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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AADAT Gene

protein-coding   GIFtS: 56
GCID: GC04M170981

aminoadipate aminotransferase

 Explore 7 diseases affiliated with
AADAT via our new
 Human Malady Compendium 
Biological research products
for AADAT
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aminoadipate Aminotransferase1 2     2-Aminoadipate Aminotransferase2 3
KAT21 2 3 5     2-Aminoadipate Transaminase2 3
KATII1 2     KAT/AadAT2 3
Alpha-Aminoadipate Aminotransferase2 3     Kynurenine/Alpha-Aminoadipate Aminotransferase, Mitochondrial2
Kynurenine Aminotransferase II2 3     L Kynurenine/Alpha Aminoadipate Aminotransferase2
Kynurenine--Oxoglutarate Aminotransferase II2 3     AadAT3
Kynurenine--Oxoglutarate Transaminase 22 3     EC 2.6.1.393
Kynurenine--Oxoglutarate Transaminase II2 3     EC 2.6.1.73

External Ids:    HGNC: 179291   Entrez Gene: 511662   Ensembl: ENSG000001095767   OMIM: 6117545   UniProtKB: Q8N5Z03   

Export aliases for AADAT gene to outside databases

Previous GC identifers: GC00U991148 GC04M171565 GC04M171677 GC04M171356 GC04M171218 GC04M166736


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AADAT:
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. Two alternative transcripts encoding the same isoform have been identified, however, additional
alternative transcripts and isoforms may exist. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AADAT_HUMAN, Q8N5Z0
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AADAT gene promoter:
         SREBP-1a   SREBP-1c   Tal-1beta   E47   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAADAT promoter sequence
   Search SABiosciences Chromatin IP Primers for AADAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AADAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q33   Ensembl cytogenetic band:  4q33   HGNC cytogenetic band: 4q33

AADAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AADAT gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M170981:  view genomic region     (about GC identifiers)

Start:
170,981,373 bp from pter      End:
171,012,850 bp from pter
Size:
31,478 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AADAT_HUMAN, Q8N5Z0 (See protein sequence)
Recommended Name: Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial precursor  
Size: 425 amino acids; 47352 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Subcellular location: Mitochondrion (Potential)
6/10 PDB 3D structures from and Proteopedia for AADAT (see all 10):
2QLR (3D)        2R2N (3D)        2VGZ (3D)        2XH1 (3D)        3DC1 (3D)        3UE8 (3D)    
Secondary accessions: B3KP84 Q9UL02
Alternative splicing: 2 isoforms:  Q8N5Z0-1   Q8N5Z0-2   (May be due to a competing donor splice site)

Explore the universe of human proteins at neXtProt for AADAT: NX_Q8N5Z0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N5Z0

  • AADAT Protein expression data from MOPED and PaxDb:    About this image 
    AADAT Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_057312.1  NP_872603.1  

    ENSEMBL proteins: 
     ENSP00000336808   ENSP00000423190   ENSP00000423341   ENSP00000226840   ENSP00000425067  
     ENSP00000421389   ENSP00000423843  
    Reactome Protein details: Q8N5Z0
    Human Recombinant Protein Products for AADAT: 
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    Uscn Proteins for AADAT

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    AADAT for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AADAT for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry Q8N5Z0

    ProtoNet protein and cluster: Q8N5Z0

    UniProtKB/Swiss-Prot: AADAT_HUMAN, Q8N5Z0
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AADAT_HUMAN, Q8N5Z0
    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)
    Catalytic activity: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate
    Catalytic activity: L-2-aminoadipate + 2-oxoglutarate = 2-oxoadipate + L-glutamate
    Enzyme regulation: Kynurenine transaminase activity is competitively inhibited by aminoadipate, asparagine, glutamate,
    histidine, cysteine, lysine, 3-hydroxy-kynurenine and phenylalanine
    Biophysicochemical properties: Kinetic parameters: KM=0.9 mM for aminoadipate; KM=4.7 mM for kynurenine; KM=1.7 mM for
    methionine; KM=1.6 mM for glutamate; KM=1.8 mM for tyrosine; KM=1.2 mM for 2-oxoglutarate; KM=1.5 mM for 2-oxocaproic
    acid; KM=1.8 mM for phenylpyruvate; KM=1.4 mM for ino-3-pyruvate; pH dependence: Optimum pH is 7-9; Temperature
    dependence: Optimum temperature is 50 degrees Celsius;

