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    AADAT aminoadipate aminotransferase [ Homo sapiens (human) ]

    Gene ID: 51166, updated on 2-Nov-2024

    Summary

    Official Symbol
    AADATprovided by HGNC
    Official Full Name
    aminoadipate aminotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:17929
    See related
    Ensembl:ENSG00000109576 MIM:611754; AllianceGenome:HGNC:17929
    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
    NEW
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    Genomic context

    See AADAT in Genome Data Viewer
    Location:
    4q33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (170060222..170094292, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (173420406..173454472, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170981373..171011538, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene microfibril associated protein 3 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170947923-170948642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22146 Neighboring gene uncharacterized LOC101928198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170966616-170967155 Neighboring gene uncharacterized LOC107986326 Neighboring gene Sharpr-MPRA regulatory region 13980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:171012523-171013217 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3A pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:171031353-171031916 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:171037443-171037979 Neighboring gene Sharpr-MPRA regulatory region 13452 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76196 Neighboring gene long intergenic non-protein coding RNA 1612

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 

    General protein information

    Preferred Names
    kynurenine/alpha-aminoadipate aminotransferase, mitochondrial
    Names
    2-aminoadipate aminotransferase
    2-aminoadipate transaminase
    KAT/AadAT
    L kynurenine/alpha aminoadipate aminotransferase
    alpha-aminoadipate aminotransferase
    glycine transaminase AADAT
    kynurenine aminotransferase II
    kynurenine--glyoxylate transaminase AADAT
    kynurenine--oxoglutarate aminotransferase II
    kynurenine--oxoglutarate transaminase 2
    kynurenine--oxoglutarate transaminase II
    methionine--glyoxylate transaminase AADAT
    NP_001273611.1
    NP_001273612.1
    NP_057312.1
    NP_872603.1
    XP_006714294.1
    XP_011530322.1
    XP_024309845.1
    XP_047271719.1
    XP_054206123.1
    XP_054206124.1
    XP_054206125.1
    XP_054206126.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001286682.2NP_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)
      AC084866, AK055952, AK314729, BC031068
      Consensus CDS
      CCDS75209.1
      UniProtKB/Swiss-Prot
      Q8N5Z0
      UniProtKB/TrEMBL
      Q4W5N8
      Related
      ENSP00000423190.1, ENST00000509167.5
      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
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
      Related
      ENSP00000423341.1, ENST00000515480.5
      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_016228.4NP_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)
      AC084866
      Consensus CDS
      CCDS3814.1
      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
      Related
      ENSP00000336808.4, ENST00000337664.9
      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_182662.2NP_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)
      AC084866
      Consensus CDS
      CCDS3814.1
      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
      Related
      ENSP00000226840.4, ENST00000353187.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      170060222..170094292 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415763.1XP_047271719.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
    2. XM_006714231.3XP_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
    3. XM_024454077.2XP_024309845.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
      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. XM_011532020.3XP_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]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      173420406..173454472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350150.1XP_054206125.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
    2. XM_054350148.1XP_054206123.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X1

    3. XM_054350149.1XP_054206124.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8
    4. XM_054350151.1XP_054206126.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X3

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