Glucosidase 2 subunit beta (PRKCSH)
The protein contains 528 amino acids for an estimated molecular weight of 59425 Da.
Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity). (updated: Nov. 7, 2018)
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.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- 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.
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| Variant | Description |
|---|---|
| dbSNP:rs10406672 | |
| dbSNP:rs11557488 | |
| dbSNP:rs35847588 |
Biological Process
Cellular protein metabolic process
Innate immune response
Intracellular signal transduction
Liver development
N-glycan processing
Post-translational protein modification
Protein folding
Protein N-linked glycosylation via asparagine
Viral protein processing
Cellular Component
Endoplasmic reticulum
Endoplasmic reticulum lumen
Glucosidase II complex
Intracellular anatomical structure
Intracellular membrane-bounded organelle
Molecular Function
Calcium ion binding
Ion channel binding
Phosphoprotein binding
Protein kinase C binding
The reference OMIM entry for this protein is 174050
Polycystic liver disease; pcld
A number sign (#) is used with this entry because isolated polycystic liver disease can be caused by mutations in the PRKCSH gene (177060). Mutations in the SEC63 gene (608648) also cause autosomal dominant polycystic liver disease.
CLINICAL FEATURES
Berrebi et al. (1982) suggested that polycystic liver disease exists as an autosomal dominant entity independent of polycystic kidney disease (PKD; 173900), which in a considerable but uncertain proportion of cases is associated with hepatic cysts. They described a family in which 2 sisters and the 2 daughters of 1 of the sisters had polycystic liver disease without involvement of the kidneys. One of the 'daughters' had 4 children and 7 grandchildren, all apparently unaffected. The authors suggested that either the 4 'children' did not inherit their mother's PCLD gene or had not yet expressed it because of younger age, none being over age 35 years. In fact, the affected women in the family of Berrebi et al. (1982) did show single cysts or a small number of cysts in the kidney, and at least 1 had 'numerous small 2-3 mm cysts...throughout the pancreas.' The authors pointed to the family reported by Sotaniemi et al. (1979) and Luoma et al. (1980) as another probable example of the distinct entity. Karhunen and Tenhu (1986) also presented evidence supporting the notion that adult polycystic liver disease is an entity separate from adult polycystic kidney disease. In 22 cases of either polycystic disease of the liver or polycystic disease of the kidney that were found in 33,700 medicolegal autopsies, both organs were affected in only 1 case. In another case of adult PKD, the liver was macroscopically normal but contained microcysts and typical von Meyenburg complexes from which the cysts originate. Cerebral hemorrhage was found only with adult PKD and was not observed in cases of only PCLD. The authors planned to study the families of their probands with PCLD. Strong genetic evidence that adult polycystic liver disease is an entity distinct from either polycystic kidney disease type 1 (PKD1; 601313) or PKD2 (613095) was presented by Pirson et al. (1996) who traced the disorder through 3 generations, excluded the presence of kidney cysts, and excluded linkage of the disease in this family to the genetic markers of PKD1 and PKD2. The proband was a 61-year-old man with highly symptomatic PCLD, diagnosed at age 50. The patient's mother also had massive PCLD without known kidney disease; she died of cancer of unknown origin at age 80. The proband's sister had extensive PCLD with mild hepatomegaly and without kidney cysts. The proband's daughter had marked PCLD with normal liver size. The proband's son had no liver cysts. Information added in proof seemed to establish the autosomal dominant inheritance of the disorder: a 56-year-old maternal first cousin of the proband was found to have extensive PCLD with mild hepatomegaly without cysts in the kidneys, pancreas, or spleen. He presumably inherited the disorder from his father, the maternal uncle of the proband.MAPPING
- Linkage to Chromosome 19p13 The clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease are indistinguishable, suggesting that PCLD may be allelic to one of the forms of autosomal dominant PKD. The genetically distinct nature of isolated polycystic liver disease was supported by the finding of Reynolds et al. (2000) that ... More on the omim web site
Nov. 16, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
July 2, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 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 174050 was added.
Feb. 25, 2016: Protein entry updated
Automatic update: model status changed
Feb. 24, 2016: Protein entry updated
Automatic update: model status changed
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed