Pseudouridine-5'-phosphatase (HDHD1)
The protein contains 228 amino acids for an estimated molecular weight of 25249 Da.
Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine. (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.
- 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.
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:rs1131197 | |
| dbSNP:rs3747386 |
The reference OMIM entry for this protein is 306480
Haloacid dehalogenase-like hydrolase domain-containing 1a; hdhd1a
Dxf68s1e
Gs1 gene
CLONING
Yen et al. (1992) identified a new gene, designated GS1, by its association with a CpG island approximately 100 kb telomeric to the steroid sulfatase locus (STS; 300747) on the distal short arm of the X chromosome. They isolated and characterized both cDNA and genomic clones. The cDNA clone detected a 2.3-kb transcript in human placenta and fibroblasts and appeared to encode a protein of 214 amino acid residues. The GS1 gene was expressed from mouse-human cell hybrids containing either active or inactive human X chromosomes, indicating that it escapes X inactivation.MAPPING
Although Yen et al. (1992) detected homologous sequences on chromosomes 1, 20, and Y, the functional GS1 gene was located on the X chromosome.GENE STRUCTURE
The GS1 gene contains 4 exons spanning over 105 kb, with its transcriptional direction opposite to that of the STS gene.MOLECULAR GENETICS
Yen et al. (1992) stated that there are no obvious clinical differences between STS-deficient patients with point mutations in the STS gene and patients with a deletion of both the STS and the GS1 genes. ... 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 306480 was added.
Jan. 28, 2016: Protein entry updated
Automatic update: model status changed
Jan. 25, 2016: Protein entry updated
Automatic update: model status changed