Recombinant Human USB1 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: USB1-5640H
• Product Overview: C16orf57 MS Standard C13 and N15-labeled recombinant protein (NP_078874) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 30.3 kDa
• AA Sequence: MSAAPLVGYSSSGSEDESEDGMRTR PGDGSHRRGQSPLPRQRFPVPDSVL NMFPGTEEGPEDDSTKHGGRVRTFP HERGNWATHVYVPYEAKEEFLDLLD VLLPHAQTYVPRLVRMKVFHLSLSQ SVVLRHHWILPFVQALKARMTSFHR FFFTANQVKIYTNQEKTRTFIGLEV TSGHAQFLDLVSEVDRVMEEFNLTT FYQDPSFHLSLAWCVGDARLQLEGQ CLQELQAIVDGFEDAEVLLRVHTEQ VRCKSGNKFFSMPLKTRTRPLEQKL ISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: USB1 U6 snRNA biogenesis phosphodiesterase 1 [ Homo sapiens (human) ]
• Official Symbol: USB1
• Synonyms: USB1; U6 snRNA biogenesis phosphodiesterase 1; PN; Mpn1; HVSL1; hUsb1; C16orf57; 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
• Gene ID: 79650
• mRNA Refseq: NM_024598
• Protein Refseq: NP_078874
• MIM: 613276
• UniProt ID: Q9BQ65