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Protein Page:
LARGE (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
LARGE Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit. Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B6 (MDDGB6). A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6); also called muscle-eye-brain disease LARGE- related or Walker-Warburg syndrome LARGE-related. MDDGA6 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Belongs to the glycosyltransferase 8 family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 2.4.-.-; Transferase; Membrane protein, integral
Cellular Component: integral to Golgi membrane
Molecular Function: acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups
Biological Process: muscle maintenance; glycosphingolipid biosynthetic process; glycoprotein biosynthetic process; N-acetylglucosamine metabolic process; protein amino acid glycosylation
Reference #:  O95461 (UniProtKB)
Alt. Names/Synonyms: Acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; Glycosyltransferase-like protein LARGE1; KIAA0609; LARGE; LARGE1; like-acetylglucosaminyltransferase; like-glycosyltransferase; MDC1D
Gene Symbols: LARGE
Molecular weight: 88,066 Da
Basal Isoelectric point: 7.89  Predict pI for various phosphorylation states
Select Structure to View Below

LARGE

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 6 Y295-p WPALGRGyNTGVILL
0 1 Y516 EAQQFLRYAQGSEVL
0 1 Y531 MSRHNVGYHIVYKEG
0 1 K728-m3 KQYRICLkTLKEEFQ
  mouse

 
Y295 WPALGRGYNTGVILL
Y516 EAQQFLRYAQGSEVL
Y531 MSRQNVGYHIVYKEG
K728 KQYRICLKTLKEEFQ
  rat

 
Y295 WPALGRGYNTGVILL
Y516-p EAQQFLRyAQGSEVL
Y531-p MSRQNVGyHIVYKEG
K728 KQYRVCLKTLKEEFQ
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