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LARGE W495R [Golgi membrane]
Stable Identifier
R-HSA-6785683
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 W495R [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:ENSG00000133424.22 LARGE1
HGNC:6511 LARGE1
KEGG Gene (Homo sapiens):9215 LARGE1
Monarch:9215 LARGE1
NCBI Gene:9215 LARGE1
OMIM:603590 LARGE1
UCSC:O95461 LARGE1
Reference Transcript
RefSeq:NM_133642.3 LARGE1
RefSeq:XM_011530510.2 LARGE1
RefSeq:XM_005261832.3 LARGE1
RefSeq:NM_004737.5 LARGE1
RefSeq:XM_005261831.3 LARGE1
Other Identifiers
0002320750
0005690373
0103170280
11719245_a_at
11749690_a_at
16934308
204414_PM_at
204414_at
215543_PM_s_at
215543_s_at
3958659
3958660
3958661
3958662
3958665
3958666
3958672
3958673
3958678
3958696
3958697
3958712
3958742
3958750
3958753
3958757
3958775
3958776
3958790
3958806
3958807
3958810
3958811
3958821
41346_at
8075637
9215
A_23_P91697
GE55179
GE904762
GO:0000139
GO:0003824
GO:0005622
GO:0005737
GO:0005794
GO:0006044
GO:0006486
GO:0006493
GO:0006629
GO:0006688
GO:0008152
GO:0008375
GO:0009101
GO:0015020
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0016758
GO:0030145
GO:0030173
GO:0035252
GO:0035269
GO:0036211
GO:0042285
GO:0043226
GO:0043231
GO:0043403
GO:0046716
GO:0046872
GO:0048856
GO:0060538
GO:1901135
HMNXSV003055247
HMNXSV003055661
Hs.25220.1.S1_3p_a_at
ILMN_1662038
ILMN_1803412
ILMN_2408430
PH_hs_0002216
Participates
as a member of
LARGE mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
LARGE S331F [Golgi membrane]
LARGE E509K [Golgi membrane]
LARGE E669Gfs*26 [Golgi membrane]
LARGE [Golgi membrane]
Modified Residues
Name
L-tryptophan 495 replaced with L-arginine
Coordinate
495
PsiMod
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name
Identifier
Synonyms
congenital muscular dystrophy
DOID:0050557
Cross References
RefSeq
NP_004728.1
,
NP_598397.1
,
XP_005261888.1
,
XP_005261889.1
,
XP_011528812.1
OpenTargets
ENSG00000133424
GeneCards
O95461
HPA
ENSG00000133424-LARGE1
Ensembl
ENSP00000502826
,
ENST00000397394
,
ENSP00000415546
,
ENST00000402320
,
ENSP00000347088
,
ENSP00000502152
,
ENST00000676132
,
ENST00000413114
,
ENST00000676070
,
ENSP00000380549
,
ENST00000354992
,
ENST00000676370
,
ENSP00000385223
,
ENSG00000133424
,
ENST00000675416
,
ENSP00000502238
,
ENSP00000501854
PRO
O95461
Pharos - Targets
O95461
Orphanet
16338
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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