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Protein Page:
B3GALTL (human)

Overview
B3GALTL O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan. Defects in B3GALTL are the cause of Peters-plus syndrome (PpS). PpS is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. Belongs to the glycosyltransferase 31 family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; EC 2.4.1.-; Transferase
Chromosomal Location of Human Ortholog: 13q12.3
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: transferase activity, transferring glycosyl groups
Biological Process: cellular protein metabolic process; fucose metabolic process; post-translational protein modification; protein amino acid O-linked glycosylation
Disease: Peters-plus Syndrome
Reference #:  Q6Y288 (UniProtKB)
Alt. Names/Synonyms: B3GALTL; B3Glc-T; B3GLCT; B3GLT; B3GTL; beta 1,3-galactosyltransferase-like; beta 3-glycosyltransferase-like; Beta-1,3-glucosyltransferase; Beta-3-glycosyltransferase-like; Beta3Glc-T; Gal-T; UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like
Gene Symbols: B3GALTL
Molecular weight: 56,564 Da
Basal Isoelectric point: 7.23  Predict pI for various phosphorylation states
Select Structure to View Below

B3GALTL

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 LTP 

LTP: 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.


 HTP 

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


       human

 
0 1 S357‑p DDTLISIsRLQHLLS
  mouse

 
S348 DDTLISISRLRHLLS
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