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KYAT3 kynurenine aminotransferase 3 [ Homo sapiens (human) ]

Gene ID: 56267, updated on 5-Mar-2024

Summary

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Official Symbol
KYAT3provided by HGNC
Official Full Name
kynurenine aminotransferase 3provided by HGNC
Primary source
HGNC:HGNC:33238
See related
Ensembl:ENSG00000137944 MIM:610656; AllianceGenome:HGNC:33238
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
KAT3; CCBL2; KATIII
Summary
This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017]
Expression
Ubiquitous expression in thyroid (RPKM 13.7), esophagus (RPKM 12.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See KYAT3 in Genome Data Viewer
Location:
1p22.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (88921044..88992960, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (88764436..88836357, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89386727..89458643, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein kinase N2 Neighboring gene elongin C pseudogene 19 Neighboring gene general transcription factor IIB Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1293 Neighboring gene shieldin complex subunit 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:89456881-89457544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1052 Neighboring gene uncharacterized LOC124904215 Neighboring gene RBMX like 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:89487936-89489135 Neighboring gene guanylate binding protein 3

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. Cysteine conjugate beta-lyase 2 (CCBL2) expression as a prognostic marker of survival in breast cancer patients. Meng X, et al. PLoS One, 2022. PMID 35771747, Free PMC Article
  2. The kynurenine pathway in major depression: haplotype analysis of three related functional candidate genes. Claes S, et al. Psychiatry Res, 2011 Aug 15. PMID 21492941
  3. The presence of kynurenine aminotransferases in the human cornea: Evidence from bioinformatics analysis of gene expression and immunohistochemical staining. Matysik-Woźniak A, et al. Mol Vis, 2017. PMID 28706436, Free PMC Article
  4. Kynurenine aminotransferase III and glutamine transaminase L are identical enzymes that have cysteine S-conjugate β-lyase activity and can transaminate L-selenomethionine. Pinto JT, et al. J Biol Chem, 2014 Nov 7. PMID 25231977, Free PMC Article
  5. Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family. Yu P, et al. Gene, 2006 Jan 3. PMID 16376499

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cysteine conjugate beta-lyase 2 (CCBL2) expression as a prognostic marker of survival in breast cancer patients.
    Title: Cysteine conjugate beta-lyase 2 (CCBL2) expression as a prognostic marker of survival in breast cancer patients.
  2. 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.
  3. human KAT III/CCBL2 possesses cysteine S-conjugate beta-lyase activity, as does mouse KAT II
    Title: Kynurenine aminotransferase III and glutamine transaminase L are identical enzymes that have cysteine S-conjugate β-lyase activity and can transaminate L-selenomethionine.
  4. The haplotype of KAT III gene CGCTCT may have effect on the function of this enzyme in formation of kynurenic acid in some patients with major depressive episodes.
    Title: The kynurenine pathway in major depression: haplotype analysis of three related functional candidate genes.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. Using shotgun mass spectrometry, it was found that this protein is differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
    Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
Submit: New GeneRIF Correction

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
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

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

Clone Names

  • MGC9398, DKFZp547N1117, DKFZp667D0223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables cysteine-S-conjugate beta-lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables kynurenine-glyoxylate transaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables kynurenine-oxoglutarate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kynurenine-oxoglutarate transaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in 2-oxoglutarate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in L-kynurenine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in amino acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in kynurenine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
kynurenine--oxoglutarate transaminase 3
Names
cysteine-S-conjugate beta-lyase 2
kynurenine aminotransferase III
kynurenine--glyoxylate transaminase
kynurenine--oxoglutarate transaminase III
NP_001008661.1
NP_001008662.1
NP_001336376.1
NP_001336377.1
NP_001336378.1
NP_001336379.1

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_001008661.3 → NP_001008661.1  kynurenine--oxoglutarate transaminase 3 isoform 1

    See identical proteins and their annotated locations for NP_001008661.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AY028624
    Consensus CDS
    CCDS30766.1
    UniProtKB/Swiss-Prot
    B3KQ13, O95335, Q5JS27, Q5T9T7, Q5T9T8, Q6AI27, Q6ICW1, Q6YP21, Q9BVY5
    UniProtKB/TrEMBL
    B4DW13
    Related
    ENSP00000260508.4, ENST00000260508.9
    Conserved Domains (1) summary
    PRK07777
    Location:44 → 449
    PRK07777; putative succinyldiaminopimelate transaminase DapC

  2. NM_001008662.3 → NP_001008662.1  kynurenine--oxoglutarate transaminase 3 isoform 2

    See identical proteins and their annotated locations for NP_001008662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and uses a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AI478599, AK057176
    Consensus CDS
    CCDS30767.1
    UniProtKB/Swiss-Prot
    Q6YP21
    Related
    ENSP00000359522.3, ENST00000370491.7
    Conserved Domains (1) summary
    cl27741
    Location:10 → 415
    Aminotran_1_2; Aminotransferase class I and II

  3. NM_001349447.1 → NP_001336376.1  kynurenine--oxoglutarate transaminase 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a segment in the 5' UTR, lacks an alternate exon in the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AL139416, AL445991
    Consensus CDS
    CCDS30767.1
    Conserved Domains (1) summary
    cl27741
    Location:10 → 415
    Aminotran_1_2; Aminotransferase class I and II

  4. NM_001349448.1 → NP_001336377.1  kynurenine--oxoglutarate transaminase 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a segment in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AL139416, AL445991
    Consensus CDS
    CCDS30766.1
    UniProtKB/Swiss-Prot
    B3KQ13, O95335, Q5JS27, Q5T9T7, Q5T9T8, Q6AI27, Q6ICW1, Q6YP21, Q9BVY5
    UniProtKB/TrEMBL
    B4DW13
    Conserved Domains (1) summary
    PRK07777
    Location:44 → 449
    PRK07777; putative succinyldiaminopimelate transaminase DapC

  5. NM_001349449.1 → NP_001336378.1  kynurenine--oxoglutarate transaminase 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has a shorter 5' UTR, lacks an exon in the 5' region and contains an alternate exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 5 and 6 encode the same isoform (3).
    Source sequence(s)
    AL139416, AL445991
    Conserved Domains (1) summary
    cl27741
    Location:1 → 285
    Aminotran_1_2; Aminotransferase class I and II

  6. NM_001349450.1 → NP_001336379.1  kynurenine--oxoglutarate transaminase 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has a shorter 5' UTR, contains an alternate exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 5 and 6 encode the same isoform (3).
    Source sequence(s)
    AI478599, AL833593, AY028624, DA943114
    Related
    ENST00000446900.6
    Conserved Domains (1) summary
    cl27741
    Location:1 → 285
    Aminotran_1_2; Aminotransferase class I and II

RNA

  1. NR_146183.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) is shorter at the 5' end and differs in the 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AL139416, AL445991

  2. NR_146184.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AL139416, AL445991

  3. NR_146185.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) is shorter at the 5' end, lacks two internal exons and contains an alternate internal exon, and differs in the 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AL139416, AL445991

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    88921044..88992960 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    88764436..88836357 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6YP21.1 GenPept UniProtKB/Swiss-Prot:Q6YP21

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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