UniProt UniProt http://www.uniprot.org Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol. Genet. Metab. (1096-7192) 2013 imex curation Yang A.C., Ng B.G., Moore S.A., Rush J., Waechter C.J., Raymond K.M., Willer T., Campbell K.P., Freeze H.H., Mehta L. Rare diseases - Interactions investigated in the context of Rare genetic disease Transfected plasmids have been described in ref 5 (pmid 10835346) and proteins have been mapped accordingly. amy.yang@mssm.edu 18-Feb-2014: Contacted by IntAct-Help. Only protein-protein interactions human-293t Homo sapiens 293 cells transformed with SV40 large T antigen 293t 293 cells expressing SV40 large T antigen. The original designation of this cell line was 293tsA1609neo. It is not in Cabri,ATCC or HyperCLDB. pull down pull down anti tag western anti tag western blot anti tag western Yang A.C., Ng B.G., Moore S.A., Rush J., Waechter C.J., Raymond K.M., Willer T., Campbell K.P., Freeze H.H., Mehta L. Rare diseases - Interactions investigated in the context of Rare genetic disease Transfected plasmids have been described in ref 5 (pmid 10835346) and proteins have been mapped accordingly. amy.yang@mssm.edu Accepted 2014-FEB-11 by MGT Mol. Genet. Metab. (1096-7192) 2013 imex curation dpm3_human Dolichol-phosphate mannosyltransferase subunit 3 DPM3 Dolichol-phosphate mannose synthase subunit 3 Dolichyl-phosphate beta-D-mannosyltransferase subunit 3 Mannose-P-dolichol synthase subunit 3 Prostin-1 protein protein human Homo sapiens Human MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF C350A6896842A877 dpm1_human Dolichol-phosphate mannosyltransferase subunit 1 DPM1 Dolichol-phosphate mannose synthase subunit 1 Dolichyl-phosphate beta-D-mannosyltransferase subunit 1 Mannose-P-dolichol synthase subunit 1 protein protein human Homo sapiens Human MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT 9792145BFC8F0514 dpm3-dpm1 1 2 unspecified role unspecified role bait bait region gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 3 unspecified role unspecified role prey prey region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined O60762:p.Gly152Val mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain G V Wed May 02 17:05:18 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gly152val' Tue Jun 30 18:43:06 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gly152Val' Variant linked to disease CDG1E; Uniprot FTId: VAR_070592 physical association physical association 6