KMO (kynurenine 3-monooxygenase) - Rat Genome Database

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Gene: KMO (kynurenine 3-monooxygenase) Homo sapiens
Analyze
Symbol: KMO
Name: kynurenine 3-monooxygenase
RGD ID: 737300
HGNC Page HGNC:6381
Description: Enables FAD binding activity; NAD(P)H oxidase H2O2-forming activity; and kynurenine 3-monooxygenase activity. Involved in NAD metabolic process; kynurenine metabolic process; and response to salt stress. Predicted to be located in cytosol. Predicted to be active in mitochondrial outer membrane. Biomarker of schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dJ317G22.1; kynurenine 3-hydroxylase; kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,532,378 - 241,595,642 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1241,532,134 - 241,595,642 (+)EnsemblGRCh38hg38GRCh38
GRCh371241,695,678 - 241,758,944 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,762,330 - 239,825,566 (+)NCBINCBI36hg18NCBI36
Build 341238,021,747 - 238,084,984NCBI
Celera1214,950,683 - 215,013,947 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1212,153,669 - 212,217,265 (+)NCBIHuRef
CHM1_11242,968,145 - 243,031,623 (+)NCBICHM1_1
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-hydroxykynurenine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxytryptamine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bosentan  (EXP)
buta-1,3-diene  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dexamethasone  (EXP)
dimethoate  (ISO)
dimethylarsinic acid  (ISO)
endosulfan  (ISO)
fipronil  (ISO)
flutamide  (ISO)
GW 4064  (ISO)
indometacin  (EXP)
kynurenic acid  (ISO)
kynurenine  (ISO)
Lasiocarpine  (EXP)
lidocaine  (ISO)
methylarsonic acid  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
Ro 61-8048  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Cloning and functional expression of human kynurenine 3-monooxygenase. Alberati-Giani D, etal., FEBS Lett 1997 Jun 30;410(2-3):407-12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The kynurenine pathway and neurodegenerative disease. Maddison DC and Giorgini F, Semin Cell Dev Biol. 2015 Apr;40:134-41. doi: 10.1016/j.semcdb.2015.03.002. Epub 2015 Mar 12.
4. Kynurenine-3-monooxygenase inhibition prevents multiple organ failure in rodent models of acute pancreatitis. Mole DJ, etal., Nat Med. 2016 Feb;22(2):202-9. doi: 10.1038/nm.4020. Epub 2016 Jan 11.
5. Enzymatic studies on tryptophan metabolism disorder in rats chronically exposed to carbon disulfide. Okayama A, etal., Toxicol Appl Pharmacol. 1988 Jul;94(3):356-61.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Pharmacological kynurenine 3-monooxygenase enzyme inhibition significantly reduces neuropathic pain in a rat model. Rojewska E, etal., Neuropharmacology. 2016 Mar;102:80-91. doi: 10.1016/j.neuropharm.2015.10.040. Epub 2015 Oct 31.
11. The inhibition of the kynurenine pathway prevents behavioral disturbances and oxidative stress in the brain of adult rats subjected to an animal model of schizophrenia. RĂ©us GZ, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2018 Feb 2;81:55-63. doi: 10.1016/j.pnpbp.2017.10.009. Epub 2017 Oct 13.
12. Impaired kynurenine pathway metabolism in the prefrontal cortex of individuals with schizophrenia. Sathyasaikumar KV, etal., Schizophr Bull. 2011 Nov;37(6):1147-56. doi: 10.1093/schbul/sbq112. Epub 2010 Oct 29.
13. Kynurenine-3-monooxygenase: a review of structure, mechanism, and inhibitors. Smith JR, etal., Drug Discov Today. 2016 Feb;21(2):315-24. doi: 10.1016/j.drudis.2015.11.001. Epub 2015 Nov 14.
14. Kynurenine metabolism in vitamin-B-6-deficient rat liver after tryptophan injection. Takeuchi F and Shibata Y, Biochem J. 1984 Jun 15;220(3):693-9.
