This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identifie... See more...

Aliases for KYAT1 Gene

Aliases for KYAT1 Gene

  • Kynurenine Aminotransferase 1 2 3 4 5
  • Glutamine--Phenylpyruvate Transaminase 2 3 4
  • Kynurenine Aminotransferase I 2 3 4
  • Glutamine Transaminase K 2 3 4
  • KATI 2 3 4
  • GTK 2 3 4
  • Cysteine Conjugate-Beta Lyase; Cytoplasmic (Glutamine Transaminase K, Kyneurenine Aminotransferase) 2 3
  • Kynurenine--Oxoglutarate Transaminase 1 3 4
  • Kynurenine--Oxoglutarate Transaminase I 3 4
  • Cysteine Conjugate Beta Lyase 1 2 3
  • Cysteine-S-Conjugate Beta-Lyase 3 4
  • CCBL1 3 4
  • Cysteine Conjugate-Beta Lyase, Cytoplasmic 3
  • Glutamine-Phenylpyruvate Aminotransferase 3
  • Kyneurenine Aminotransferase 3
  • Beta-Lysase, Kidney 3
  • EC 4.4.1.13 4
  • EC 2.6.1.64 4
  • EC 2.6.1.7 4
  • KYAT1 5
  • KAT1 3

External Ids for KYAT1 Gene

Previous HGNC Symbols for KYAT1 Gene

  • CCBL1

Summaries for KYAT1 Gene

Entrez Gene Summary for KYAT1 Gene

  • This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KYAT1 Gene

KYAT1 (Kynurenine Aminotransferase 1) is a Protein Coding gene. Diseases associated with KYAT1 include Schizophrenia. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Drug metabolism - cytochrome P450. An important paralog of this gene is ENSG00000286112.

UniProtKB/Swiss-Prot Summary for KYAT1 Gene

  • Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond.

Gene Wiki entry for KYAT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KYAT1 Gene

Genomics for KYAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KYAT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KYAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KYAT1

Genomic Locations for KYAT1 Gene

Genomic Locations for KYAT1 Gene
chr9:128,832,942-128,882,523
(GRCh38/hg38)
Size:
49,582 bases
Orientation:
Minus strand
chr9:131,595,221-131,644,773
(GRCh37/hg19)
Size:
49,553 bases
Orientation:
Minus strand

Genomic View for KYAT1 Gene

Genes around KYAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KYAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KYAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KYAT1 Gene

Proteins for KYAT1 Gene

  • Protein details for KYAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16773-KAT1_HUMAN
    Recommended name:
    Kynurenine--oxoglutarate transaminase 1
    Protein Accession:
    Q16773
    Secondary Accessions:
    • Q5T275
    • Q8N191

    Protein attributes for KYAT1 Gene

    Size:
    422 amino acids
    Molecular mass:
    47875 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for KYAT1 Gene

    Alternative splice isoforms for KYAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KYAT1 Gene

Post-translational modifications for KYAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KYAT1 Gene

Domains & Families for KYAT1 Gene

Gene Families for KYAT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for KYAT1 Gene

InterPro:
Blocks:
  • Aminotransferase, class I and II
ProtoNet:

Suggested Antigen Peptide Sequences for KYAT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95217, Homo sapiens cysteine conjugate-beta lyase (A8K563_HUMAN)
  • cDNA FLJ56468, highly similar to Kynurenine--oxoglutarate transaminase 1 (EC 2.6.1.7) (B7Z4W5_HUMAN)
  • Kynurenine--oxoglutarate transaminase I (KAT1_HUMAN)
  • Cysteine conjugate-beta lyase, cytoplasmic (Q5T277_HUMAN)
  • Cysteine conjugate beta-lyase (Q9UQN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16773

UniProtKB/Swiss-Prot:

KAT1_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with KYAT1: view

Function for KYAT1 Gene

Molecular function for KYAT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-kynurenine = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate; Xref=Rhea:RHEA:20964, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57959, ChEBI:CHEBI:58147; EC=2.6.1.7; Evidence={ECO:0000269|PubMed:19338303};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-phenylpyruvate + L-glutamine = 2-oxoglutaramate + L-phenylalanine; Xref=Rhea:RHEA:17593, ChEBI:CHEBI:16769, ChEBI:CHEBI:18005, ChEBI:CHEBI:58095, ChEBI:CHEBI:58359; EC=2.6.1.64; Evidence={ECO:0000269|PubMed:19338303};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an S-substituted L-cysteine + H2O = a thiol + NH4(+) + pyruvate; Xref=Rhea:RHEA:18121, ChEBI:CHEBI:15361, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:29256, ChEBI:CHEBI:58717; EC=4.4.1.13; Evidence={ECO:0000269|PubMed:19338303};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by tryptophan, indole-3-pyruvic acid, 3-indolepropionic acid, DL-indole-3-lactic acid, indole-3-acetic acid (IAC) and Tris.

Enzyme Numbers (IUBMB) for KYAT1 Gene

Phenotypes From GWAS Catalog for KYAT1 Gene

Gene Ontology (GO) - Molecular Function for KYAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008483 transaminase activity IEA,TAS 7883047
GO:0016212 kynurenine-oxoglutarate transaminase activity IEA,IDA 19338303
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with KYAT1: view
genes like me logo Genes that share phenotypes with KYAT1: view

Animal Models for KYAT1 Gene

MGI Knock Outs for KYAT1:
  • Kyat1 Kyat1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for KYAT1 Gene

miRTarBase miRNAs that target KYAT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KYAT1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KYAT1 Gene

Localization for KYAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KYAT1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KYAT1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KYAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with KYAT1: view

Pathways & Interactions for KYAT1 Gene

genes like me logo Genes that share pathways with KYAT1: view

UniProtKB/Swiss-Prot Q16773-KAT1_HUMAN

  • Pathway: Amino-acid degradation; L-kynurenine degradation; kynurenate from L-kynurenine: step 1/2.

