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Tbio
USB1
U6 snRNA phosphodiesterase

Protein Summary
Description
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. 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 Accession IDs
Gene Name
Ensembl ID
  • ENST00000219281
  • ENSP00000219281
  • ENSG00000103005
  • ENST00000423271
  • ENSP00000409792
  • ENST00000539737
  • ENSP00000446143

Symbol
  • C16orf57
  • PN
  • Mpn1
  • HVSL1
  • hUsb1
  • C16orf57
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
small molecule perturbation
0.72
transcription factor binding site profile
0.71
cell line
0.69
cell type or tissue
0.63
microRNA
0.63


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 81.46   (req: < 5)
Gene RIFs: 16   (req: <= 3)
Antibodies: 111   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 81.46   (req: >= 5)
Gene RIFs: 16   (req: > 3)
Antibodies: 111   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0