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Protein Page:
USB1 (human)

USB1 Putative phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as a ribonuclease (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. Defects in USB1 are the cause of poikiloderma with neutropenia (PN). PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome. Belongs to the USB1 family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 16q21
Cellular Component: intercellular bridge; nucleus
Molecular Function: 3'-5'-exoribonuclease activity
Biological Process: RNA splicing
Disease: Poikiloderma With Neutropenia
Reference #:  Q9BQ65 (UniProtKB)
Alt. Names/Synonyms: C16orf57; chromosome 16 open reading frame 57; CP057; FLJ13154; HVSL motif containing 1; HVSL1; hypothetical protein LOC79650; PN; UPF0406 protein C16orf57
Gene Symbols: USB1
Molecular weight: 30,268 Da
Basal Isoelectric point: 6.06  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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