KYAT3 kynurenine aminotransferase 3 [Homo sapiens (human)] - Gene

Summary

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

Location:: 1p22.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (88921044..88992960, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (88764436..88836357, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (89386727..89458643, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75110 (e-PCR)
- UniSTS:28679

SHGC-75112 (e-PCR)
- UniSTS:69922

A004S46 (e-PCR)
- UniSTS:70793

RH93455 (e-PCR)
- UniSTS:92375

GDB:631802 (e-PCR)
- UniSTS:158429

SHGC-35041 (e-PCR)
- UniSTS:56046

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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
located_in mitochondrion	HTP more info	PubMed
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

EC 2.6.1.63

EC 2.6.1.7

EC 4.4.1.13

NP_001008662.1

EC 2.6.1.63

EC 2.6.1.7

EC 4.4.1.13

NP_001336376.1

EC 2.6.1.63

EC 2.6.1.7

EC 4.4.1.13

NP_001336377.1

EC 2.6.1.63

EC 2.6.1.7

EC 4.4.1.13

NP_001336378.1

EC 2.6.1.63

EC 2.6.1.7

EC 4.4.1.13

NP_001336379.1

EC 2.6.1.63

EC 2.6.1.7

EC 4.4.1.13

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)

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
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
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
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
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
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

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
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
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