Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D)
The protein contains 602 amino acids for an estimated molecular weight of 69992 Da.
The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- 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.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- 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.
(right-click above to access to more options from the contextual menu)
| Variant | Description |
|---|---|
| Found in a patient with delayed psychomotor development, no speech and | |
| MRD35 | |
| MRD35 | |
| MRD35 | |
| MRD35 |
Biological Process
Carbohydrate metabolic process
Dephosphorylation
Energy reserve metabolic process
Glucose metabolic process
Glycolytic process
Innate immune response
MyD88-dependent toll-like receptor signaling pathway
MyD88-independent toll-like receptor signaling pathway
Negative regulation of peptidyl-threonine phosphorylation
Nervous system development
Neurotrophin TRK receptor signaling pathway
Pathogenesis
Positive regulation of protein dephosphorylation
Protein dephosphorylation
Regulation of catalytic activity
Regulation of protein autophosphorylation
Signal transduction
Small molecule metabolic process
Stress-activated MAPK cascade
Toll-like receptor 10 signaling pathway
Toll-like receptor 2 signaling pathway
Toll-like receptor 3 signaling pathway
Toll-like receptor 4 signaling pathway
Toll-like receptor 5 signaling pathway
Toll-like receptor 9 signaling pathway
Toll-like receptor signaling pathway
Toll-like receptor TLR1:TLR2 signaling pathway
Toll-like receptor TLR6:TLR2 signaling pathway
TRIF-dependent toll-like receptor signaling pathway
The reference OMIM entry for this protein is 601646
Protein phosphatase 2, regulatory subunit b (b56), delta; ppp2r5d
For background information on protein phosphatase-2A (PP2A) and its subunits, see 601643.
CLONING
McCright et al. (1996) cloned the B56-delta gene from a human fetal brain cDNA library using a partial cDNA sequence. They found that B56-delta encoded a 602-amino acid protein with a predicted molecular mass of 69,947 Da. This subunit is able to form a functional trimeric PP2A phosphatase when combined with an A and a C subunit.GENE FUNCTION
McCright et al. (1996) observed that the location of B56-delta varies with the cell cycle, being present in both cytoplasm and nucleus in interphase cells but concentrated in the nucleus of mitotic and recently divided cells. Both B56-beta (601644) and B56-delta are highly expressed in the adult brain, and mRNA for these isoforms increases 3- to 5-fold when neuroblastoma cell lines are induced to differentiate by retinoic acid treatment.MAPPING
McCright et al. (1996) mapped the gene for the delta subunit of protein phosphatase-2A, designated PPP2R5D, to chromosome 6p21.1 by fluorescence in situ hybridization.MOLECULAR GENETICS
The Deciphering Developmental Disorders Study (2015) identified 4 patients with intellectual disability who had heterozygous de novo missense mutations in the PPP2R5D gene. Three patients carried the same mutation (E198K; 601646.0001), and the fourth carried a different mutation (P201R; 601646.0002). The authors suggested that these mutations may perturb interactions between subunits of the protein phosphatase-2 complex. ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 601646 was added.