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

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Summary

Official Symbol: KMOprovided by HGNC
Official Full Name: kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)provided by HGNC
Primary source: HGNC:6381
Locus tag: RP1-317G22.1
See related: Ensembl:ENSG00000117009; HPRD:04642; MIM:603538; Vega:OTTHUMG00000039635
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]

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Genomic context

Location :: 1q42-q44

Sequence :: Chromosome: 1; NC_000001.10 (241695680..241758944)

See KMO in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

analyzed association between KMO gene polymorphisms and CSF concentrations of kynurenic acid in patients with schizophrenia and controls. results suggest that the nonsynonymous KMO SNP rs1053230 influences CSF concentrations of KYNA.
Title: Kynurenine 3-monooxygenase polymorphisms: relevance for kynurenic acid synthesis in patients with schizophrenia and healthy controls.
significant and correlated reduction in gene expression and enzyme activity in the frontal eye field in schizophrenia patients; rs2275163 has modest effects on predictive pursuit and visuospatial working memory endophenotypes
Title: Downregulated kynurenine 3-monooxygenase gene expression and enzyme activity in schizophrenia and genetic association with schizophrenia endophenotypes.
The present analysis of the combined Scandinavian sample did not reveal any allele frequency difference between patients and healthy controls
Title: Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: an association study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: an association study.
the function KMO AND indoleamine 2,3-dioxygenase may change from a role in immunosuppression at the maternal-fetal interface in early pregnancy, to one associated with regulation of fetoplacental blood flow or placental metabolism in late gestation
Title: Localisation of indoleamine 2,3-dioxygenase and kynurenine hydroxylase in the human placenta and decidua: implications for role of the kynurenine pathway in pregnancy.
Results suggest that kynurenine 3-monooxygenase is unlikely to be related to the development of schizophrenia in Japanese.
Title: Association study between kynurenine 3-monooxygenase gene and schizophrenia in the Japanese population.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
NAD(P)H oxidase activity	IDA Inferred from Direct Assay more info	PubMed
electron carrier activity	IDA Inferred from Direct Assay more info	PubMed
flavin adenine dinucleotide binding	IDA Inferred from Direct Assay more info	PubMed
kynurenine 3-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
monooxygenase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
NAD metabolic process	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
kynurenine metabolic process	IDA Inferred from Direct Assay more info	PubMed
pyridine nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
response to salt stress	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
tryptophan catabolic process	TAS Traceable Author Statement more info
tryptophan catabolic process to kynurenine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: kynurenine 3-monooxygenase

Names: kynurenine 3-monooxygenase; kynurenine 3-hydroxylase

NP_003670.2

EC 1.14.13.9

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NCBI Reference Sequences (RefSeq)

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_003679.4 → NP_003670.2 kynurenine 3-monooxygenase

Status: REVIEWED

Source sequence(s)

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

Consensus CDS

CCDS1618.1

UniProtKB/TrEMBL

A8K693

UniProtKB/Swiss-Prot

O15229

Related

ENSP00000355517, OTTHUMP00000037618, ENST00000366559, OTTHUMT00000095612

Conserved Domains (2) summary

PRK08849
Location:294 – 353
Blast Score: 125

PRK08849; 2-octaprenyl-3-methyl-6-methoxy-1,4-benzoquinol hydroxylase; Provisional

cl09931
Location:11 – 187
Blast Score: 113

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

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

241695680..241758944

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

212153915..212217260

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL133390.7	CAM28228.1
genomic	AL591898.1	CAI13903.1
		CAI13905.1
		CAI13906.1
		CAI13907.1
genomic	AL591898.1	CAI13903.1
		CAI13905.1
		CAI13906.1
		CAI13907.1
genomic	CH471098.1	EAW70094.1
		EAW70095.1
		EAW70096.1
mRNA	AF056032.1	AAC62615.1
mRNA	AI262990.1	None
mRNA	AK291558.1	BAF84247.1
mRNA	AK310937.1	None
mRNA	AU137977.1	None
mRNA	BC005297.1	AAH05297.1
mRNA	BP276365.1	None
mRNA	CB989076.1	None
mRNA	DB373228.1	None
mRNA	Y13153.1	CAA73613.1