Protein SLFN14
Function
Protein SLFN14
Shows no ribosome-associated and endoribonuclease activities.
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.
Involvement in disease
Bleeding disorder, platelet-type, 20
BDPLT20
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Schlafen family. Subgroup III subfamily.
Tissue Specificity
Expressed in megakaryocytes and platelets (at protein level) (PubMed:26280575). Weakly expressed in melanocytes and malignant melanoma cells (PubMed:20956525).
Cellular localization
- Protein SLFN14
- Nucleus
Alternative names
Protein SLFN14, SLFN14