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    AADAT aminoadipate aminotransferase [ Homo sapiens (human) ]

    Gene ID: 51166, updated on 16-Apr-2018
    Official Symbol
    AADATprovided by HGNC
    Official Full Name
    aminoadipate aminotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:17929
    See related
    Ensembl:ENSG00000109576 MIM:611754; Vega:OTTHUMG00000160912
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAT2; KATII; KYAT2
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 11.4), prostate (RPKM 6.3) and 19 other tissues See more
    Orthologs
    Location:
    4q33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (170060222..170091699, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170981373..171012823, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377530 Neighboring gene long intergenic non-protein coding RNA 2275 Neighboring gene microfibril associated protein 3 like Neighboring gene uncharacterized LOC107986326 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3A pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 1612

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    2-aminoadipate transaminase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    2-aminoadipate transaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kynurenine-oxoglutarate transaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kynurenine-oxoglutarate transaminase activity TAS
    Traceable Author Statement
    more info
     
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    2-oxoglutarate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-kynurenine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
     
    biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kynurenine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysine catabolic process TAS
    Traceable Author Statement
    more info
     
    tryptophan catabolic process TAS
    Traceable Author Statement
    more info
     
    tryptophan catabolic process to kynurenine IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    kynurenine/alpha-aminoadipate aminotransferase, mitochondrial
    Names
    2-aminoadipate aminotransferase
    2-aminoadipate transaminase
    KAT/AadAT
    L kynurenine/alpha aminoadipate aminotransferase
    alpha-aminoadipate aminotransferase
    kynurenine aminotransferase II
    kynurenine--oxoglutarate aminotransferase II
    kynurenine--oxoglutarate transaminase 2
    kynurenine--oxoglutarate transaminase II
    NP_001273611.1
    NP_001273612.1
    NP_057312.1
    NP_872603.1
    XP_006714294.1
    XP_011530322.1
    XP_024309845.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286682.1NP_001273611.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_001273611.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longer isoform (a).
      Source sequence(s)
      AK055952, AK314729, BC031068
      Consensus CDS
      CCDS75209.1
      UniProtKB/Swiss-Prot
      Q8N5Z0
      UniProtKB/TrEMBL
      Q4W5N8
      Related
      ENSP00000423190.1, OTTHUMP00000219264, ENST00000509167.5, OTTHUMT00000362928
      Conserved Domains (2) summary
      cd00609
      Location:38423
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      pfam00155
      Location:71421
      Aminotran_1_2; Aminotransferase class I and II
    2. NM_001286683.1NP_001273612.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001273612.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of the first coding exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).
      Source sequence(s)
      AK314729, BC031068
      Consensus CDS
      CCDS3814.1
      UniProtKB/Swiss-Prot
      Q8N5Z0
      UniProtKB/TrEMBL
      Q4W5N8
      Related
      ENSP00000423341.1, OTTHUMP00000219261, ENST00000515480.5, OTTHUMT00000362921
      Conserved Domains (1) summary
      COG1167
      Location:8423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]
    3. NM_016228.3NP_057312.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_057312.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of the first coding exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).
      Source sequence(s)
      AF097994
      Consensus CDS
      CCDS3814.1
      UniProtKB/Swiss-Prot
      Q8N5Z0
      UniProtKB/TrEMBL
      Q4W5N8
      Related
      ENSP00000336808.4, OTTHUMP00000219277, ENST00000337664.8, OTTHUMT00000362952
      Conserved Domains (1) summary
      COG1167
      Location:8423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]
    4. NM_182662.1NP_872603.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_872603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of the first coding exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).
      Source sequence(s)
      AK055952
      Consensus CDS
      CCDS3814.1
      UniProtKB/Swiss-Prot
      Q8N5Z0
      UniProtKB/TrEMBL
      Q4W5N8
      Related
      ENSP00000226840.4, OTTHUMP00000219276, ENST00000353187.6, OTTHUMT00000362951
      Conserved Domains (1) summary
      COG1167
      Location:8423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      170060222..170091699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714231.2XP_006714294.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd00609
      Location:73458
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      pfam00155
      Location:106456
      Aminotran_1_2; Aminotransferase class I and II
    2. XM_011532020.2XP_011530322.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X3

      Conserved Domains (2) summary
      cd00609
      Location:9304
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      COG1167
      Location:7308
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]
    3. XM_024454077.1XP_024309845.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      Conserved Domains (1) summary
      COG1167
      Location:8423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]
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