RBCC Red Blood Cell Collection

DI3L2_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: DIS3L2 , FAM6A
Protein names and data: DI3L2_HUMAN , DIS3-like exonuclease 2; hDIS3L2; 3.1.13.- Lenght: 885 a.a.
Mass: 99279 Da
fasta formatted sequence
Function: 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.
Disease: ( OMIM: 267000 614184 ) Perlman syndrome (PRLMNS) [MIM:267000]: An autosomal recessive congenital overgrowth syndrome. 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. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cytoplasm, P-body.

Genetic variants

Disrupted by a t(2;7)(q37.1;q21.3) chromosomal translocation found in a patient suffering from Marfanoid habitus and skeletal anomalies. However, its absence does not seem to be the cause of the disease.

12 - 12 P -> S (in dbSNP:rs723044). VAR_038059 723044
483 - 483 R -> G (probable disease-associated mutation found in a patient with Wilms tumor; does not suppress anchorage- independent cell growth; dbSNP:rs186865544). VAR_067577 186865544
489 - 489 C -> Y (in PRLMNS). VAR_067578
576 - 576 R -> H (probable disease-associated mutation found in a patient with Wilms tumor; does not suppress anchorage- independent cell growth). VAR_067579

Database cross-references

UniProt: Q8IYB7
Ensembl: ENST00000273009
Ensembl: ENST00000325385
Ensembl: ENST00000360410
Ensembl: ENST00000390005
Ensembl: ENST00000409307
Ensembl: ENST00000409401
Ensembl: ENST00000433430
Ensembl: ENST00000445090
MIM: 267000
MIM: 614184
neXtProt: NX_Q8IYB7
Antibodypedia: Q8IYB7 (may not find the protein thus also not any antibody)
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