Kynurenine--Oxoglutarate Aminotransferase II 3 4
  • Kynurenine--Oxoglutarate Transaminase II 3 4
  • Kynurenine--Oxoglutarate Transaminase 2 3 4
  • Alpha-Aminoadipate Aminotransferase 3 4
  • 2-Aminoadipate Aminotransferase 3 4
  • 2-Aminoadipate Transaminase 3 4
  • KAT/AadAT 3 4
  • KAT2 3 4
  • Kynurenine/Alpha-Aminoadipate Aminotransferase, Mitochondrial 3
  • EC 2.6.1.39 4
  • EC 2.6.1.7 4
  • KATII 3
  • KYAT2 3
  • AadAT 4

External Ids for AADAT Gene

Previous GeneCards Identifiers for AADAT Gene

  • GC00U991148
  • GC04M171565
  • GC04M171677
  • GC04M171356
  • GC04M171218
  • GC04M170981
  • GC04M166736

Summaries for AADAT Gene

Entrez Gene Summary for AADAT Gene

  • This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GeneCards Summary for AADAT Gene

AADAT (Aminoadipate Aminotransferase) is a Protein Coding gene. Among its related pathways are superpathway of tryptophan utilization and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and kynurenine-oxoglutarate transaminase activity.

UniProtKB/Swiss-Prot for AADAT Gene

  • Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro).

Additional gene information for AADAT Gene

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

Genomics for AADAT Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for AADAT Gene

Promoters and enhancers for AADAT 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
GH04I170088 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 571.1 +1.7 1738 2.2 ZFP64 ARID4B SIN3A ETS1 GLIS2 ELK1 ZNF143 RXRA MXD4 PPARG AADAT MFAP3L
GH04I170025 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 16.4 +65.0 64961 2.3 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF143 KLF13 MFAP3L AADAT ENSG00000251200 GC04M169997
GH04I170101 Enhancer 0.8 ENCODE 22.2 -10.8 -10799 1.2 FOXA2 RAD21 YY1 ATF7 RXRA CEBPB REST NFIL3 ATF4 KLF16 AADAT APOBEC3AP1 PIR59480
GH04I170109 Enhancer 0.6 Ensembl ENCODE 25 -18.2 -18189 1.1 USF1 POLR2A AADAT APOBEC3AP1 PIR59480
GH04I170013 Enhancer 0.5 dbSUPER 27.8 +75.2 75186 5.8 ZFHX2 ZSCAN16 WT1 EGR2 MFAP3L AADAT ENSG00000251200 GC04M169997
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AADAT on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for AADAT Gene

Genomic Locations for AADAT Gene
chr4:170,060,222-170,091,699
(GRCh38/hg38)
Size:
31,478 bases
Orientation:
Minus strand
chr4:170,981,373-171,012,850
(GRCh37/hg19)

Genomic View for AADAT Gene

Genes around AADAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AADAT Gene

Proteins for AADAT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q8N5Z0-AADAT_HUMAN
    Recommended name:
    Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial
    Protein Accession:
    Q8N5Z0
    Secondary Accessions:
    • B3KP84
    • Q9UL02

    Protein attributes for AADAT Gene

    Size:
    425 amino acids
    Molecular mass:
    47352 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for AADAT Gene

    Alternative splice isoforms for AADAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AADAT Gene

Protein Expression for AADAT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AADAT Gene

No Post-translational modifications

Other Protein References for AADAT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AADAT Gene

Domains & Families for AADAT Gene

Gene Families for AADAT Gene

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

Protein Domains for AADAT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AADAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5Z0

UniProtKB/Swiss-Prot:

