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
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:O95461 LARGE1
Gene Names
LARGE1, KIAA0609, LARGE
Chain
chain:1-756
Reference Genes
BioGPS Gene:9215 LARGE1
CTD Gene:9215 LARGE1
dbSNP Gene:9215 LARGE1
ENSEMBL:ENSG00000133424 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
Other Identifiers
0002320750
0005690373
11719245_a_at
11749690_a_at
16934308
204414_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
41346_at
8075637
9215
A_23_P91697
AAI17426
AAI26405
AB011181
AHW56517
AJ007583
AL008630
AL008715
AL096754
B0QY08
B0QY11
B0QYZ8
B0QYZ9
B0QZ00
B0QZ01
B0QZ02
B7ZB84
B7ZB85
BAA25535
BC117425
BC126404
CAA07571
CAG30396
CAI17890
CAI17950
CAI18754
CAI18769
CAI18772
CAI18784
CAI18785
CAI18788
CAQ06856
CAQ08281
CAQ08801
CAQ09323
CAQ09434
CAQ09895
CAQ10763
CAQ11002
CCDS13912
CH471095
CR456510
EAW60041
EAW60042
ENSG00000133424
ENSP00000347088
ENSP00000380549
ENSP00000385223
ENST00000354992
ENST00000354992.6
ENST00000397394
ENST00000397394.6
ENST00000402320
ENST00000402320.5
EntrezGene:9215
EntrezGene:LARGE1
GE55179
GO:0000139
GO:0003674
GO:0003824
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005794
GO:0006044
GO:0006464
GO:0006486
GO:0006493
GO:0006629
GO:0006688
GO:0006950
GO:0008150
GO:0008152
GO:0008375
GO:0009058
GO:0009101
GO:0015020
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0030145
GO:0030173
GO:0035252
GO:0035269
GO:0040007
GO:0042285
GO:0042592
GO:0043167
GO:0043226
GO:0043231
GO:0043403
GO:0046716
GO:0046872
GO:0048856
GO:0060538
HGNC:6511
Hs.25220.1.S1_3p_a_at
ILMN_1662038
ILMN_1803412
ILMN_2408430
IPR002495
IPR029044
KJ534877
LARGE
LARGE1
LARGE1-201
LARGE1-202
LARGE1-203
MIM:236670
MIM:603590
MIM:608840
MIM:613154
NM_001362949
NM_001362951
NM_001362953
NM_004737
NM_133642
NP_001349878
NP_001349880
NP_001349882
NP_004728
NP_598397
PF01501
PF13896
PH_hs_0002216
TC22000688.hg
UPI000012E200
UPI00004DEA5A
X5DR28
XM_005261831
XM_005261832
XM_011530512
XM_024452302
XP_005261888
XP_005261889
XP_011528814
XP_024308070
Z68287
Z69042
Z69943
Z70288
Z82173
Participant Of
hasMember
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-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name Identifier Synonyms
congenital muscular dystrophy 0050557
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6VN20 RANBP10  1 0.508 2