KYAT1 kynurenine aminotransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KYAT1provided by HGNC
Official Full Name: kynurenine aminotransferase 1provided by HGNC
Primary source: HGNC:HGNC:1564
See related: Ensembl:ENSG00000171097 MIM:600547; AllianceGenome:HGNC:1564
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: GTK; KAT1; KATI; CCBL1
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 2.6), skin (RPKM 1.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128832942..128882523, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (141037719..141087270, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (131595221..131644802, complement)

Chromosome 9 - NC_000009.12 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
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?

genetic suppression of glutamine transaminase K (GTK), a key enzyme of the glutaminase II pathway, leads to the complete inhibition of pancreatic tumorigenesis in vivo unveiling GTK as a new metabolic target for cancer therapy
Title: Upregulation of the Glutaminase II Pathway Contributes to Glutamate Production upon Glutaminase 1 Inhibition in Pancreatic Cancer.
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.
CH(3)Hg-S-Cys and Cys-S-Hg-S-Cys are substrates and reversible inhibitors of GTK.
Title: New insights into the metabolism of organomercury compounds: mercury-containing cysteine S-conjugates are substrates of human glutamine transaminase K and potent inactivators of cystathionine γ-lyase.
alpha-keto acids generated by transamination/l-amino acid oxidase activity of the two catechol cysteine S-conjugates are unstable
Title: Substrate specificity of human glutamine transaminase K as an aminotransferase and as a cysteine S-conjugate beta-lyase.
We found elevated cerebellar KAT-1 activities in post-mortem brain samples from schizophrenic versus normal individuals.
Title: Preliminary evidence for a link between schizophrenia and NMDA-glycine site receptor ligand metabolic enzymes, d-amino acid oxidase (DAAO) and kynurenine aminotransferase-1 (KAT-1).
major biological roles of glutamine transaminase K are to maintain low levels of phenylpyruvate and to close the methionine salvage pathway--REVIEW
Title: The role of glutamine transaminase K (GTK) in sulfur and alpha-keto acid metabolism in the brain, and in the possible bioactivation of neurotoxicants.

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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
An atlas of genetic influences on human blood metabolites. 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

L18429 (e-PCR)
- UniSTS:14339

RH71294 (e-PCR)
- UniSTS:3629

L18426 (e-PCR)
- UniSTS:34648

SHGC-31452 (e-PCR)
- UniSTS:26715

WI-22794 (e-PCR)
- UniSTS:8031

RH93380 (e-PCR)
- UniSTS:85858

REN36776 (e-PCR)
- UniSTS:361576

MARC_8233-8234:996688438:1 (e-PCR)
- UniSTS:269938

D17S610 (e-PCR)
- UniSTS:46230

RH46270 (e-PCR)
- UniSTS:33177

Readthrough KYAT1-SPOUT1

Readthrough gene: KYAT1-SPOUT1, Included gene: SPOUT1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-S-conjugate beta-lyase activity	IDA Inferred from Direct Assay more info	PubMed
enables glutamine-phenylpyruvate transaminase activity	IEA Inferred from Electronic Annotation more info
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 protein binding	IPI Inferred from Physical Interaction 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 L-kynurenine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in kynurenine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement 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 1

Names: beta-lysase, kidney; cysteine conjugate beta lyase 1; cysteine conjugate-beta lyase, cytoplasmic; cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase); cysteine-S-conjugate beta-lyase; glutamine transaminase K; glutamine--phenylpyruvate transaminase; glutamine-phenylpyruvate aminotransferase; kyneurenine aminotransferase; kynurenine aminotransferase I; kynurenine--oxoglutarate transaminase I

NP_001116143.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001116144.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001274319.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339917.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339918.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339919.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339920.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339921.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339922.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339923.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339924.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339925.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339926.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339927.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_001339928.1

EC 2.6.1.64

EC 2.6.1.7

EC 4.4.1.13

NP_004050.3

EC 2.6.1.64

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_001122671.2 → NP_001116143.1 kynurenine--oxoglutarate transaminase 1 isoform a

See identical proteins and their annotated locations for NP_001116143.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 6-11 all encode the same isoform (a).

Source sequence(s)

AK291178, AL441992, BU622726, X82224

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001122672.2 → NP_001116144.1 kynurenine--oxoglutarate transaminase 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AL441992, BU622726, DA381449, EL733697, X82224

Consensus CDS

CCDS48038.1

UniProtKB/Swiss-Prot

Q16773

Related

ENSP00000317342.6, ENST00000320665.10

Conserved Domains (2) summary

cd00609
Location:31 → 367

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 ...

