Hermansky-Pudlak syndrome 1 protein (HPS1) Recombinant Protein | HPS1 recombinant protein

Recombinant Human Hermansky-Pudlak syndrome 1 protein (HPS1)

Cat. Num. AAA1349022

• Gene Names: HPS1; HPS
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Hermansky-Pudlak syndrome 1 protein (HPS1); Recombinant Human Hermansky-Pudlak syndrome 1 protein (HPS1); Hermansky-Pudlak syndrome 1 protein; HPS1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-324aa; Full Length of Isoform III
• Sequence: MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGEDRRKAGGNNS
• Sequence Length: 700

• Species: Homo sapiens (Human)
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

SDS-PAGE

Related Product Information for HPS1 recombinant protein

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

Product Categories/Family for HPS1 recombinant protein

Signal Transduction

NCBI and Uniprot Product Information

• NCBI GI #: 33286416
• NCBI GeneID: 3257
• NCBI Accession #: NP_000186.2
• NCBI GenBank Nucleotide #: NM_000195.3
• UniProt Accession #: Q92902; O15402; O15502; Q5TAA3; Q8WXE5; A8MRT2
• Molecular Weight: 63.5 kDa
• NCBI Official Full Name: Hermansky-Pudlak syndrome 1 protein isoform a
• NCBI Official Synonym Full Names: Hermansky-Pudlak syndrome 1
• NCBI Official Symbol: HPS1
• NCBI Official Synonym Symbols: HPS
• NCBI Protein Information: Hermansky-Pudlak syndrome 1 protein
• UniProt Protein Name: Hermansky-Pudlak syndrome 1 protein
• Protein Family: Hermansky-Pudlak syndrome 1 protein
• UniProt Gene Name: HPS1
• UniProt Synonym Gene Names: HPS
• UniProt Entry Name: HPS1_HUMAN

NCBI Description

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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]

Uniprot Description

HPS1: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 10q23.1-q23.3

Cellular Component: integral to plasma membrane; lysosome; cytoplasmic membrane-bound vesicle; cytoplasm

Molecular Function: protein dimerization activity; protein binding

Biological Process: secretion of lysosomal enzymes; visual perception; lysosome organization and biogenesis; retina development in camera-type eye; melanocyte differentiation; blood coagulation; positive regulation of natural killer cell activation; eye pigmentation

Disease: Hermansky-pudlak Syndrome 1