AADAT_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with AADAT: view

Function for AADAT Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for AADAT Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.9 mM for aminoadipate {ECO:0000269 PubMed:18620547}; KM=4.7 mM for kynurenine {ECO:0000269 PubMed:18620547}; KM=1.7 mM for methionine {ECO:0000269 PubMed:18620547}; KM=1.6 mM for glutamate {ECO:0000269 PubMed:18620547}; KM=1.8 mM for tyrosine {ECO:0000269 PubMed:18620547}; KM=1.2 mM for 2-oxoglutarate {ECO:0000269 PubMed:18620547}; KM=1.5 mM for 2-oxocaproic acid {ECO:0000269 PubMed:18620547}; KM=1.8 mM for phenylpyruvate {ECO:0000269 PubMed:18620547}; KM=1.4 mM for ino-3-pyruvate {ECO:0000269 PubMed:18620547}; pH dependence: Optimum pH is 7-9. {ECO:0000269 PubMed:18620547}; Temperature dependence: Optimum temperature is 50 degrees Celsius. {ECO:0000269 PubMed:18620547};
UniProtKB/Swiss-Prot CatalyticActivity:
L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
L-2-aminoadipate + 2-oxoglutarate = 2-oxoadipate + L-glutamate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Kynurenine transaminase activity is competitively inhibited by aminoadipate, asparagine, glutamate, histidine, cysteine, lysine, 3-hydroxy-kynurenine and phenylalanine.
UniProtKB/Swiss-Prot Function:
Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro).

Enzyme Numbers (IUBMB) for AADAT Gene

Phenotypes From GWAS Catalog for AADAT Gene

Gene Ontology (GO) - Molecular Function for AADAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008483 transaminase activity IEA --
GO:0016212 kynurenine-oxoglutarate transaminase activity TAS --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
GO:0042803 protein homodimerization activity IPI 18620547
genes like me logo Genes that share ontologies with AADAT: view
genes like me logo Genes that share phenotypes with AADAT: view

Animal Models for AADAT Gene

MGI Knock Outs for AADAT:

Animal Model Products

miRNA for AADAT Gene

miRTarBase miRNAs that target AADAT

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AADAT Gene

Localization for AADAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AADAT Gene

Mitochondrion.

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 AADAT gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AADAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with AADAT: view

Pathways & Interactions for AADAT Gene

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

UniProtKB/Swiss-Prot Q8N5Z0-AADAT_HUMAN

  • Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 4/6.

Gene Ontology (GO) - Biological Process for AADAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process IDA 18620547
GO:0006536 glutamate metabolic process IDA 18620547
GO:0006554 lysine catabolic process TAS --
GO:0006569 tryptophan catabolic process TAS --
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with AADAT: view

No data available for SIGNOR curated interactions for AADAT Gene

Drugs & Compounds for AADAT Gene

Products:

  1. Drug

(5) Drugs for AADAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
L-Kynurenine Pharma Tryptophan catabolite; endogenous aryl hydrocarbon receptor ligand 0

(9) Additional Compounds for AADAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoic acid
  • 4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoate
  • 4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoic acid
4-(2-Aminophenyl)-2,4-dioxobutanoic acid
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoate
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoic acid
  • 4-(2-Aminophenyl)-2,4-dioxobutanoate
  • 4-(2-Aminophenyl)-2,4-dioxobutanoic acid
Aminoadipic acid
  • (+/-)-2-Aminoadipate
  • (+/-)-2-Aminoadipic acid
  • 2-Aminoadipate
  • 2-Aminoadipic acid
  • a-Aminoadipate
 542-32-5
Hydroxykynurenine
  • 3-(3-Hydroxyanthraniloyl)-Alanine
  • 3-Hydroxy-DL-kynurenine
  • 3-Hydroxy-Kynurenine
  • 3-Hydroxykynurenine
  • DL-3-Hydroxykynurenine
 484-78-6
L-3-Hydroxykynurenine
  • 3-(2-Amino-3-hydroxybenzoyl)-L-alanine
  • 3-(3-Hydroxyanthraniloyl)-L-alanine
  • 3-Hydroxy-L-kynurenine
  • L-3-HK
 606-14-4
genes like me logo Genes that share compounds with AADAT: view

Transcripts for AADAT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AADAT Gene

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(80) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AADAT Gene

Aminoadipate aminotransferase:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - -
SP5: - - - -
SP6:
SP7: - - - - - -
SP8:

ExUns: 16 ^ 17 ^ 18a · 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for AADAT Gene

GeneLoc Exon Structure for
AADAT
ECgene alternative splicing isoforms for
AADAT

Expression for AADAT Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for AADAT Gene
mRNA expression by GTEx for AADAT GenemRNA expression by BioGPS for AADAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AADAT Gene

This gene is overexpressed in Gallbladder (58.5).