15. Development of a Series of Kynurenine 3-Monooxygenase Inhibitors Leading to a Clinical Candidate for the Treatment of Acute Pancreatitis. Walker AL, etal., J Med Chem. 2017 Apr 27;60(8):3383-3404. doi: 10.1021/acs.jmedchem.7b00055. Epub 2017 Apr 11.
16. Regulation of the kynurenine metabolism pathway by Xiaoyao San and the underlying effect in the hippocampus of the depressed rat. Wang J, etal., J Ethnopharmacol. 2018 Mar 25;214:13-21. doi: 10.1016/j.jep.2017.11.037. Epub 2017 Dec 5.
Additional References at PubMed
PMID:10672018   PMID:11401433   PMID:12402501   PMID:12477932   PMID:14704851   PMID:15342556   PMID:15950064   PMID:16344560   PMID:16710414   PMID:16716206   PMID:19626040   PMID:21030213  
PMID:21693093   PMID:21727251   PMID:21873635   PMID:23251661   PMID:23376485   PMID:23459468   PMID:23575632   PMID:24316190   PMID:25464917   PMID:25715464   PMID:26099564   PMID:27020856  
PMID:27077813   PMID:27503909   PMID:28139632   PMID:28319697   PMID:28514442   PMID:29208702   PMID:29429898   PMID:29961565   PMID:32268268   PMID:32390008   PMID:33170836   PMID:33961781  
PMID:34440798   PMID:35011505  


Genomics

Comparative Map Data
KMO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,532,378 - 241,595,642 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1241,532,134 - 241,595,642 (+)EnsemblGRCh38hg38GRCh38
GRCh371241,695,678 - 241,758,944 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,762,330 - 239,825,566 (+)NCBINCBI36hg18NCBI36
Build 341238,021,747 - 238,084,984NCBI
Celera1214,950,683 - 215,013,947 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1212,153,669 - 212,217,265 (+)NCBIHuRef
CHM1_11242,968,145 - 243,031,623 (+)NCBICHM1_1
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBI
Kmo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,459,759 - 175,488,419 (+)NCBIGRCm39mm39
GRCm39 Ensembl1175,447,947 - 175,489,682 (+)Ensembl
GRCm381175,632,193 - 175,660,853 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,620,381 - 175,662,116 (+)EnsemblGRCm38mm10GRCm38
MGSCv371177,562,324 - 177,590,984 (+)NCBIGRCm37mm9NCBIm37
MGSCv361177,468,868 - 177,497,528 (+)NCBImm8
Celera1182,717,886 - 182,746,514 (+)NCBICelera
Cytogenetic Map1H3NCBI
Kmo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21387,557,080 - 87,589,334 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1387,557,286 - 87,588,881 (+)Ensembl
Rnor_6.01393,684,324 - 93,715,378 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1393,684,437 - 93,716,227 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01398,149,340 - 98,180,255 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,363,517 - 91,394,174 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11391,552,400 - 91,583,055 (+)NCBI
Celera1387,155,915 - 87,185,730 (+)NCBICelera
Cytogenetic Map13q25NCBI
Kmo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540610,493,379 - 10,527,201 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540610,496,102 - 10,527,181 (-)NCBIChiLan1.0ChiLan1.0
KMO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11222,075,577 - 222,138,866 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,075,268 - 222,138,866 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01217,094,037 - 217,157,827 (+)NCBIMhudiblu_PPA_v0panPan3
KMO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1732,941,487 - 32,994,541 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl732,941,487 - 32,994,541 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha732,419,026 - 32,472,013 (+)NCBI
ROS_Cfam_1.0732,767,900 - 32,821,021 (+)NCBI
ROS_Cfam_1.0 Ensembl732,767,900 - 32,821,021 (+)Ensembl
UMICH_Zoey_3.1732,602,997 - 32,656,010 (+)NCBI
UNSW_CanFamBas_1.0732,627,134 - 32,680,135 (+)NCBI
UU_Cfam_GSD_1.0732,875,278 - 32,928,138 (+)NCBI
Kmo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934445,818,797 - 45,870,212 (+)NCBI
SpeTri2.0NW_0049365268,877,085 - 8,928,280 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KMO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1012,434,769 - 12,490,409 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11012,442,877 - 12,489,417 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21014,879,142 - 14,937,353 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KMO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,611,194 - 78,670,314 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,628,757 - 78,670,181 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605580,745,055 - 80,803,000 (+)NCBIVero_WHO_p1.0
