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    AADAT aminoadipate aminotransferase [ Homo sapiens (human) ]

    Gene ID: 51166, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Purification and properties of alpha-aminoadipate aminotransferase from rat liver and kidney mitochondria. Mawal MR, et al. Prep Biochem, 1991. PMID 1798692
    2. 2-Aminoadipate-2-oxoglutarate aminotransferase isoenzymes in human liver: a plausible physiological role in lysine and tryptophan metabolism. Okuno E, et al. Enzyme Protein, 1993. PMID 8087205
    3. Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis. de Souza FR, et al. BMC Med Genet, 2011 Apr 7. PMID 21473761, Free PMC Article
    4. Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT). Goh DL, et al. Mol Genet Metab, 2002 Jul. PMID 12126930
    5. Expression, purification and crystallization of human kynurenine aminotransferase 2 exploiting a highly optimized codon set. Sun G, et al. Protein Expr Purif, 2016 May. PMID 26773745

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.
      Title: Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.
    2. N-Acetylcysteine Inhibits Kynurenine Aminotransferase II.
      Title: N-Acetylcysteine Inhibits Kynurenine Aminotransferase II.
    3. In this work, we assessed the relationship between single-nucleotide polymorphisms (SNPs) of KAT1, KAT2 and IDO1 gene encoding, and the risk of depression development. Our study was performed on the DNA isolated from peripheral blood of 281 depressed patients and 236 controls. We genotyped, by using TaqMan probes, four polymorphism.
      Title: Variation of genes encoding KAT1, AADAT and IDO1 as a potential risk of depression development.
    4. The free thyroxine(FT4)-associated variant rs6854291-influences transcript levels of kynurenine/alpha-aminoadipate aminotransferase (AADAT) in thyroid, implicating AADAT as the causal gene underlying the FT4 association at this locus. AADAT-rs6854291 is associated with both the 3,3',5-triiodothyronine (T3) levels and T3/T4 ratio.
      Title: Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
    5. Immunohistochemical analysis revealed the presence of KAT I, II, and III in all examined corneal sections.
      Title: The presence of kynurenine aminotransferases in the human cornea: Evidence from bioinformatics analysis of gene expression and immunohistochemical staining.
    6. he optimised method of protein production provides a fast and reliable technique to generate large quantities of active human KAT2 suitable for future small-molecule lead compound screening and structural design work.
      Title: Expression, purification and crystallization of human kynurenine aminotransferase 2 exploiting a highly optimized codon set.
    7. Participants with major depression had lower levels of kynurenine compared to controls, with intermediate concentrations in somatoform patients.
      Title: Exercise affects symptom severity but not biological measures in depression and somatization - results on IL-6, neopterin, tryptophan, kynurenine and 5-HIAA.
    8. Somatization is characterized by disorders in kynurenine aminotransferase activity and an increased neurotoxic potential
      Title: 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.
    9. association of SNP AADAT+401C/T with the host immune response to bacterial meningitis, suggesting that this SNP may affect the host ability in recruitment of leukocytes to the infection site
      Title: Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2-aminoadipate transaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycine:2-oxoglutarate aminotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kynurenine-glyoxylate transaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kynurenine-oxoglutarate transaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables kynurenine-oxoglutarate transaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methionine-glyoxylate transaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in alpha-amino acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in kynurenine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    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)

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    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_001286682.2 → NP_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:38 → 423
      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:71 → 421
      Aminotran_1_2; Aminotransferase class I and II

    2. NM_001286683.1 → NP_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:8 → 423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]

    3. NM_016228.4 → NP_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:8 → 423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]

    4. NM_182662.2 → NP_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:8 → 423
      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_047415763.1 → XP_047271719.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8

    2. XM_006714231.3 → XP_006714294.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd00609
      Location:73 → 458
      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:106 → 456
      Aminotran_1_2; Aminotransferase class I and II

    3. XM_024454077.2 → XP_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:8 → 423
      ARO8; DNA-binding transcriptional regulator, MocR family, contains an aminotransferase domain [Transcription, Amino acid transport and metabolism]

    4. XM_011532020.3 → XP_011530322.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X3

      Conserved Domains (2) summary
      cd00609
      Location:9 → 304
      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:7 → 308
      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_054350150.1 → XP_054206125.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8

    2. XM_054350148.1 → XP_054206123.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X1

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

      UniProtKB/Swiss-Prot
      B3KP84, Q8N5Z0, Q9UL02
      UniProtKB/TrEMBL
      D3DP36, Q4W5N8

    4. XM_054350151.1 → XP_054206126.1  kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5Z0.2 GenPept UniProtKB/Swiss-Prot:Q8N5Z0

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