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AADAT aminoadipate aminotransferase [ Homo sapiens (human) ]

Gene ID: 51166, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (170060222..170094292, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (173420406..173454472, complement)
105.20220307 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: 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

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Related articles in PubMed

  1. 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
  2. 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
  3. Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT). Goh DL, et al. Mol Genet Metab, 2002 Jul. PMID 12126930
  4. 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
  5. Purification and properties of alpha-aminoadipate aminotransferase from rat liver and kidney mitochondria. Mawal MR, et al. Prep Biochem, 1991. PMID 1798692

See all (28) 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)

Genotypes

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-kynurenine metabolic process IEA
Inferred from Electronic Annotation
more info
  
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
  

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_2023_10

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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