Homo sapiens Gene: WBSCR17
Summary
InnateDB Gene IDBG-19120.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WBSCR17
Gene Name Williams-Beuren syndrome chromosome region 17
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000185274
Encoded Proteins
Williams-Beuren syndrome chromosome region 17
Williams-Beuren syndrome chromosome region 17
Williams-Beuren syndrome chromosome region 17
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:71132169-71713600
Strand Forward strand
Band q11.22
Transcripts
ENST00000333538 ENSP00000329654
ENST00000447516 ENSP00000392019
ENST00000498380
ENST00000467723
ENST00000618959 ENSP00000479090
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046872 metal ion binding
Biological Process
GO:0006486 protein glycosylation
GO:0008152 metabolic process
Cellular Component
GO:0000139 Golgi 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 of mucins pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
KEGG
Mucin type O-Glycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL H7BZX9
UniProt Splice Variant
Entrez Gene 64409
UniGene Hs.488591
RefSeq NM_022479
HUGO HGNC:16347
OMIM 615137
CCDS CCDS5540
HPRD 15655
IMGT
EMBL AC004874 AC004963 AC073330 AC079398 AC091731 AC092021
GenPept
RNA Seq Atlas 64409