Mannose-P-dolichol utilization defect 1 protein (MPDU1)
The protein contains 247 amino acids for an estimated molecular weight of 26638 Da.
Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors. (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| CDG1F | |
| CDG1F | |
| CDG1F | |
| dbSNP:rs16956808 | |
| dbSNP:rs10852891 |
Biological Process
Dolichol-linked oligosaccharide biosynthetic process
Oligosaccharide biosynthetic process
Protein folding
Molecular Function
The reference OMIM entry for this protein is 604041
Mannose-p-dolichol utilization defect 1; mpdu1
Suppressor of lec15; sl15
Lec35
CLONING
MPD synthase (DPM1; 603503) catalyzes the synthesis of mannose-P-dolichol (MPD), an essential sugar donor for glycoconjugates and an essential substrate for synthesis of glycosylphosphatidylinositols (GPIs). The Chinese hamster ovary (CHO) Lec15 and Lec35 mutant cells are defective in synthesis and utilization, respectively, of MPD. Using an expression cloning strategy, Ware and Lehrman (1996) isolated SL15 (suppressor of Lec15), which was originally thought to correct the Lec15 phenotype and suppress the Lec35 mutation. In an erratum, the authors stated that correction of the Lec15 phenotype was not certain, but they remained confident that the SL15 cDNA suppressed the Lec35 mutation. Sequence analysis indicated that SL15 encodes a transmembrane protein with cytosolic C and N termini. There was no significant sequence similarity between SL15 and the S. cerevisiae MPD synthase, leading the authors to suggest that SL15 plays a distinct role in MPD synthesis. See also DPM2 (603564). Mao et al. (1998) identified an umbilical cord blood CD34-positive cell cDNA encoding the human homolog of SL15. The predicted human protein contains 247 amino acids.MAPPING
By analysis of radiation hybrids, Mao et al. (1998) mapped the human SL15 gene to 17p13.1-p12. Gross (2014) mapped the MPDU1 gene to chromosome 17p13.1 based on an alignment of the MPDU1 sequence (GenBank GENBANK AF038961) with the genomic sequence (GRCh37).MOLECULAR GENETICS
In 3 unrelated patients with congenital disorder of glycosylation type If (609180), Schenk et al. (2001) identified mutations in the MPDU1 gene: 2 patients of consanguineous parents were homozygotes (604041.0001 and 604041.0002, respectively) and the other was a compound heterozygote (604041.0003 and 604041.0004). In a patient with CDG If, Kranz et al. (2001) identified a homozygous point mutation in the MPDU1 gene (604041.0005). ... More on the omim web site
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 604041 was added.
Dec. 10, 2018: Protein entry updated
Automatic update: model status changed
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).