Version 5.4
| Homo sapiens Protein: WBSCR17 | |||||||
|---|---|---|---|---|---|---|---|
| Summary | |||||||
| InnateDB Protein | IDBP-19122.6 | ||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
| Gene Symbol | WBSCR17 | ||||||
| Protein Name | Williams-Beuren syndrome chromosome region 17 | ||||||
| Synonyms | |||||||
| Species | Homo sapiens | ||||||
| Ensembl Protein | ENSP00000329654 | ||||||
| InnateDB Gene | IDBG-19120 (WBSCR17) | ||||||
| Protein Structure |
|
||||||
| UniProt Annotation | |||||||
| Function | May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. {ECO:0000250}. | ||||||
| Subcellular Localization | Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. | ||||||
| Disease Associations | Note=WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. | ||||||
| Tissue Specificity | Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen. {ECO:0000269PubMed:12073013}. | ||||||
| Comments | |||||||
| 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 |
|
||||||
| Biological Process |
|
||||||
| Cellular Component |
|
||||||
| Protein Structure and Domains | |||||||
| PDB ID | |||||||
| InterPro |
IPR000772
Ricin B lectin domain IPR001173 Glycosyltransferase 2-like IPR029044 Nucleotide-diphospho-sugar transferases |
||||||
| PFAM |
PF00652
PF14200 PF00535 |
||||||
| PRINTS | |||||||
| PIRSF | |||||||
| SMART |
SM00458
|
||||||
| TIGRFAMs | |||||||
| Post-translational Modifications | |||||||
| Modification | |||||||
| Cross-References | |||||||
| SwissProt | Q6IS24 | ||||||
| PhosphoSite | PhosphoSite-Q6IS24 | ||||||
| TrEMBL | Q68CW8 | ||||||
| UniProt Splice Variant | |||||||
| Entrez Gene | 64409 | ||||||
| UniGene | Hs.488591 | ||||||
| RefSeq | NP_071924 | ||||||
| HUGO | HGNC:16347 | ||||||
| OMIM | 615137 | ||||||
| CCDS | CCDS5540 | ||||||
| HPRD | 15655 | ||||||
| IMGT | |||||||
| EMBL | 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 | ||||||