InnateDB Protein
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IDBP-83181.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DIS3L2
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Protein Name
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DIS3 mitotic control homolog (S. cerevisiae)-like 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000374655
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InnateDB Gene
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IDBG-83173 (DIS3L2)
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Protein Structure
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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. {ECO:0000255HAMAP-Rule:MF_03045, ECO:0000269PubMed:23756462}.
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Subcellular Localization |
Cytoplasm. Cytoplasm, P-body.
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Disease Associations |
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. {ECO:0000269PubMed:22306653}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0000291
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nuclear-transcribed mRNA catabolic process, exonucleolytic
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GO:0007067
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mitotic nuclear division
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GO:0008285
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negative regulation of cell proliferation
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GO:0010587
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miRNA catabolic process
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GO:0019827
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stem cell maintenance
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GO:0034427
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nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
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GO:0051306
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mitotic sister chromatid separation
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GO:0090501
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RNA phosphodiester bond hydrolysis
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GO:0090503
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RNA phosphodiester bond hydrolysis, exonucleolytic
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GO:1990074
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polyuridylation-dependent mRNA catabolic process
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IYB7
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PhosphoSite |
PhosphoSite-Q8IYB7
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TrEMBL |
C9JGP4
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UniProt Splice Variant |
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Entrez Gene |
129563
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UniGene |
Hs.732236
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RefSeq |
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HUGO |
HGNC:28648
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OMIM |
614184
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CCDS |
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HPRD |
14619
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IMGT |
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EMBL |
AC013435
AC019130
AC068134
AC093374
AC105461
AC138658
AF443854
AK094293
AL834174
BC026166
BC036113
BX648325
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GenPept |
AAH26166
AAH36113
AAP97321
AAX82031
AAY24086
BAC04324
CAH10545
CAH10694
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