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

AADAT Gene

protein-coding   GIFtS: 62
GCID: GC04M170981

Aminoadipate Aminotransferase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aminoadipate Aminotransferase1 2     2-Aminoadipate Aminotransferase2 3
Kynurenine Aminotransferase II1 2 3     2-Aminoadipate Transaminase2 3
KAT22 3 5     KAT/AadAT2 3
L Kynurenine/Alpha Aminoadipate Aminotransferase1 2     KATII2
Alpha-Aminoadipate Aminotransferase2 3     Kynurenine/Alpha-Aminoadipate Aminotransferase, Mitochondrial2
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 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. Two alternative transcripts encoding the same isoform have been identified,
however, additional alternative transcripts and isoforms may exist. (provided by RefSeq, Jul 2008)

GeneCards Summary for AADAT Gene: 
AADAT (aminoadipate aminotransferase) is a protein-coding gene. Diseases associated with AADAT include huntington's disease, and meningitis, and among its related super-pathways are Tryptophan metabolism and Metabolic pathways. GO annotations related to this gene include protein homodimerization activity and kynurenine-oxoglutarate transaminase activity.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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)
6/11 PDB 3D structures from and Proteopedia for AADAT (see all 11):
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

Explore proteomics data for AADAT at MOPED 

Post-translational modifications:

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

  • AADAT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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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    Cloud-Clone Corp. 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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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


    AADAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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:0003824catalytic activity ----
    GO:0016212kynurenine-oxoglutarate transaminase activity TAS--
    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:
         MGI mouse knock-out Aadattm1Tag for AADAT

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AADAT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AADAT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AADAT 
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    hsa-miR-590-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidAADAT 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AADAT About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde
    Tryptophan catabolism0.45
    4Lysine catabolism
    Lysine catabolism0.38
    5Carbon metabolism
    Biosynthesis of amino acids0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    5/6         Kegg Pathways  (Kegg details for AADAT) (see all 6):
        Lysine biosynthesis
    Lysine degradation
    Tryptophan metabolism
    Metabolic pathways
    2-Oxocarboxylic acid metabolism

    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)

    5/95 Interacting proteins for AADAT (Q8N5Z03 ENSP000002268404) via UniProtKB, MINT, STRING, and/or I2D (see all 95)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    WARSP233813, ENSP000003474954I2D: score=1 STRING: ENSP00000347495
    ALDH18A1P548863I2D: score=2 
    ACSF3Q4G1763I2D: score=1 
    ACTR2P611603I2D: score=1 
    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, Ligands according to IUPHAR, 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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

    AK055952 BX281257 AW472959 NM_182662 H72204 AI393635 BQ287909 AI024796 
    H92545 CA436887 NM_016228 CD722938 F11219 BC031068 N54512 W05694 
    AI580846 CB215768 BU154412 AI819354 AA568464 F08882 AI393644 BQ417366 

    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)      AADAT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTATCTGT
    AADAT Expression
    About this image


    AADAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Liver (Hepatobiliary System)

    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 and fungi.

    Orthologs for AADAT gene from 6/15 species (see all 15)    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
    --
    --
    61(a)
    59(a)
    many → 1
    many → 1
    GL343216.1(939292-964473)
    GL343216.1(901169-930389)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARO8(YGL202W)4 Aromatic aminotransferase I, expression is regulated more   --   7(116059-117561) 852672  NP_011313.1 


    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, 4UniProtKB, 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

    10/682 SNPs in AADAT are shown (see all 682)    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
         Database of Genomic Variants (DGV) 2 variations for AADAT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4601CNV Loss18451855
    nsv830150CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611754    OMIM disorders: --

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

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

    AADAT for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): AADAT
    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 33):
    (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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. 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)
    10. A meta-analysis of thyroid-related traits reveals nove l loci and gender-specific differences in the regulation of thyroid function. (PubMed id 23408906)1 Porcu E....Naitza S. (2013)

    (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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