Reactome will be unavailable due to host maintenance from Friday, April 27 at 6pm to Sunday, April 29 at 11:55pm.

During the outage, you may wish to use our mirror site at reactome.ncpsb.org.

LARGE E669Gfs*26

Stable Identifier
R-HSA-6785679
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Glycosyltransferase-like protein LARGE1 ecNumber2.4.-.-/ecNumber, LARGE_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
LARGE1, KIAA0609, LARGE
Chain
chain:1-756
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
B0QY08
B0QY11
B7ZB84
B7ZB85
CCDS13912
ENSG00000133424
ENSP00000347088
ENSP00000380549
ENSP00000385223
ENST00000354992
ENST00000397394
ENST00000402320
EntrezGene:9215
GE55179
GO:0000139
GO:0003824
GO:0005794
GO:0006044
GO:0006486
GO:0006493
GO:0006688
GO:0008152
GO:0008375
GO:0009101
GO:0015020
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0030145
GO:0030173
GO:0035252
GO:0035269
GO:0042285
GO:0043231
GO:0043403
GO:0046716
GO:0046872
GO:0060538
HGNC:6511
Hs.25220.1.S1_3p_a_at
Hs.474667
Hs.628816
ILMN_1662038
ILMN_1803412
ILMN_2408430
LARGE1
LARGE1-201
LARGE1-202
LARGE1-203
MIM:236670
MIM:603590
MIM:608840
MIM:613154
NM_004737
NM_133642
NP_004728
NP_598397
PF01501
PF13896
PH_hs_0002216
TC22000688.hg
uc003and.5
uc003ane.4
uc010gwp.4
UPI000012E200
UPI00004DEA5A
X5DR28
XM_005261831
XM_005261832
XM_011530510
XM_011530512
XP_005261888
XP_005261889
XP_011528812
XP_011528814
XR_001755370
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 669 to 693 by GVRPEVCRLWLEQSGSYHGAGCAGV
Disease
Name Identifier Synonyms
congenital muscular dystrophy 0050557
Cross References
GeneCards
PRO
Orphanet
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6VN20 RANBP10  1 0.508 2