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acetylglucosaminyltransferase-like protein LARGE; acetylglucosaminyltransferase-like 1A (LARGE, LARGE1, KIAA0609)
Function:
1) presumptive glycosyltransferase
2) glycosylation of alpha-dystroglycan
3) synthesis of glycoprotein & glycosphingolipid sugar chains
- addition of a repeated disaccharide unit (putative)
4) interacts with DAG1 (via N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin
Structure:
- belongs to the glycosyltransferase 8 family
Compartment:
- Golgi membrane; single-pass type 2 membrane protein
Alternative splicing: named isoforms=2
Expression:
- ubiquitous
- highest expression in heart, brain, skeletal muscle
Pathology:
- defects associated with congenital muscular dystrophy type 1D
General
glycosyltransferase
human longevity protein
Properties
SIZE: MW = 88 kD
entity length = 756 aa
COMPARTMENT: golgi
MOTIF: transmembrane domain {11-31}
coiled coil {53-95}
N-glycosylation site {N97}
N-glycosylation site {N122}
N-glycosylation site {N148}
N-glycosylation site {N272}
active site
Database Correlations
OMIM correlations
MORBIDMAP 603590
UniProt O95461
Pfam PF01501
Entrez Gene 9215
Kegg hsa:9215
References
- UniProt :accession O95461
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/LARGE
- GGDB; Note: glycogene database
http://riodb.ibase.aist.go.jp/rcmg/ggdb/
- Functional glycomics gateway - GTase
Note: glycosyltransferase-like protein LARGE1
http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewglycoEnzyme.jsp?gbpId=gt_hum_549