Homo sapiens Gene: B3GALTL
Summary
InnateDB Gene IDBG-21901.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GALTL
Gene Name beta 1,3-galactosyltransferase-like
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187676
Encoded Proteins
beta 1,3-galactosyltransferase-like
Protein Structure
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 13:31199936-31332276
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 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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
O-glycosylation of TSR domain-containing proteins pathway
KEGG
Other types of O-glycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q6Y288
TrEMBL
UniProt Splice Variant
Entrez Gene 145173
UniGene Hs.13205 Hs.629377
RefSeq NM_194318 XM_006719768
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
ImmGen B3GALTL (murine)
RNA Seq Atlas 145173