USB1, U6 snRNA biogenesis phosphodiesterase 1

USB1, U6 snRNA biogenesis phosphodiesterase 1

• 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]

• Gene Synonyms (U6 snRNA phosphodiesterase, HVSL motif containing 1, U six biogenesis 1, U6 snRNA biogenesis 1, UPF0406 protein C16orf57, mutated in poikiloderma with neutropenia protein 1, putative U6 snRNA phosphodiesterase, C16orf57, HVSL1, Mpn1, PN, hUsb1,)
• NCBI Gene ID: 79650
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9BQ65
  UNIPROT ID#>>A0A024R6V6
  UNIPROT ID#>>H3BNM8
  UNIPROT ID#>>H3BN52
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

U6 snRNA biogenesis phosphodiesterase 1 interacts with:

• coiled-coil domain containing 12
  CWF19 like cell cycle control factor 2
  kinetochore localized astrin (SPAG5) binding protein
  small integral membrane protein 12
  sorting nexin 27
  translocase of outer mitochondrial membrane 5
  WD repeat domain 83

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.