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



Protein tissue co-expression partners for AADAT Gene

NURSA nuclear receptor signaling pathways regulating expression of AADAT Gene:

AADAT

SOURCE GeneReport for Unigene cluster for AADAT Gene:

Hs.529735

mRNA Expression by UniProt/SwissProt for AADAT Gene:

Q8N5Z0-AADAT_HUMAN
Tissue specificity: Higher expression in the liver. Also found in heart, brain, kidney, pancreas, prostate, testis and ovary.

Evidence on tissue expression from TISSUES for AADAT Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with AADAT: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AADAT Gene

Orthologs for AADAT Gene

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

Orthologs for AADAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AADAT 33 34
  • 99.37 (n)
dog
(Canis familiaris)
 Mammalia AADAT 33 34
  • 87.06 (n)
cow
(Bos Taurus)
 Mammalia AADAT 33 34
  • 85.25 (n)
mouse
(Mus musculus)
 Mammalia Aadat 33 16 34
  • 79.14 (n)
rat
(Rattus norvegicus)
 Mammalia Aadat 33
  • 77.23 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia AADAT 34
  • 71 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 70 (a)
 OneToMany
-- 34
  • 44 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves AADAT 33 34
  • 70.98 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 68 (a)
 OneToMany
-- 34
  • 59 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia aadat 33
  • 66.12 (n)
Str.16644 33
African clawed frog
(Xenopus laevis)
 Amphibia MGC68542 33
zebrafish
(Danio rerio)
 Actinopterygii LOC557979 33
  • 62.68 (n)
AADAT 34
  • 62 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ARO8 34 36
  • 27 (a)
 OneToMany
ARO9 34
  • 23 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4740 34
  • 54 (a)
 OneToOne
Species where no ortholog for AADAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for AADAT Gene

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

Paralogs for AADAT Gene

No data available for Paralogs for AADAT Gene

Variants for AADAT Gene

Sequence variations from dbSNP and Humsavar for AADAT Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000015012 -- 170,068,394(-) T/G intron_variant
rs1000052607 -- 170,066,623(-) T/C intron_variant
rs1000330744 -- 170,086,108(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000416079 -- 170,092,761(-) T/A upstream_transcript_variant
rs1000700408 -- 170,076,878(-) A/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv4601 CNV deletion 18451855
nsv830150 CNV gain 17160897

Variation tolerance for AADAT Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AADAT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AADAT

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

Disorders for AADAT Gene

Additional Disease Information for AADAT

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

No disorders were found for AADAT Gene.

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

Publications for AADAT Gene

  1. Crystal structure of human kynurenine aminotransferase II. (PMID: 18056995) Han Q … Li J (The Journal of biological chemistry 2008) 2 3 4 22 58
  2. Crystal structure of human kynurenine aminotransferase II, a drug target for the treatment of schizophrenia. (PMID: 18056996) Rossi F … Rizzi M (The Journal of biological chemistry 2008) 3 4 22 58
  3. Substrate specificity and structure of human aminoadipate aminotransferase/kynurenine aminotransferase II. (PMID: 18620547) Han Q … Li J (Bioscience reports 2008) 3 4 22 58
  4. Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT). (PMID: 12126930) Goh DL … Geraghty MT (Molecular genetics and metabolism 2002) 2 3 4 58
  5. Genomic organization and expression analysis of mouse kynurenine aminotransferase II, a possible factor in the pathophysiology of Huntington's disease. (PMID: 10441733) Yu P … Tagle DA (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3 22 58

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