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LARGE S331F [Golgi membrane]
Stable Identifier
R-HSA-6785675
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Glycosyltransferase-like protein LARGE1 ecNumber2.4.-.-/ecNumber, LARGE_HUMAN
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 LARGE causes MDDGA6 and MDDGB6 (Homo sapiens)
Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA (Homo sapiens)
B4GAT1:LARGE mutants [Golgi membrane] (Homo sapiens)
LARGE mutants [Golgi membrane] (Homo sapiens)
LARGE S331F [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O95461 LARGE1
Gene Names
LARGE1, KIAA0609, LARGE
Chain
chain:1-756
Reference Genes
BioGPS Gene:9215 LARGE1
COSMIC (genes):LARGE1 LARGE1
CTD Gene:9215 LARGE1
dbSNP Gene:9215 LARGE1
ENSEMBL:ENSG00000133424 LARGE1
HGNC:6511 LARGE1
Monarch:9215 LARGE1
NCBI Gene:9215 LARGE1
OMIM:603590 LARGE1
UCSC:O95461 LARGE1
Reference Transcript
RefSeq:XM_005261831.3 LARGE1
RefSeq:NM_004737.5 LARGE1
RefSeq:XM_005261832.3 LARGE1
RefSeq:XM_011530510.2 LARGE1
RefSeq:NM_133642.3 LARGE1
Other Identifiers
11719245_a_at
11749690_a_at
16934308
204414_PM_at
204414_at
215543_PM_s_at
215543_s_at
3958635
3958637
3958659
3958660
3958661
3958662
3958665
3958666
3958672
3958673
3958674
3958675
3958678
3958696
3958697
3958712
3958738
3958742
3958749
3958750
3958753
3958757
3958775
3958776
3958790
3958806
3958807
3958810
3958811
3958821
41346_at
70708_at
8075637
9215
A_23_P91697
GE55179
GE904762
GO:0000139
GO:0001568
GO:0001662
GO:0001764
GO:0003012
GO:0003824
GO:0005515
GO:0005794
GO:0005886
GO:0006044
GO:0006486
GO:0006493
GO:0006612
GO:0006629
GO:0006688
GO:0006833
GO:0006886
GO:0006941
GO:0006954
GO:0007009
GO:0007010
GO:0007268
GO:0007274
GO:0007420
GO:0007507
GO:0007517
GO:0007528
GO:0007605
GO:0007613
GO:0008104
GO:0008194
GO:0008340
GO:0008375
GO:0009100
GO:0009101
GO:0009416
GO:0009612
GO:0010467
GO:0010842
GO:0014902
GO:0015020
GO:0016020
GO:0016740
GO:0016757
GO:0016758
GO:0021542
GO:0021675
GO:0021740
GO:0023052
GO:0030145
GO:0030154
GO:0030198
GO:0030225
GO:0031594
GO:0032991
GO:0034330
GO:0035129
GO:0035252
GO:0035264
GO:0035269
GO:0036211
GO:0042285
GO:0042552
GO:0043226
GO:0043231
GO:0043403
GO:0043687
GO:0046716
GO:0046872
GO:0048167
GO:0048708
GO:0048738
GO:0048741
GO:0048856
GO:0048870
GO:0050808
GO:0050877
GO:0050884
GO:0050905
GO:0051124
GO:0051674
GO:0055002
GO:0055013
GO:0055085
GO:0060041
GO:0060173
GO:0060291
GO:0060348
GO:0060538
GO:0061024
GO:0061298
GO:0061448
GO:0065003
GO:0071711
GO:0071805
GO:0072657
GO:0072659
GO:0090659
GO:0095500
GO:0098528
GO:0150103
GO:1901135
HMNXSV003022105
HMNXSV003055247
HMNXSV003055661
Hs.25220.1.S1_3p_a_at
ILMN_1662038
ILMN_1803412
ILMN_2408430
PH_hs_0002216
p11012
Participates
as a member of
LARGE mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
LARGE [Golgi membrane]
LARGE W495R [Golgi membrane]
LARGE E669Gfs*26 [Golgi membrane]
LARGE E509K [Golgi membrane]
Modified Residues
Name
L-serine 331 replaced with L-phenylalanine
Coordinate
331
PsiMod
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
Disease
Name
Identifier
Synonyms
congenital muscular dystrophy
DOID:0050557
Cross References
OpenTargets
ENSG00000133424
ENSEMBL
ENST00000397394
,
ENSP00000502152
,
ENST00000675416
,
ENST00000354992
,
ENSP00000385223
,
ENST00000676132
,
ENSP00000347088
,
ENST00000413114
,
ENST00000676370
,
ENSP00000415546
,
ENSP00000502238
,
ENSP00000501854
,
ENST00000676070
,
ENSP00000502826
,
ENSP00000380549
,
ENST00000402320
HPA
ENSG00000133424-LARGE1
PRO
O95461
Pharos - Targets
O95461
Orphanet
LARGE1
GlyGen
O95461
PDB
7UI6
,
7ZVJ
,
7UI7
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q6VN20 RANBP10
1
RANBP10 [cytosol]
(R-HSA-8851865)
0.508
2
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