Gene Ontology (GO) - Biological Process for KYAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006569 tryptophan catabolic process TAS --
GO:0006575 cellular modified amino acid metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with KYAT1: view

No data available for SIGNOR curated interactions for KYAT1 Gene

Drugs & Compounds for KYAT1 Gene

(28) Drugs for KYAT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Agonist, Full agonist, Enzyme, substrate 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Phenylalanine Approved, Investigational Nutra 256
Ammonia Approved Pharma 0
Water Approved Pharma 0

(21) Additional Compounds for KYAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Keto-glutaramic acid
  • 2-Ketoglutaramate
  • alpha-Ketoglutaramate
  • 2-Ketoglutaramic acid
  • 2-keto-Glutaramate
  • a-Ketoglutaramate
18465-19-5
4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoic acid
  • 4-(2-amino-3-Hydroxyphenyl)-2,4-dioxobutanoate
4-(2-Aminophenyl)-2,4-dioxobutanoic acid
  • 4-(2-Aminophenyl)-2,4-dioxobutanoate
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoate
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoic acid
L-3-Hydroxykynurenine
  • (2S)-2-amino-4-(2-amino-3-Hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)-L-alanine
  • (2S)-2-amino-4-(2-amino-3-Hydroxyphenyl)-4-oxobutanoate
  • 3-(2-amino-3-Hydroxybenzoyl)-L-alanine
  • 3-Hydroxy-L-kynurenine
606-14-4
Methylselenopyruvate
  • beta-Methylselenopyruvate
  • b-Methylselenopyruvate
  • b-Methylselenopyruvic acid
  • beta-Methylselenopyruvic acid
  • β-methylselenopyruvate
genes like me logo Genes that share compounds with KYAT1: view

Transcripts for KYAT1 Gene

mRNA/cDNA for KYAT1 Gene

16 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KYAT1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KYAT1 Gene

No ASD Table

Relevant External Links for KYAT1 Gene

GeneLoc Exon Structure for
KYAT1

Expression for KYAT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KYAT1

Evidence on tissue expression from TISSUES for KYAT1 Gene

  • Nervous system(4.6)
  • Kidney(4.4)
  • Muscle(4.3)
  • Liver(2.1)
  • Blood(2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KYAT1 Gene

Orthologs for KYAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KYAT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCBL1 30 31
  • 99.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCBL1 30 31
  • 87.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCBL1 30 31
  • 86.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccbl1 30 31
  • 84.16 (n)
OneToOne
Kyat1 17
Rat
(Rattus norvegicus)
Mammalia Ccbl1 30
  • 82.21 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CCBL1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100859686 30
  • 67.06 (n)
CCBL1 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccbl1 30
  • 64.99 (n)
Str.5700 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23940 30
Zebrafish
(Danio rerio)
Actinopterygii ccbl1 31
  • 57 (a)
OneToOne
wufd11f02 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6950 31
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea nkat-3 31
  • 37 (a)
ManyToMany
nkat-1 31
  • 36 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL170C 30
  • 48.39 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA3 31 33
  • 31 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os10g0484700 30
  • 46.9 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
ManyToMany
CSA.3659 31
  • 44 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.9098 30
Species where no ortholog for KYAT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KYAT1 Gene

ENSEMBL:
Gene Tree for KYAT1 (if available)
TreeFam:
Gene Tree for KYAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KYAT1: view image

Paralogs for KYAT1 Gene

Paralogs for KYAT1 Gene

genes like me logo Genes that share paralogs with KYAT1: view

Variants for KYAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KYAT1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
782286 Benign: not provided 128,847,452(-) G/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for KYAT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KYAT1 Gene

Variant ID Type Subtype PubMed ID
esv1079251 CNV deletion 17803354
esv3621819 CNV gain 21293372
nsv1115233 CNV deletion 24896259
nsv6724 CNV insertion 18451855

Variation tolerance for KYAT1 Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KYAT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KYAT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KYAT1 Gene

Disorders for KYAT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KYAT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search KYAT1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with KYAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KYAT1 Gene

Publications for KYAT1 Gene

  1. Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase. (PMID: 7883047) Perry S … Goldfarb P (FEBS letters 1995) 2 3 4 23
  2. Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K. (PMID: 19338303) Han Q … Li J (Journal of medicinal chemistry 2009) 3 4 23
  3. Crystal structure of human kynurenine aminotransferase I. (PMID: 15364907) Rossi F … Rizzi M (The Journal of biological chemistry 2004) 3 4 23
  4. Substrate specificity of human glutamine transaminase K as an aminotransferase and as a cysteine S-conjugate beta-lyase. (PMID: 18342615) Cooper AJ … Spencer JP (Archives of biochemistry and biophysics 2008) 3 23
  5. Determination of kynurenic acid in human serum and its correlation with the concentration of certain amino acids. (PMID: 17112493) Fukushima T … Toyo'oka T (Clinica chimica acta; international journal of clinical chemistry 2007) 23 26

Products for KYAT1 Gene

Sources for KYAT1 Gene