Kmo
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477111,899,624 - 11,942,806 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462477111,900,020 - 11,942,943 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D1S547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,755,937 - 241,756,221UniSTSGRCh37
Build 361239,822,560 - 239,822,844RGDNCBI36
Celera1215,010,922 - 215,011,224RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,214,235 - 212,214,537UniSTS
Marshfield Genetic Map1267.51UniSTS
Marshfield Genetic Map1267.51RGD
deCODE Assembly Map1259.16UniSTS
Whitehead-RH Map1932.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11965.8UniSTS
A007K45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,755,297 - 241,755,561UniSTSGRCh37
Build 361239,821,920 - 239,822,184RGDNCBI36
Celera1215,010,282 - 215,010,546RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,213,595 - 212,213,859UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11966.1UniSTS
SHGC-76600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,984 - 241,757,171UniSTSGRCh37
Build 361239,823,607 - 239,823,794RGDNCBI36
Celera1215,011,987 - 215,012,174RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,215,300 - 212,215,487UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS
D1S3521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,728,694 - 241,728,842UniSTSGRCh37
Build 361239,795,317 - 239,795,465RGDNCBI36
Celera1214,983,683 - 214,983,831RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,187,000 - 212,187,148UniSTS
TNG Radiation Hybrid Map1122208.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS
SHGC-105324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,696,458 - 241,696,746UniSTSGRCh37
Build 361239,763,081 - 239,763,369RGDNCBI36
Celera1214,951,461 - 214,951,749RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,154,693 - 212,154,981UniSTS
TNG Radiation Hybrid Map1122196.0UniSTS
SHGC-34194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,755,440 - 241,755,566UniSTSGRCh37
Build 361239,822,063 - 239,822,189RGDNCBI36
Celera1215,010,425 - 215,010,551RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,213,738 - 212,213,864UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
GeneMap99-GB4 RH Map1753.76UniSTS
Whitehead-RH Map1922.8UniSTS
GeneMap99-G3 RH Map19354.0UniSTS
SHGC-58108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,751,262 - 241,751,428UniSTSGRCh37
Build 361239,817,885 - 239,818,051RGDNCBI36
Celera1215,006,251 - 215,006,417RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,209,570 - 212,209,736UniSTS
TNG Radiation Hybrid Map1122246.0UniSTS
SHGC-76603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,959 - 241,757,182UniSTSGRCh37
Build 361239,823,582 - 239,823,805RGDNCBI36
Celera1215,011,962 - 215,012,185RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,215,275 - 212,215,498UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
D1S3591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,534 - 241,756,668UniSTSGRCh37
Build 361239,823,157 - 239,823,291RGDNCBI36
Celera1215,011,537 - 215,011,671RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,214,850 - 212,214,984UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1752.34UniSTS
NCBI RH Map11969.9UniSTS
SHGC-76597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,758,779 - 241,758,908UniSTSGRCh37
Build 361239,825,402 - 239,825,531RGDNCBI36
Celera1215,013,782 - 215,013,911RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,217,095 - 212,217,224UniSTS
TNG Radiation Hybrid Map1122242.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1921.2UniSTS
NCBI RH Map11965.8UniSTS
KMO__6342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,758,184 - 241,759,045UniSTSGRCh37
Build 361239,824,807 - 239,825,668RGDNCBI36
Celera1215,013,187 - 215,014,048RGD
HuRef1212,216,500 - 212,217,361UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3202
Count of miRNA genes:1055
