DIS3L2
entrez
129563
canonical
uniprot
Q8IYB7
canonical
ensembl
ENSG00000144535
resolver
ensp
ENSP00000273009
resolver
ensp
ENSP00000315569
resolver
ensp
ENSP00000386594
resolver
genesymbol
DIS3L2
resolver
genesymbol_syn
FAM6A
resolver
hgnc
HGNC:28648
resolver
uniprot
Q53S79
resolver
uniprot
Q580W6
resolver
uniprot
Q5XKH0
resolver
uniprot
Q69YG5
resolver
uniprot
Q6AW99
resolver
uniprot
Q7Z4T6
resolver
uniprot
Q8N9K9
resolver
uniprot_entry
DI3L2_HUMAN
resolver
uniprot_sec
Q53S79
resolver
uniprot_sec
Q580W6
resolver
uniprot_sec
Q5XKH0
resolver
uniprot_sec
Q69YG5
resolver
uniprot_sec
Q6AW99
resolver
uniprot_sec
Q7Z4T6
resolver
uniprot_sec
Q8N9K9
resolver
amino_acid_sequence
MSHPDYRMNLRPLGTPRGVSAVAGPHDIGASPGDKKSKNRSTRGKKKSIFETYMSKEDVSEGLKRGTLIQGVLRINPKKFHEAFIPSPDGDRDIFIDGVVARNRALNGDLVVVKLLPEEHWKVVKPESNDKETEAAYESDIPEELCGHHLPQQSLKSYNDSPDVIVEAQFDGSDSEDGHGITQNVLVDGVKKLSVCVSEKGREDGDAPVTKDETTCISQDTRALSEKSLQRSAKVVYILEKKHSRAATGFLKLLADKNSELFRKYALFSPSDHRVPRIYVPLKDCPQDFVARPKDYANTLFICRIVDWKEDCNFALGQLAKSLGQAGEIEPETEGILTEYGVDFSDFSSEVLECLPQGLPWTIPPEEFSKRRDLRKDCIFTIDPSTARDLDDALSCKPLADGNFKVGVHIADVSYFVPEGSDLDKVAAERATSVYLVQKVVPMLPRLLCEELCSLNPMSDKLTFSVIWTLTPEGKILDEWFGRTIIRSCTKLSYEHAQSMIESPTEKIPAKELPPISPEHSSEEVHQAVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPEQALLRRHPPPQTRMLSDLVEFCDQMGLPVDFSSAGALNKSLTQTFGDDKYSLARKEVLTNMCSRPMQMALYFCSGLLQDPAQFRHYALNVPLYTHFTSPIRRFADVLVHRLLAAALGYRERLDMAPDTLQKQADHCNDRRMASKRVQELSTSLFFAVLVKESGPLESEAMVMGILKQAFDVLVLRYGVQKRIYCNALALRSHHFQKVGKKPELTLVWEPEDMEQEPAQQVITIFSLVEVVLQAESTALKYSAILKRPGTQGHLGPEKEEEESDGEPEDSSTS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22306653, ECO:0000269|PubMed:23486540, ECO:0000269|PubMed:23613427, ECO:0000269|PubMed:28328139}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.13.-
uniprot
proteins
function
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:0000255|HAMAP-Rule:MF_03045, ECO:0000269|PubMed:23756462, ECO:0000269|PubMed:24141620}.
uniprot
proteins
mass_dalton
99279
uniprot
proteins
mutagenesis
MUTAGEN 391; /note="D->N: Loss of exoribonuclease activity."; /evidence="ECO:0000269|PubMed:23756462, ECO:0000269|PubMed:24141620
uniprot
proteins
protein_family
DIS3L2 subfamily
uniprot
proteins
protein_family
RNR ribonuclease family
uniprot
proteins
pubmed
11352565
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17373680
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22306653
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23486540
uniprot
proteins
pubmed
23613427
uniprot
proteins
pubmed
23756462
uniprot
proteins
pubmed
24141620
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28328139
uniprot
proteins
sequence_length
885
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24141620}. Cytoplasm, P-body.
uniprot
proteins