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FMO3 P153L [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5602837
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Dimethylaniline monooxygenase (N-oxide forming) 3, Hepatic flavin-containing monooxygenase 3, Dimethylaniline oxidase 3, FMO form 2, FMO II
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective FMO3 causes TMAU (Homo sapiens)
Defective FMO3 does not N-oxidise TMA (Homo sapiens)
FMO3 mutants:FAD [endoplasmic reticulum membrane] (Homo sapiens)
FMO3 mutants [endoplasmic reticulum membrane] (Homo sapiens)
FMO3 P153L [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P31513 FMO3
Gene Names
FMO3
Chain
initiator methionine:, chain:2-532
Reference Genes
BioGPS Gene:2328 FMO3
COSMIC (genes):FMO3 FMO3
CTD Gene:2328 FMO3
dbSNP Gene:2328 FMO3
ENSEMBL:ENSG00000007933 FMO3
HGNC:3771 FMO3
Monarch:2328 FMO3
NCBI Gene:2328 FMO3
OMIM:136132 FMO3
UCSC:P31513 FMO3
Reference Transcript
RefSeq:NM_001319173.1 FMO3
RefSeq:NM_006894.5 FMO3
RefSeq:NM_001319174.1 FMO3
RefSeq:NM_001002294.2 FMO3
Other Identifiers
11726051_a_at
11760670_x_at
16673682
206496_3p_at
206496_PM_at
206496_at
2328
2366942
2366943
2366944
2366945
2366948
2366949
2366950
2366951
2366952
2366954
2366955
2366956
2366958
2366961
2366962
2366964
2366965
2366966
2366967
40665_3p_at
40665_PM_at
40665_at
4859786_3p_at
7907249
A_23_P155596
A_23_P155601
GE58109
GO:0003824
GO:0004497
GO:0004499
GO:0005515
GO:0005783
GO:0005789
GO:0006790
GO:0016020
GO:0016491
GO:0034899
GO:0042412
GO:0043226
GO:0043231
GO:0047638
GO:0047822
GO:0050660
GO:0050661
HMNXSV003003173
HMNXSV003031064
ILMN_1808657
ILMN_2344283
M83772_at
PH_hs_0031359
TC01001486.hg
g6325466_3p_at
g6325466_3p_s_at
Participates
as a member of
FMO3 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
FMO3 M66I [endoplasmic reticulum membrane]
FMO3 E32K [endoplasmic reticulum membrane]
FMO3 R492W [endoplasmic reticulum membrane]
FMO3 N61S [endoplasmic reticulum membrane]
FMO3 [endoplasmic reticulum membrane]
Modified Residues
Name
L-proline 153 replaced with L-leucine
Coordinate
153
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name
Identifier
Synonyms
inherited metabolic disorder
DOID:655
Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
ENSEMBL
ENST00000367755
,
ENSP00000356729
OpenTargets
ENSG00000007933
IntEnz
1.14.13.32
,
1.14.13.148
HPA
ENSG00000007933-FMO3
PRO
P31513
Pharos - Targets
P31513
Orphanet
FMO3
HMDB Protein
HMDBP00171
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8IUN9 CLEC10A
1
CLEC10A [plasma membrane]
(R-HSA-1472863)
0.556
3
UniProt:Q9NTJ5 SACM1L
2
SACM1L [endoplasmic reticulum membrane]
(R-HSA-1604637)
SACM1L [Golgi membrane]
(R-HSA-1806242)
0.556
3
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