Size: 200ug. Other sizes are also available. Please Inquire.
In Stock: No
Lead time: 10-20 working days
Research Topic: Signal Transduction
Uniprot ID: Q92902
Gene Names: HPS1
Organism: Homo sapiens (Human)
AA Sequence: MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGEDRRKAGGNNS
Expression Region: 1-324aa
Sequence Info: Full Length of Isoform III
Tag Info: N-terminal GST-tagged
MW: 63.5 kDa
Relevance: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38
Reference: "Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles." Oh J., Bailin T., Fukai K., Feng G.H., Ho L., Mao J.-I., Frenk E., Tamura N., Spritz R.A. Nat. Genet. 14:300-306(1996)
Purity: Greater than 90% as determined by SDS-PAGE.
Storage Buffer: Tris-based buffer，50% glycerol
Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20℃/-80℃. The shelf life of lyophilized form is 12 months at -20℃/-80℃.
Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.