HPS1 (NM_182639) Human Recombinant Protein

• Background:

  This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC) -3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

• Synonyms:

  BLOC3S1; HPS

• Gene ID:

  3257

• UniProt:

  Q92902, A0A0S2Z3U9

• Accession Number mRNA:

  NM_182639

• Chromosomal Location:

  10q24.2

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Molecular Weight:

  36.3 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  HPS1

• Species:

  Human

• Protein ID:

  NP_872577

• Overview:

  Recombinant protein of human Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 3

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/3257

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q92902

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_182639

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_872577