S-formylglutathione hydrolase (ESD)
The protein contains 282 amino acids for an estimated molecular weight of 31463 Da.
Serine hydrolase involved in the detoxification of formaldehyde. (updated: March 4, 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.
This protein is annotated as membranous in Gene Ontology.
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| Variant | Description |
|---|---|
| allele ESD*2 | |
| dbSNP:rs15303 |
The reference OMIM entry for this protein is 133280
Esterase d; esd s-formylglutathione hydrolase, included; fgh, included
Hopkinson et al. (1973) described a red cell esterase that they called esterase D (EC 3.1.1.1). Although studied in red cell hemolysates, esterase D was found in many different tissues including cultured fibroblasts and lymphocytoid cells. Genetic polymorphism was discovered in European, black, and Indian populations. Cowell et al. (1986) showed that there is a consistently lower level of esterase D enzyme activity in persons with the 2-2 phenotype when activity is measured in certain ways. They emphasized the importance of checking the electrophoretic phenotype before concluding that chromosome 13 deletion is present in a family being studied in connection with retinoblastoma (see later). Munier et al. (1988) reviewed 16 rare alleles at the ESD locus and reported a previously undescribed variant in a Portuguese family. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988). From study of somatic cell hybrids, Van Heyningen et al. (1975) concluded that the esterase D locus may be on chromosome 13. By the same method, Chen et al. (1975) also assigned this locus to chromosome 13. Namboodiri et al. (1977) concluded that Lp (152200) and esterase D are closely linked; the lod score was 2.32 at a recombination fraction of 0.0. However, Greger et al. (1988) excluded the linkage of LPA not only with ESD but also with RB1 (614041). (Subsequently, the LPA locus was mapped to 6q27.) Sparkes et al. (1980) found that quantitative and qualitative expression of esterase D in 5 persons with partial deletions or duplications of chromosome 13 supported localization of the gene to 13q14. The same band had been found deleted in cases of retinoblastoma. They suggested that linkage of familial retinoblastoma and esterase D should be sought, to check on whether familial retinoblastoma represents mutation at the same locus as that deleted in the 'chromosomal' form of the disorder, and, if linkage were found, to provide a means of genetic counseling and early diagnosis, including prenatal diagnosis. Rivera et al. (1981) concluded that the retinoblastoma and esterase D loci are in the proximal half of the 13q14 band. Mohandas et al. (1982) found that mouse-human cell hybrid clones retaining a human X/13 translocation did not express esterase D. They suggested that this may reflect spreading of inactivation into the autosomal part of the translocation chromosome. The breakpoint in chromosome 13 was 13q12. The X/13 translocation was derived from a patient who had bilateral retinoblastoma and failure to thrive, identified by Cross et al. (1977) and studied further by Nichols et al. (1980), who proposed that since the translocation chromosome was late-labeling, the patient was effectively monosomic for 13q14 in a majority of her cells. (Couturier et al. (1979) gave a comparable explanation for the low superoxide dismutase found in a case of X/21 translocation.) In a patient with retinoblastoma and deletion of 13q14.1-q22.3, Sparkes et al. (1984) found that the esterase D locus was apparently intact--levels of enzyme activity were normal in red blood cells and in fibroblasts. This indicated that the order of genes is centromere--ESD--RB1. Frydman et al. (1985) investigated linkage of Wilson disease (277900) with 27 autosomal markers. A lod score of 3.21 was found at theta = 0.06 for linkage of WD and esterase D on chromosome 13. In a note added in proof, they indicated that they had typed a second unrelated 10-member sibship with W ... 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
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 133280 was added.
Jan. 28, 2016: Protein entry updated
Automatic update: model status changed
Jan. 25, 2016: Protein entry updated
Automatic update: model status changed