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

Summary

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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]

Genomic context

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Location :: 1q42-q44

Sequence :: Chromosome: 1; NC_000001.10 (241695434..241758949)

See KMO in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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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

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Pathways from BioSystems

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Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
NAD biosynthesis II (from tryptophan), organism-specific biosystem (from BIOCYC)
NAD biosynthesis II (from tryptophan), organism-specific biosystem
NAD biosynthesis II (from tryptophan)
NAD biosynthesis II (from tryptophan), conserved biosystem (from BIOCYC)
NAD biosynthesis II (from tryptophan), conserved biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotide phosphate (NADP) are two of the most important coenzymes in redox reac...
Selenium Pathway, organism-specific biosystem (from WikiPathways)
Selenium Pathway, organism-specific biosystem
Selenium Pathway
Tryptophan catabolism, organism-specific biosystem (from REACTOME)
Tryptophan catabolism, organism-specific biosystemTryptophan is catabolized in seven steps to yield aminomuconate. Intermedistes in this process are used as well for the synthesis of serotonin and kynurenine (Peters 1991).
Tryptophan metabolism, organism-specific biosystem (from KEGG)
Tryptophan metabolism, organism-specific biosystem
Tryptophan metabolism
Tryptophan metabolism, conserved biosystem (from KEGG)
Tryptophan metabolism, conserved biosystem
Tryptophan metabolism
tryptophan degradation III (eukaryotic), organism-specific biosystem (from BIOCYC)
tryptophan degradation III (eukaryotic), organism-specific biosystem
tryptophan degradation III (eukaryotic)
tryptophan degradation III (eukaryotic), conserved biosystem (from BIOCYC)
tryptophan degradation III (eukaryotic), conserved biosystemAerobic |FRAME:TRP| degradation, also known as the |FRAME: CPD-14736| pathway, is the major route of L-tryptophan degradation in mammals. This complex network of biochemical transformations generates...
tryptophan degradation XI (mammalian, via kynurenine), conserved biosystem (from BIOCYC)
tryptophan degradation XI (mammalian, via kynurenine), conserved biosystemGeneral Background In mammals |FRAME: TRP| is an essential amino acid that must be obtained in the diet. It is utilized in protein synthesis and in biosynthesis of the neurotransmitter |FRAME: SERO...
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde, organism-specific biosystem (from BIOCYC)
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde, organism-specific biosystemThis upstream portion of tryptophan degradation is found in many eukaryotes (including all metazoa) and some prokaryotes. The compound : 2-AMINO-3-3-OXOPROP-2-ENYL-BUT-2-ENEDI, at which this pathway ...
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde, conserved biosystem (from BIOCYC)
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde, conserved biosystemThis upstream portion of tryptophan degradation is found in many eukaryotes (iincluding all metazoa) and some prokaryotes. The compound |FRAME: 2-AMINO-3-3-OXOPROP-2-ENYL-BUT-2-ENEDI|, at which this ...

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

Homology

Homologs of the KMO gene: The KMO gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, E.gossypii, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NAD(P)H oxidase 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

Process	Evidence Code	Pubs
anthranilate metabolic process	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
de novo NAD biosynthetic process from tryptophan	IEA Inferred from Electronic Annotation more info
kynurenine metabolic process	IDA Inferred from Direct Assay more info	PubMed
quinolinate 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
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
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-monooxygenase; kynurenine 3-hydroxylase

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_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

COG0654
Location:7 – 361
Blast Score: 352

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

cl09931
Location:11 – 187
Blast Score: 113

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

241695434..241758949

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

212153669..212217265

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

248493784..248557273

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01033250.1 (95858..118213)	None
genomic	ABBA01033251.1	None
genomic	AL133390.7 (101..19821)	None
genomic	AL591898.1	None
genomic	AMYH01001875.1 (1445832..1509321)	None
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