Version 5.4
Homo sapiens Protein: B3GALTL
Summary
InnateDB Protein IDBP-21905.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GALTL
Protein Name beta 1,3-galactosyltransferase-like
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000343002
InnateDB Gene IDBG-21901 (B3GALTL)
Protein Structure
UniProt Annotation
Function 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. {ECO:0000269PubMed:16899492}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000255PROSITE-ProRule:PRU10138, ECO:0000269PubMed:16899492}; Single-pass type II membrane protein {ECO:0000269PubMed:16899492}.
Disease Associations Peters-plus syndrome (PpS) [MIM:261540]: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. {ECO:0000269PubMed:16909395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed, with highest levels in testis and uterus. {ECO:0000269PubMed:12943678, ECO:0000269PubMed:16899492}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016757 transferase activity, transferring glycosyl groups
Biological Process
GO:0006004 fucose metabolic process
GO:0006486 protein glycosylation
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003378 Fringe-like
IPR029044 Nucleotide-diphospho-sugar transferases
PFAM PF02434
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6Y288
PhosphoSite PhosphoSite-Q6Y288
TrEMBL
UniProt Splice Variant
Entrez Gene 145173
UniGene Hs.629377
RefSeq NP_919299
HUGO HGNC:20207
OMIM 610308
CCDS CCDS9341
HPRD 12513
IMGT
EMBL AB101481 AK291273 AL137142 AL138965 AY190526 BC068595 CH471075
GenPept AAH68595 AAO37647 BAD13528 BAF83962 CAH73049 CAI12432 EAX08483

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca