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
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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
GE55179
GO:0000139
GO:0003674
GO:0003824
GO:0005575
GO:0005622
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
Hs.25220.1.S1_3p_a_at
ILMN_1662038
ILMN_1803412
ILMN_2408430
PH_hs_0002216
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
HPA
Ensembl
PRO
Orphanet
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6VN20 RANBP10  1 0.508 2
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