DIS3-like exonuclease 2 (DIS3L2)
The protein contains 885 amino acids for an estimated molecular weight of 99279 Da.
3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation. (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.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
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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Biological Process
Cell division
MiRNA catabolic process
Mitotic cell cycle
Mitotic nuclear division
Mitotic sister chromatid separation
MRNA catabolic process
Negative regulation of cell population proliferation
Nuclear-transcribed mRNA catabolic process, exonucleolytic
Nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
Polyuridylation-dependent mRNA catabolic process
RNA catabolic process
RNA phosphodiester bond hydrolysis
RNA phosphodiester bond hydrolysis, exonucleolytic
RRNA processing
Stem cell population maintenance
The reference OMIM entry for this protein is 267000
Perlman syndrome; prlmns
Renal hamartomas, nephroblastomatosis, and fetal gigantism
Nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor
A number sign (#) is used with this entry because of evidence that Perlman syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene (614184) on chromosome 2q37.2.
DESCRIPTION
Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).CLINICAL FEATURES
Liban and Kozenitzky (1970) and Perlman et al. (1973) described 5 offspring, of Jewish-Yemenite second-cousin parents, with a disorder manifested by large birth size, bilateral renal hamartomas with or without nephroblastomatosis, hypertrophy of the islets of Langerhans, and unusual facies. The longest survival was 27 days. There are some obvious similarities to the Beckwith-Wiedemann syndrome (130650) but the facies is thought to be characteristic with depressed nasal bridge and anteverted upper lip. Perlman et al. (1975) reported a sixth offspring from the Jewish-Yemenite family with fetal gigantism, renal hamartomas, and nephroblastomatosis, in whom Wilms tumor (194070) occurred. Perlman (1986) published very instructive photographs of the 2 sibs that he and his colleagues reported in 1973 and 1975. The remarkably similar and distinctive facies consisted of round fullness, hypotonic appearance with open mouth, a long upper lip with inverted V-shape, upsweep of anterior scalp hair, and mild micrognathia. Neri et al. (1984) reported an affected brother and sister with unaffected, unrelated parents. The brother died suddenly at 8 months of age after a seizure during an apneic episode. His sister, who underwent surgery for Wilms tumor (194070) and removal of a recurrence at 4.5 and 5.5 years of age, respectively, with subsequent removal of a pulmonary metastasis and hamartoma at 6.5 years of age, was alive at 12 years of age. Hyperinsulinism is probably an important feature and may be a preventable cause of death. The cases of Greenberg et al. (1984, 1985, 1986) were in 2 sibs with polyhydramnios, fetal ascites, abdominal muscular hypoplasia, visceromegaly, and subsequent development of bilateral Wilms tumor in one of them. This disorder should be considered in the differential diagnosis of fetal ascites without hydrops. Dao et al. (1987) studied chromosome 11p markers in a patient with this syndrome and found the same loss of 11p DNA sequences that occurs in Wilms tumor. Genetic differences between 2 tumors indicated that they developed independently, the results of different genetic events. Greenberg et al. (1988) reported an infant with manifestations of Perlman syndrome, including polyhydramnios, macrosomia, bila ... 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
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 267000 was added.