KMO kynurenine 3-monooxygenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: KMOprovided by HGNC
Official Full Name: kynurenine 3-monooxygenaseprovided by HGNC
Primary source: HGNC:HGNC:6381
See related: Ensembl:ENSG00000117009 MIM:603538; AllianceGenome:HGNC:6381
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: dJ317G22.1
Summary: This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]
Expression: Broad expression in liver (RPKM 11.5), kidney (RPKM 9.8) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q43

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (241532378..241595642)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (240943769..241007043)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (241695678..241758944)

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
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?

The Kynurenine Pathway and Kynurenine 3-Monooxygenase Inhibitors.
Title: The Kynurenine Pathway and Kynurenine 3-Monooxygenase Inhibitors.
Kynurenine Monooxygenase Expression and Activity in Human Astrocytomas.
Title: Kynurenine Monooxygenase Expression and Activity in Human Astrocytomas.
Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion.
Title: Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion.
Kynurenine 3-monooxygenase upregulates pluripotent genes through beta-catenin and promotes triple-negative breast cancer progression.
Title: Kynurenine 3-monooxygenase upregulates pluripotent genes through β-catenin and promotes triple-negative breast cancer progression.
A novel role for kynurenine 3-monooxygenase in mitochondrial dynamics.
Title: A novel role for kynurenine 3-monooxygenase in mitochondrial dynamics.
There is the association between the rs1053230 polymorphism and depression.
Title: [A study of the association between the kynurenine-3-monooxygenase gene and depression].
results show the incidence of Postpartum Depression in the Chinese population to be 7.3%, with PDS characterized by increased serum 3-HydroxyKinurenine concentration and 3-HK/Kynurenine ratio, versus matched postpartum women without PDS. Furthermore, polymorphisms of Kynurenine Monooxygenase rs1053230 are significantly associated with the incidence of PDS.
Title: Genetic variants of the kynurenine-3-monooxygenase and postpartum depressive symptoms after cesarean section in Chinese women.
Our data establish the candidacy of KMO as a causal factor for changes in the kidney leading to proteinuria and indicate a functional role for KMO and metabolites of the tryptophan pathway in podocytes
Title: Loss of Kynurenine 3-Mono-oxygenase Causes Proteinuria.
A comprehensive review of the molecular properties of KMO, including its kinetics, reaction mechanism, and inhibitor structure-activity relationship (SAR), is not currently available and, thus, is our focus here
Title: Kynurenine-3-monooxygenase: a review of structure, mechanism, and inhibitors.
SiRNA knockdown of the pathway components Kynurenine 3-monooxygenase and quinolinate phosphoribosyl transferase caused cells to revert to a state of susceptibility to 3HK-mediated apoptosis.
Title: Overexpression of human kynurenine-3-monooxygenase protects against 3-hydroxykynurenine-mediated apoptosis through bidirectional nonlinear feedback.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

A007K45 (e-PCR)
- UniSTS:2583

SHGC-58108 (e-PCR)
- UniSTS:45862

SHGC-76600 (e-PCR)
- UniSTS:3131

D1S3521 (e-PCR)
- UniSTS:72259

SHGC-76603 (e-PCR)
- UniSTS:53590

D1S3591 (e-PCR)
- UniSTS:64342

SHGC-105324 (e-PCR)
- UniSTS:169307

SHGC-34194 (e-PCR)
- UniSTS:12922

SHGC-76597 (e-PCR)
- UniSTS:68281

D1S547 (e-PCR), detects polymorphism
- UniSTS:37857

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FAD binding	IDA Inferred from Direct Assay more info	PubMed
enables NAD(P)H oxidase H2O2-forming activity	IDA Inferred from Direct Assay more info	PubMed
enables flavin adenine dinucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables kynurenine 3-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables kynurenine 3-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables kynurenine 3-monooxygenase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in 'de novo' NAD biosynthetic process from tryptophan	IEA Inferred from Electronic Annotation more info
involved_in L-kynurenine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in NAD metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in anthranilate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in kynurenic acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in kynurenine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in kynurenine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glutamate secretion, neurotransmission	IEA Inferred from Electronic Annotation more info
involved_in quinolinate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to salt stress	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: kynurenine 3-monooxygenase

Names: kynurenine 3-hydroxylase

NP_001397873.1

EC 1.14.13.9

NP_003670.2

EC 1.14.13.9

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_001410944.1 → NP_001397873.1 kynurenine 3-monooxygenase isoform 2

Status: REVIEWED

Source sequence(s)

AL133390, FO393423

Consensus CDS

CCDS91182.1

Related

ENSP00000355516.3, ENST00000366558.7
NM_003679.5 → NP_003670.2 kynurenine 3-monooxygenase isoform 1

See identical proteins and their annotated locations for NP_003670.2

Status: REVIEWED

Source sequence(s)

AF056032, AI262990, AK291558, AL133390, AU137977, CB989076, DB373228, Y13153

Consensus CDS

CCDS1618.1

UniProtKB/Swiss-Prot

A2A2U8, A2A2U9, A2A2V0, O15229, Q5SY07, Q5SY08, Q5SY09

UniProtKB/TrEMBL

A8K693

Related

ENSP00000355517.4, ENST00000366559.9

Conserved Domains (2) summary

COG0654
Location:8 → 361

UbiH; 2-polyprenyl-6-methoxyphenol hydroxylase and related FAD-dependent oxidoreductases [Coenzyme transport and metabolism, Energy production and conversion]

cl21454
Location:11 → 330

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins