NP_001182231.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
20,802 Da
NCBI Official Full Name
U6 snRNA phosphodiesterase isoform 2
NCBI Official Synonym Full Names
U6 snRNA biogenesis phosphodiesterase 1
NCBI Official Synonym Symbols
PN; Mpn1; HVSL1; hUsb1; C16orf57 [Similar Products]
NCBI Protein Information
U6 snRNA phosphodiesterase
UniProt Protein Name
U6 snRNA phosphodiesterase
UniProt Synonym Gene Names
NCBI Summary for USB1
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
UniProt Comments for USB1
Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate.
Research Articles on USB1
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Products associated with anti-USB1 antibody
Diseases associated with anti-USB1 antibody
Organs/Tissues associated with anti-USB1 antibody
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