Version 5.4
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
IDBP-19122
Williams-Beuren syndrome chromosome region 17
IDBP-377132
Williams-Beuren syndrome chromosome region 17
IDBP-807822
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
ENSMUSG00000034040
View Gene Order
ENSBTAG00000008718
Not yet available
Pathways
NETPATH
REACTOME
REACT_115606
O-linked glycosylation of mucins pathway
REACT_22161
Post-translational protein modification pathway
REACT_200727
O-linked glycosylation pathway
REACT_17015
Metabolism of proteins pathway
KEGG
hsa00512
Mucin type O-Glycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt Q6IS24
TrEMBL B3KRD2 H7BZX9 Q2L4S5 Q68CW8
UniProt Splice Variant
Entrez Gene 64409
UniGene Hs.488591
RefSeq NM_022479
HUGO HGNC:16347
OMIM 615137
CCDS CCDS5540
HPRD
IMGT
EMBL AC004874 AC004963 AC073330 AC079398 AC091731 AC092021 AF410457 AJ626726 AK091379 AK126044 AK290036 AL137431 BC067524 BC067525 BC069624 BC069628 BC069636 BC069645 BC069997 CH236952 CH471140 CR749675
GenPept AAH67524 AAH67525 AAH69624 AAH69628 AAH69636 AAH69645 AAH69997 AAM62306 BAF82725 BAG52344 BAG54282 CAB70734 CAF25037 CAH18466 EAL23969 EAX07900
RNA Seq Atlas 64409

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