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AADAT aminoadipate aminotransferase [ Homo sapiens (human) ]

Gene ID: 51166, updated on 5-Jan-2020

Summary

Official Symbol
AADATprovided by HGNC
Official Full Name
aminoadipate aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:17929
See related
Ensembl:ENSG00000109576 MIM:611754
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

Genomic context

See AADAT in Genome Data Viewer
Location:
4q33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2-aminoadipate transaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
kynurenine-oxoglutarate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kynurenine-oxoglutarate transaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
alpha-amino acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

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
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

NCBI Reference Sequences (RefSeq)

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, 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
    Q8N5Z0
    UniProtKB/TrEMBL
    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
    Q8N5Z0
    UniProtKB/TrEMBL
    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_182662.1NP_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, 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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 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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