Recombinant Human Hermansky-Pudlak syndrome 1 protein (HPS1) | CSB-EP856438HU

Recombinant Human Hermansky-Pudlak syndrome 1 protein (HPS1) | CSB-EP856438HU | Cusabio

Alternative Name(s): Hermansky Pudlak syndrome 1 protein; Hermansky Pudlak syndrome gene; Hermansky Pudlak syndrome type 1; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 1 protein; HPS; HPS1; HPS1_HUMAN; MGC5277

Gene Names: HPS1

Research Areas: Signal Transduction

Organism: Homo sapiens (Human)

AA Sequence: MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGEDRRKAGGNNS

Source: E.coli

Tag Info: N-terminal GST-tagged

Expression Region: 1-324aa

Sequence Info: Full Length of Isoform III

MW: 63.5 kDa

Purity: Greater than 90% as determined by SDS-PAGE.

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)

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.

Function: 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

Involvement in disease: Hermansky-Pudlak syndrome 1 (HPS1)

Subcellular Location:

Protein Families:

Tissue Specificity: Ubiquitous.

Paythway:

Form: Liquid or Lyophilized powder

Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Uniprot ID: Q92902

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM