Homo sapiens Gene: B3GALTL

Summary
InnateDB Gene IDBG-21901.4
Last Modified 2011-02-17   [Report errors or provide feedback]
Gene Symbol B3GALTL
Gene Name beta 1,3-galactosyltransferase-like
Synonyms B3Glc-T; B3GLCT; B3GTL; beta3Glc-T; Gal-T
Species Homo sapiens
Ensembl Gene ENSG00000187676
Encoded Proteins
IDBP-21905 beta 1,3-galactosyltransferase-like
Entrez Gene
Summary The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 13: 31774073-31906413
Strand Forward strand
Band q12.3
Transcripts
ENST00000343307  ENSP00000343002
ENST00000461652 
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  0
Protein‑DNA 0
Protein‑RNA 1
[view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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 to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000051950 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000033412 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
hsa00514  Other types of O-glycan biosynthesis
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q6Y288 
TrEMBL
UniProt Splice Variant
Entrez Gene 145173 
UniGene Hs.13205 Hs.629377
RefSeq NM_194318 
HUGO 20207 
OMIM 610308
CCDS CCDS9341 
HPRD 12513
IMGT
EMBL AB101481 AK291273 AL137142 AL138965 AY190526 BC068595 CH471075
GenPept AAH68595  AAO37647  BAD13528  BAF83962  CAH73049  CAI12432  EAX08483 
ImmGen B3GALTL (murine) 
RNA Seq Atlas 145173