PRK08912
Location:24 → 368

PRK08912; hypothetical protein; Provisional
NM_001287390.3 → NP_001274319.1 kynurenine--oxoglutarate transaminase 1 isoform c

See identical proteins and their annotated locations for NP_001274319.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and CDS, and uses an alternate upstream translation start, compared to variant 1. The resulting protein (isoform c) has a longer N-terminus, compared to isoform a. Variants 4 and 12 both encode the same isoform (c).

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS75915.1

UniProtKB/TrEMBL

B7Z4W5

Related

ENSP00000399415.2, ENST00000436267.7

Conserved Domains (1) summary

cl27741
Location:118 → 512

Aminotran_1_2; Aminotransferase class I and II
NM_001352988.2 → NP_001339917.1 kynurenine--oxoglutarate transaminase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 1, 2, and 7-11, encodes isoform a.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001352989.2 → NP_001339918.1 kynurenine--oxoglutarate transaminase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variants 1, 2, 6, and 8-11, encodes isoform a.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001352990.2 → NP_001339919.1 kynurenine--oxoglutarate transaminase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 1, 2, 6, 7, and 9-11, encodes isoform a.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001352991.2 → NP_001339920.1 kynurenine--oxoglutarate transaminase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 1, 2, 6-8, 10, and 11, encodes isoform a.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001352992.2 → NP_001339921.1 kynurenine--oxoglutarate transaminase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 1, 2, 6-9, and 11, encodes isoform a.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001352993.2 → NP_001339922.1 kynurenine--oxoglutarate transaminase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 1, 2, and 6-10, encodes isoform a.

Source sequence(s)

AL441992

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase
NM_001352994.2 → NP_001339923.1 kynurenine--oxoglutarate transaminase 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variant 4, encodes isoform c.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS75915.1

UniProtKB/TrEMBL

B7Z4W5

Conserved Domains (1) summary

cl27741
Location:118 → 512

Aminotran_1_2; Aminotransferase class I and II
NM_001352995.2 → NP_001339924.1 kynurenine--oxoglutarate transaminase 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variant 14, encodes isoform d.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS94502.1

UniProtKB/TrEMBL

A0A494C066

Conserved Domains (1) summary

cl27741
Location:117 → 511

Aminotran_1_2; Aminotransferase class I and II
NM_001352996.2 → NP_001339925.1 kynurenine--oxoglutarate transaminase 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variant 13, encodes isoform d.

Source sequence(s)

AL441992, AL672142

Consensus CDS

CCDS94502.1

UniProtKB/TrEMBL

A0A494C066

Conserved Domains (1) summary

cl27741
Location:117 → 511

Aminotran_1_2; Aminotransferase class I and II
NM_001352997.2 → NP_001339926.1 kynurenine--oxoglutarate transaminase 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variant 16, encodes isoform e.

Source sequence(s)

AL441992, AL672142

Conserved Domains (1) summary

cl27741
Location:58 → 452

Aminotran_1_2; Aminotransferase class I and II
NM_001352998.2 → NP_001339927.1 kynurenine--oxoglutarate transaminase 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variant 15, encodes isoform e.

Source sequence(s)

AL441992, AL672142

Conserved Domains (1) summary

cl27741
Location:58 → 452

Aminotran_1_2; Aminotransferase class I and II
NM_001352999.2 → NP_001339928.1 kynurenine--oxoglutarate transaminase 1 isoform f

Status: REVIEWED

Source sequence(s)

AL441992, AL672142

Conserved Domains (1) summary

cl27741
Location:3 → 360

Aminotran_1_2; Aminotransferase class I and II
NM_004059.5 → NP_004050.3 kynurenine--oxoglutarate transaminase 1 isoform a

See identical proteins and their annotated locations for NP_004050.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the isoform a. Variants 1, 2, and 6-11 all encode the same isoform (a).

Source sequence(s)

AL441992, BI755163, DA381449, X82224

Consensus CDS

CCDS43884.1

UniProtKB/Swiss-Prot

Q16773, Q5T275, Q8N191

UniProtKB/TrEMBL

A8K563

Related

ENSP00000302227.3, ENST00000302586.8

Conserved Domains (1) summary

PRK08912
Location:24 → 418

PRK08912; aminotransferase

RNA

NR_109829.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site at an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL441992, AL672142

Related

ENST00000462722.5
NR_148224.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL441992, AL672142
NR_148225.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL441992

Related

ENST00000483599.5