         Enzyme Numbers (IUBMB): EC 2.6.1.391 EC 2.6.1.71

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016212kynurenine-oxoglutarate transaminase activity TAS--
    GO:0016740transferase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0042803protein homodimerization activity IPI18620547
    GO:00475362-aminoadipate transaminase activity IDA18620547
         
    AADAT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AADAT:
     Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aadat):
     behavior/neurological  nervous system  vision/eye 

    AADAT for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Aadattm1Tag for AADAT
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AADAT 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    2Tryptophan metabolism
    Tryptophan metabolism1.00
    Tryptophan metabolism0.47
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    4Lysine catabolism
    Lysine catabolism1.00
    5Lysine degradation
    Lysine degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for AADAT 
        Tryptophan metabolism

    4        Reactome Pathways for AADAT
        Tryptophan catabolism
    Lysine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    4         Kegg Pathways  (Kegg details for AADAT):
        Lysine biosynthesis
    Lysine degradation
    Tryptophan metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AADAT_HUMAN, Q8N5Z0
    Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 4/6


    AADAT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AADAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/96 Interacting proteins for AADAT (Q8N5Z03 ENSP000002268404) via UniProtKB, MINT, STRING, and/or I2D (see all 96)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NME1-NME2P223923I2D: score=1 
    NME2P223923I2D: score=1 
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    WARSP233813, ENSP000003474954I2D: score=1 STRING: ENSP00000347495
    ALDH18A1P548863I2D: score=2 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process IDA18620547
    GO:0006536glutamate metabolic process IDA18620547
    GO:0006554lysine catabolic process TAS--
    GO:0006569tryptophan catabolic process TAS--
    GO:0009058biosynthetic process IEA--

    AADAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AADAT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for AADAT

    Browse Tocris compounds for AADAT

    10 HMDB Compounds for AADAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoic acid4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoate (see all 2)----
    4-(2-Aminophenyl)-2,4-dioxobutanoic acid4-(2-aminophenyl)-2,4-dioxobutanoate (see all 4)----
    Aminoadipic acid(+/-)-2-Aminoadipate (see all 24)542-32-5--
    FamotidineAmfamox (see all 83)76824-35-6--
    Hydroxykynurenine3-(3-hydroxyanthraniloyl)-Alanine (see all 7)484-78-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Kynurenine(S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate (see all 15)343-65-7--
    Oxoadipic acidalpha-ketoadipic acid (see all 19)3184-35-8--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    2 DrugBank Compounds for AADAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423 12850557
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor12126930 15016471

    3 Novoseek chemical compound relationships for AADAT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kynurenine 93.1 26 8350986 (2), 10441733 (2), 18056995 (2), 16511030 (2) (see all 14)
    kynurenic acid 89.8 14 10441733 (1), 14559362 (1), 16099455 (1), 18056995 (1) (see all 8)
    alpha-aminoadipate 82.9 2 14559362 (1), 8087205 (1)

    Search CenterWatch for drugs/clinical trials and news about AADAT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AADAT gene (2 alternative transcripts): 
    NM_016228.3  NM_182662.1  

    Unigene Cluster for AADAT:

    Aminoadipate aminotransferase
    Hs.529735  [show with all ESTs]
    Unigene Representative Sequence: AF481738
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337664(uc003isr.3) ENST00000509167(uc003ist.3) ENST00000515480
    ENST00000353187(uc003iss.3) ENST00000505906 ENST00000510340 ENST00000507375
    ENST00000502392

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    Additional cDNA sequence: 

    AF481738.1 AK055952.1 AK314729.1 BC031068.1 

    10 DOTS entries:

    DT.310471  DT.100019700  DT.40299440  DT.95259621  DT.91865689  DT.95245901  DT.100719445  DT.87046874 
    DT.95340712  DT.108019 

    24/80 AceView cDNA sequences (see all 80):

    AI580846 W05694 CA436887 BQ287909 AA568464 BC031068 AI024796 BX281257 
    CD722938 AI819354 AI393635 NM_182662 N54512 H92545 CB215768 H72204 
    BU154412 NM_016228 AK055952 AW472959 F11219 F08882 BP375293 BG195687 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AADAT (see all 8)    About this scheme

    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:                                      -     -           -     -                                                                                             

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


    ECgene alternative splicing isoforms for AADAT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AADAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTATCTGT
    AADAT Expression
    About this image
    See AADAT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AADAT

