Human Gene USB1 (uc002emz.3) Description and Page Index
Description: Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 1, mRNA. RefSeq Summary (NM_024598): 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]. Transcript (Including UTRs) Position: hg19 chr16:58,035,277-58,055,527 Size: 20,251 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr16:58,035,388-58,054,149 Size: 18,762 Coding Exon Count: 7
ID:USB1_HUMAN DESCRIPTION: RecName: Full=Putative U6 snRNA phosphodiesterase; Short=hUsb1; EC=3.1.4.-; FUNCTION: 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. SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in USB1 are the cause of poikiloderma with neutropenia (PN) [MIM:604173]. 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. SIMILARITY: Belongs to the USB1 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF09749 - Uncharacterised conserved protein
ModBase Predicted Comparative 3D Structure on Q9BQ65
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.