Interacting mature miRNAs:1250
Transcripts:ENST00000366555, ENST00000366557, ENST00000366558, ENST00000366559, ENST00000431245, ENST00000477907, ENST00000480967, ENST00000481087, ENST00000484229, ENST00000484628
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2 1 260 260 165 260 1 14 2 93 9 7 1 1 1
Low 335 608 428 201 1269 176 552 27 751 223 504 839 31 483 255 1
Below cutoff 2027 2235 1020 154 485 22 3374 1813 2846 94 889 693 138 715 2198 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF056032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI262990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU137977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP276365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB989076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB373228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366555   ⟹   ENSP00000355513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,568,635 - 241,593,459 (+)Ensembl
RefSeq Acc Id: ENST00000366557   ⟹   ENSP00000355515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,405 - 241,595,642 (+)Ensembl
RefSeq Acc Id: ENST00000366558   ⟹   ENSP00000355516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,134 - 241,592,288 (+)Ensembl
RefSeq Acc Id: ENST00000366559   ⟹   ENSP00000355517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,378 - 241,595,642 (+)Ensembl
RefSeq Acc Id: ENST00000431245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,562,053 - 241,586,736 (+)Ensembl
RefSeq Acc Id: ENST00000477907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,401 - 241,566,575 (+)Ensembl
RefSeq Acc Id: ENST00000480967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,369 - 241,562,283 (+)Ensembl
RefSeq Acc Id: ENST00000481087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,549,662 - 241,555,801 (+)Ensembl
RefSeq Acc Id: ENST00000484229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,379 - 241,550,087 (+)Ensembl
RefSeq Acc Id: ENST00000484628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,532,338 - 241,562,264 (+)Ensembl
RefSeq Acc Id: NM_003679   ⟹   NP_003670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,378 - 241,595,642 (+)NCBI
GRCh371241,695,324 - 241,758,949 (+)NCBI
Build 361239,762,330 - 239,825,566 (+)NCBI Archive
Celera1214,950,683 - 215,013,947 (+)RGD
HuRef1212,153,669 - 212,217,265 (+)NCBI
CHM1_11242,968,145 - 243,031,623 (+)NCBI
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273337   ⟹   XP_005273394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,378 - 241,595,642 (+)NCBI
GRCh371241,695,324 - 241,758,949 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003670   ⟸   NM_003679
- UniProtKB: O15229 (UniProtKB/Swiss-Prot),   A8K693 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273394   ⟸   XM_005273337
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000355517   ⟸   ENST00000366559
RefSeq Acc Id: ENSP00000355513   ⟸   ENST00000366555
RefSeq Acc Id: ENSP00000355515   ⟸   ENST00000366557
RefSeq Acc Id: ENSP00000355516   ⟸   ENST00000366558
Protein Domains
FAD_binding_3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15229-F1-model_v2 AlphaFold O15229 1-486 view protein structure

Promoters
RGD ID:6785906
Promoter ID:HG_KWN:8058
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000366557,   ENST00000366558,   NM_003679,   UC001HYY.2,   UC009XGO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,761,771 - 239,762,282 (+)MPROMDB
RGD ID:6859396
Promoter ID:EPDNEW_H2863
Type:initiation region
Name:KMO_1
Description:kynurenine 3-monooxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2864  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,134 - 241,532,194EPDNEW
RGD ID:6859398
Promoter ID:EPDNEW_H2864
Type:multiple initiation site
Name:KMO_2
Description:kynurenine 3-monooxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2863  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,379 - 241,532,439EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:241358731-241676967)x3 copy number gain See cases [RCV000051589] Chr1:241358731..241676967 [GRCh38]
Chr1:241522031..241840269 [GRCh37]
Chr1:239588654..239906892 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44
