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Details on Person UniProt:Q8IYB7-3 DIS3L2
| Class:Id | ReferenceIsoform:227031 |
|---|---|
| _chainChangeLog | chain:1-885 added on Fri February 6 2015 |
| _displayName | UniProt:Q8IYB7-3 DIS3L2 |
| _timestamp | 2024-11-03 19:40:38 |
| chain | chain:1-885 |
| checksum | 0F6757DCD1975412 |
| comment | 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.COFACTOR Interacts with XRN1.SUBCELLULAR LOCATION Specifically recognizes and binds polyuridylated RNAs via 3 RNA-binding regions (named U-zone 1, U-zone 2 and U-zone 3) that form an open funnel on one face of the catalytic domain, allowing RNA to navigate a path to the active site.POLYMORPHISM 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.MISCELLANEOUS May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.SIMILARITY Belongs to the RNR ribonuclease family. DIS3L2 subfamily.CAUTION Although assigned as two separate genes (DIS3L2 and FAM6A), it is quite clear that the gene FAM6A described by PubMed:11352565 is a fragmentary prediction of DIS3L2. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="1"DIS3-like exonuclease 2 shortName: hDIS3L2 ecNumber evidence="1"3.1.13.- |
| geneName | DIS3L2 FAM6A |
| identifier | Q8IYB7 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Cell cycle Cell division Cytoplasm Disease variant Exonuclease Hydrolase Magnesium Metal-binding Mitosis Nuclease Phosphoprotein Proteomics identification Reference proteome RNA-binding Tumor suppressor |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | DIS3L2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988915] ENSEMBL:ENSG00000144535 DIS3L2 [Homo sapiens] |
| secondaryIdentifier | DI3L2_HUMAN Q53S79 Q580W6 Q5XKH0 Q69YG5 Q6AW99 Q7Z4T6 Q8N9K9 |
| sequenceLength | 885 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q8IYB7-3 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8IYB7-3 DIS3L2 (227031)
