C16orf57 (USB1) (NM_024598) Human Mass Spec Standard

CAT#: PH302591

C16orf57 MS Standard C13 and N15-labeled recombinant protein (NP_078874)

Product Images

Coomassie blue staining of purified USB1 protein (Cat# TP302591). The protein was produced from HEK293T cells transfected with USB1 cDNA clone (Cat# RC202591) using MegaTran 2.0 (Cat# TT210002).

Specifications

Product Data

• Tag: C-Myc/DDK
• Species: Human
• Expression Host: HEK293
• Expression cDNA Clone or AA Sequence: RC202591
• Predicted MW: 30.3 kDa
• Protein Sequence:
  Sequence Link

  >RC202591 protein sequence
  Red=Cloning site Green=Tags(s)
  
  MSAAPLVGYSSSGSEDESEDGMRTRPGDGSHRRGQSPLPRQRFPVPDSVLNMFPGTEEGPEDDSTKHGGR
  VRTFPHERGNWATHVYVPYEAKEEFLDLLDVLLPHAQTYVPRLVRMKVFHLSLSQSVVLRHHWILPFVQA
  LKARMTSFHRFFFTANQVKIYTNQEKTRTFIGLEVTSGHAQFLDLVSEVDRVMEEFNLTTFYQDPSFHLS
  LAWCVGDARLQLEGQCLQELQAIVDGFEDAEVLLRVHTEQVRCKSGNKFFSMPLK
  
  TRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: 50 ug/ml as determined by BCA
• Labeling Method: Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
• Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3. Store at -80°C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.

Reference Data

• RefSeq: NP_078874
• RefSeq Size: 2287
• RefSeq ORF: 795
• Synonyms: C16orf57; hUsb1; HVSL1; Mpn1; PN
• Locus ID: 79650
• UniProt ID: Q9BQ65, A0A024R6V6
• Cytogenetics: 16q21
• 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. [provided by RefSeq, Mar 2011]