pathogenic
NM_014322.2(OPN3):c.1198C>T (p.Arg400Cys) single nucleotide variant Malignant melanoma [RCV000064611] Chr1:241594439 [GRCh38]
Chr1:241757741 [GRCh37]
Chr1:239824364 [NCBI36]
Chr1:1q43
not provided
NM_003679.4(KMO):c.958-6412A>G single nucleotide variant Lung cancer [RCV000090702] Chr1:241580267 [GRCh38]
Chr1:241743569 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43(chr1:241646582-241711701)x3 copy number gain not provided [RCV000749412] Chr1:241646582..241711701 [GRCh37]
Chr1:1q43
benign
NM_003679.5(KMO):c.786G>A (p.Pro262=) single nucleotide variant not provided [RCV000951054] Chr1:241566589 [GRCh38]
Chr1:241729889 [GRCh37]
Chr1:1q43
benign
NC_000001.10:g.(?_241661128)_(242034263_?)dup duplication Fumarase deficiency [RCV001033301] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_241661128)_(242034263_?)del deletion Fumarase deficiency [RCV001032378] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
pathogenic
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43
pathogenic
NM_003679.5(KMO):c.785C>T (p.Pro262Leu) single nucleotide variant not provided [RCV000920875] Chr1:241566588 [GRCh38]
Chr1:241729888 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43(chr1:241499877-241885359)x3 copy number gain not provided [RCV000848301] Chr1:241499877..241885359 [GRCh37]
Chr1:1q43
uncertain significance
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43(chr1:241661303-241752434)x3 copy number gain not provided [RCV000846197] Chr1:241661303..241752434 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:241106058-242088336)x3 copy number gain not provided [RCV000847311] Chr1:241106058..242088336 [GRCh37]
Chr1:1q43
uncertain significance
NM_003679.5(KMO):c.598C>T (p.Pro200Ser) single nucleotide variant not provided [RCV000894979] Chr1:241562315 [GRCh38]
Chr1:241725615 [GRCh37]
Chr1:1q43
benign
NM_003679.5(KMO):c.957+9T>A single nucleotide variant not provided [RCV000953235] Chr1:241568656 [GRCh38]
Chr1:241731956 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43(chr1:241680265-241929583)x3 copy number gain not provided [RCV001005200] Chr1:241680265..241929583 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q43(chr1:241496526-241885359)x3 copy number gain not provided [RCV001259121] Chr1:241496526..241885359 [GRCh37]
Chr1:1q43
likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain not provided [RCV001829254] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:241180373-242090901) copy number gain not specified [RCV002052989] Chr1:241180373..242090901 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001992552] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6381 AgrOrtholog
COSMIC KMO COSMIC
Ensembl Genes ENSG00000117009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355513.5 UniProtKB/TrEMBL
  ENSP00000355515.4 UniProtKB/Swiss-Prot
  ENSP00000355516 ENTREZGENE
  ENSP00000355516.3 UniProtKB/Swiss-Prot
  ENSP00000355517 ENTREZGENE
  ENSP00000355517.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366555.5 UniProtKB/TrEMBL
  ENST00000366557.8 UniProtKB/Swiss-Prot
  ENST00000366558 ENTREZGENE
  ENST00000366558.7 UniProtKB/Swiss-Prot
  ENST00000366559 ENTREZGENE
  ENST00000366559.9 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117009 GTEx
HGNC ID HGNC:6381 ENTREZGENE
Human Proteome Map KMO Human Proteome Map
InterPro FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kynurenine_monooxygenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8564 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8564 ENTREZGENE
OMIM 603538 OMIM
Pfam FAD_binding_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30172 PharmGKB
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K693 ENTREZGENE, UniProtKB/TrEMBL
  H0Y320_HUMAN UniProtKB/TrEMBL
  KMO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BS61_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2A2U8 UniProtKB/Swiss-Prot
  A2A2U9 UniProtKB/Swiss-Prot
  A2A2V0 UniProtKB/Swiss-Prot
  Q5SY07 UniProtKB/Swiss-Prot
  Q5SY08 UniProtKB/Swiss-Prot
  Q5SY09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 KMO  kynurenine 3-monooxygenase    kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)  Symbol and/or name change 5135510 APPROVED