U6 SnRNA Biogenesis 1 Proteins (USB1)

USB1 encodes a protein with several conserved domains, however, its exact function is not known. Additionally we are shipping U6 SnRNA Biogenesis 1 Antibodies (38) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
USB1 79650 Q9BQ65
USB1 307643 Q5I0I5
Mouse USB1 USB1 101985 Q91W78
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Top U6 SnRNA Biogenesis 1 Proteins at antibodies-online.com

Showing 5 out of 5 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 30 to 35 Days
HOST_HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Log in to see 10 to 12 Days
Yeast Xenopus laevis His tag   1 mg Log in to see 60 to 71 Days
Yeast Cow His tag   1 mg Log in to see 60 to 71 Days
Yeast Rat His tag   1 mg Log in to see 60 to 71 Days

USB1 Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,
Rat (Rattus)

More Proteins for U6 SnRNA Biogenesis 1 (USB1) Interaction Partners

Human U6 SnRNA Biogenesis 1 (USB1) interaction partners

  1. marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 (show LIG4 Proteins) and GRHL2 (show GRHL2 Proteins) in addition to the classical dyskeratosis congenita genes and telomere length measurements.

  2. USB1 genes from myelodysplastic and myelodysplastic/myeloproliferative neoplasms and AML had 3 unreported variants, 2 in USB1 5'UTR (c.-83G>T and c.-66A>G), 1 in IVS3 (c.450-68dupT) and 1 (<1%) in IVS4 (c.587+21A>G/rs200924980) were detected.

  3. the link between Mpn1 and snRNA stability

  4. Mpn1 associates with the NineTeen Complex, a multiprotein complex that is essential for the maintenance of spliceosome integrity and efficient splicing. [Review]

  5. Data indicate that USB1 measures the appropriate length of the U6 oligo(U) tail by reading the position of a key adenine nucleotide (A102) and pausing 5 uridine residues downstream.

  6. Recombinant hMpn1 is a 3'-to-5' RNA exonuclease (show EXO1 Proteins) that removes uridines from U6 3' ends, generating terminal 2',3' cyclic phosphates in vitro.

  7. characterization of 6 Poikiloderma with Neutropenia patients and mutational repertoire of the gene; detected 2 novel C16orf57 mutations, c.232C>T and c.265 2T>G and the reported c.179delC, c.531delA and c.693 1G>T mutations; bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function

  8. We report three cases of poikiloderma with neutropenia whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis.

  9. Advanced bioinformatics predicted that C16orf57 encodes a phosphodiesterase whose putative catalytic activity is essential for its function in vivo

  10. Mutations of the C16orf57 gene permit the unification of a distinct group of genetic polikilodermal dermatoses that can be diagnosed as congenital dyskeratosis, Rothmund-Thomson syndrome, poikiloderma-neutropenia.

U6 SnRNA Biogenesis 1 (USB1) Protein Profile

Protein Summary

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.

Gene names and symbols associated with U6 SnRNA Biogenesis 1 Proteins (USB1)

  • chromosome 16 open reading frame 57 (C6H16orf57)
  • U6 snRNA biogenesis 1 (USB1)
  • U6 snRNA biogenesis 1 (Usb1)
  • U6 snRNA biogenesis 1 (usb1)
  • AA960436 protein
  • c16orf57 protein
  • C18H16orf57 protein
  • hUsb1 protein
  • HVSL1 protein
  • Mpn1 protein
  • PN protein
  • RGD1305215 protein

Protein level used designations for U6 SnRNA Biogenesis 1 Proteins (USB1)

HVSL motif containing 1 , U six biogenesis 1 , U6 snRNA phosphodiesterase , UPF0406 protein C16orf57 , mutated in poikiloderma with neutropenia protein 1 , putative U6 snRNA phosphodiesterase , UPF0406 protein C16orf57 homolog

100513409 Sus scrofa
79650 Homo sapiens
510934 Bos taurus
307643 Rattus norvegicus
101985 Mus musculus
379166 Xenopus laevis
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