    SOURCE GeneReport for Unigene cluster: Hs.529735

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including AADAT: 
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AADAT gene from 6/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aadat1 , 5 aminoadipate aminotransferase1, 5 79.14(n)1
    73.41(a)1
      8 (30.85 cM)5
    239231  NM_011834.21  NP_035964.11 
     605061245 
    chicken
    (Gallus gallus)
    Aves AADAT1 aminoadipate aminotransferase 70.98(n)
    68.94(a)
      428728  XM_426286.3  XP_426286.3 
    lizard
    (Anolis carolinensis)
    Reptilia AADAT6
    --
    69(a)
    1 ↔ 1
    GL343216.1(939292-955373)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685422 hypothetical protein MGC68542 72.17(n)    BC059968.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5579791 kynurenine/alpha-aminoadipate aminotransferase, mitochondrial-like 62.76(n)
    63.78(a)
      557979  XM_681142.5  XP_686234.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG63216
    --
    18(a)
    1 ↔ 1
    3L(11052537-11054324)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/543 NCBI SNPs in AADAT are shown (see all 543    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1400841981,2
    --170980974(+) ATGAAC/TACAGG 2 -- ds50010--------
    rs1413102861,2
    C--170981198(+) AAAAA-/ATAGTTA 2 -- ds50010--------
    rs1504858381,2
    --170981222(+) TAATAC/TCTTAA 2 -- ds50010--------
    rs1879640641,2
    --170981232(+) AAGGGC/TTGTAG 2 -- ds50010--------
    rs1169710621,2
    F--170981306(+) CAATGT/CAGTAA 2 -- ds50011Minor allele frequency- C:0.04EA 120
    rs1383021951,2
    --170981425(+) CATAAC/GGTTTA 2 -- ut310--------
    rs1440187111,2
    --170981431(+) GTTTAG/TGGTAC 2 -- ut310--------
    rs1814731311,2
    --170981433(+) TTATGG/TTACTT 2 -- ut310--------
    rs345881851,2
    C--170981469(+) AAATT-/ATAACA 2 -- ut312Minor allele frequency- A:0.25NA 4
    rs1467040431,2
    --170981568(+) TCTCAA/GAATAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for AADAT (170981373 - 171012850 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AADAT: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AADAT for disorders           About GeneDecksing

    OMIM gene information: 611754    OMIM disorders: --

    7 diseases for AADAT:    About MalaCards
    huntington's disease    down syndrome    meningitis    pneumonia
    schizophrenia    prostatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for AADAT:
    Huntington's disease

    1 Novoseek disease relationship for AADAT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 41.3 1 10441733 (1)

    Human Genome Epidemiology (HuGE) Navigator: AADAT (1 document)

    Export disorders for AADAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AADAT gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with AADAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT). (PubMed id 12126930)1, 2, 3, 7 Goh D.L.M.... Geraghty M.T. (2002)
    2. Substrate specificity and structure of human aminoadipate aminotransferase/kynurenine aminotransferase II. (PubMed id 18620547)1, 2, 9 Han Q.... Li J. (2008)
    3. Crystal structure of human kynurenine aminotransferase II. (PubMed id 18056995)1, 2, 9 Han Q.... Li J. (2008)
    4. Genomic organization and expression analysis of mouse kynurenine aminotransferase II, a possible factor in the pathophysiology of Huntington's disease. (PubMed id 10441733)1, 3, 9 Yu P....Tagle D.A. (1999)
    5. Crystal structure of human kynurenine aminotransferase II, a drug target for the treatment of schizophrenia. (PubMed id 18056996)1, 2, 9 Rossi F.... Rizzi M. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 2-Aminoadipate-2-oxoglutarate aminotransferase isoenzymes in human liver: a plausible physiological role in lysine and tryptophan metabolism. (PubMed id 8087205)1, 9 Okuno E....Kido R. (1993)
    9. Association of kynurenine aminotransferase II gene C4 01T polymorphism with immune response in patients with meningitis. (PubMed id 21473761)1 de Souza F.R....Agnez-Lima L.F. (2011)
    10. Somatization, but not depression, is characterized by disorders in the tryptophan catabolite (TRYCAT) pathway, indicating increased indoleamine 2,3-dioxygenase and lowered kynurenine aminotransferase activity. (PubMed id 21712776)1 Maes M....Rief W. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51166 HGNC: 17929 AceView: AADAT Ensembl:ENSG00000109576 euGenes: HUgn51166
    ECgene: AADAT Kegg: 51166 H-InvDB: AADAT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AADAT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AADAT gene:
    Search GeneIP for patents involving AADAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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