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LFNG F188L [Golgi membrane]
Stable Identifier
R-HSA-5137535
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, Lunatic fringe
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective LFNG causes SCDO3 (Homo sapiens)
Defective LFNG does not transfer GlcNAc to Pre-NOTCH (Homo sapiens)
LFNG F188L [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8NES3 LFNG
Gene Names
LFNG
Chain
chain:1-379
Reference Genes
BioGPS Gene:3955 LFNG
COSMIC (genes):LFNG LFNG
CTD Gene:3955 LFNG
dbSNP Gene:3955 LFNG
ENSEMBL:ENSG00000106003 LFNG
HGNC:6560 LFNG
KEGG:hsa:3955 LFNG
Monarch:3955 LFNG
NCBI Gene:3955 LFNG
OMIM:602576 LFNG
UCSC:Q8NES3 LFNG
Reference Transcript
RefSeq:NM_002304.2 LFNG
RefSeq:NM_001166355.1 LFNG
RefSeq:NM_001040167.1 LFNG
RefSeq:NM_001040168.1 LFNG
Other Identifiers
11737710_a_at
11755546_a_at
17042997
215270_PM_at
215270_at
228762_PM_at
228762_at
2987550
2987551
2987552
2987553
2987554
2987555
2987556
2987557
2987560
2987562
2987563
2987564
2987565
2987566
2987568
2987569
2987570
2987571
2987572
2987573
31908_at
3955
52429_at
8131143
89153_at
A_23_P434518
A_23_P8452
GE478598
GE809993
GE88086
GO:0000139
GO:0001541
GO:0001756
GO:0002315
GO:0002376
GO:0003824
GO:0005576
GO:0005794
GO:0007386
GO:0007389
GO:0008593
GO:0009887
GO:0014807
GO:0016020
GO:0016740
GO:0016757
GO:0030154
GO:0030217
GO:0033829
GO:0043226
GO:0045747
GO:0046872
GO:0048856
GO:0051446
GO:1902367
GO:1903561
HMNXSV003013488
HMNXSV003049762
HMNXSV003056924
Hs.159142.0.S1_3p_x_at
Hs.30701.0.A1_3p_at
Hs.30701.0.A1_3p_x_at
ILMN_1663080
ILMN_2268156
ILMN_2360401
PH_hs_0009662
TC07000034.hg
Other forms of this molecule
LFNG [Golgi membrane]
Modified Residues
Name
L-phenylalanine 188 replaced with L-leucine
Coordinate
188
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-phenylalanine removal [MOD:01644]
A protein modification that effectively removes or replaces an L-phenylalanine.
Cross References
RefSeq
NP_001035257.1
,
NP_001035258.1
,
NP_002295.1
,
NP_001159827.1
ENSEMBL
ENST00000402045
,
ENST00000338732
,
ENSP00000385764
,
ENST00000222725
,
ENSP00000384786
,
ENSP00000352579
,
ENST00000359574
,
ENST00000402506
,
ENSP00000343095
,
ENSP00000222725
OpenTargets
ENSG00000106003
HPA
ENSG00000106003-LFNG
PRO
Q8NES3
Pharos - Targets
Q8NES3
Orphanet
LFNG
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