SLFN14
entrez
342618
canonical
uniprot
P0C7P3
canonical
ensembl
ENSG00000236320
resolver
ensp
ENSP00000391101
resolver
ensp
ENSP00000501524
resolver
genesymbol
SLFN14
resolver
hgnc
HGNC:32689
resolver
uniprot
B2RTW9
resolver
uniprot_entry
SLN14_HUMAN
resolver
uniprot_sec
B2RTW9
resolver
amino_acid_sequence
MESLKTDTEMPYPEVIVDVGRVIFGEENRKKMTNSCLKRSENSRIIRAICALLNSGGGVIKAEIDDKTYSYQCHGLGQDLETSFQKLLPSGSQKYLDYMQQGHNLLIFVKSWSPDVFSLPLRICSLRSNLYRRDVTSAINLSASSALELLREKGFRAQRGRPRVKKLHPQQVLNRCIQEEEDMRILASEFFKKDKLMYKEKLNFTESTHVEFKRFTTKKVIPRIKEMLPHYVSAFANTQGGYVLIGVDDKSKEVVGCKWEKVNPDLLKKEIENCIEKLPTFHFCCEKPKVNFTTKILNVYQKDVLDGYVCVIQVEPFCCVVFAEAPDSWIMKDNSVTRLTAEQWVVMMLDTQSAPPSLVTDYNSCLISSASSARKSPGYPIKVHKFKEALQRHLFPVTQEEVQFKPESLCKKLFSDHKELEGLMKTLIHPCSQGIVIFSRSWAGDVGFRKEQNVLCDALLIAVNSPVVLYTILIDPNWPGGLEYARNTAHQLKQKLQTVGGYTGKVCIIPRLIHLSSTQSRPGEIPLRYPRSYRLADEEEMEDLLQALVVVSLSSRSLLSDQMGCEFFNLLIMEQSQLLSESLQKTRELFIYCFPGVRKTALAIKIMEKIKDLFHCKPKEILYVCESDSLKDFVTQQTTCQAVTRKTFMQGEFLKIKHIVMDETENFCSKYGNWYMKAKNITHPKAKGTGSENLHHGILWLFLDPFQIHHADVNGLPPPSAQFPRKTITSGIHCALEIAKVMKEEMKRIKENPPSNMSPDTLALFSETAYEEATCAQALPGVCETKTNLTTEQIANYVARKCHSLFQCGYLPKDIAILCRRGEDRGRYRLALLKAMELIETHRPSEVVFSPATGVWGSHIVLDSIQQFSGLERTVVFGLSPECDQSEEFHKLCFASRAIKHLYLLYEKRAAY
uniprot
proteins
disease_involvement
DISEASE: Bleeding disorder, platelet-type, 20 (BDPLT20) [MIM:616913]: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. {ECO:0000269|PubMed:26280575, ECO:0000269|PubMed:26769223}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: [Protein SLFN14]: Shows no ribosome-associated and endoribonuclease activities. {ECO:0000269|PubMed:25996083}.; FUNCTION: [C-terminally truncated SLFN14 endoribonuclease]: Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension. {ECO:0000250|UniProtKB:G1SRW8, ECO:0000269|PubMed:25996083, ECO:0000269|PubMed:26769223, ECO:0000305|PubMed:25996083}.
uniprot
proteins
mass_dalton
103907
uniprot
proteins
mutagenesis
MUTAGEN 248; /note="D->A: Reduces endoribonuclease activity."; /evidence="ECO:0000269|PubMed:25996083"; MUTAGEN 249; /note="D->A: Abolishes endoribonuclease activity."; /evidence="ECO:0000269|PubMed:25996083
uniprot
proteins
protein_family
Schlafen family
uniprot
proteins
protein_family
Subgroup III subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
20956525
uniprot
proteins
pubmed
25996083
uniprot
proteins
pubmed
26280575
uniprot
proteins
pubmed
26769223
uniprot
proteins
sequence_length
912
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Protein SLFN14]: Nucleus {ECO:0000269|PubMed:25996083, ECO:0000269|PubMed:26280575}.
uniprot
proteins