Human RAB27A Recombinant Protein (RPPB4355)
- SKU:
- RPPB4355
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P51159
Description
Product Name: | Human RAB27A Recombinant Protein |
Product Code: | RPPB4355 |
Size: | 25µg |
Species: | Human |
Target: | RAB27A |
Synonyms: | GS2, RAM, RAB27, GS2, HsT18676, MGC117246, RAB27A, member RAS oncogene family. |
Source: | Escherichia Coli |
Physical Appearance: | Sterile filtered colorless solution. |
Formulation: | RAB27A Human solution containing 20mM Trsi HCL pH-8, 1mM DTT, & 20% glycerol. |
Stability: | Store at 4°C if entire vial will be used within 2-4 weeks.�Store, frozen at -20°C for longer periods of time.�For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).�Avoid multiple freeze-thaw cycles. |
Purity: | Greater than 90% as determined by SDS-PAGE. |
Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MSDGDYDYLI KFLALGDSGV GKTSVLYQYT DGKFNSKFIT TVGIDFREKR VVYRASGPDG ATGRGQRIHL QLWDTAGQER FRSLTTAFFR DAMGFLLLFD LTNEQSFLNV RNWISQLQMH AYCENPDIVL CGNKSDLEDQ RVVKEEEAIA LAEKYGIPYF ETSAANGTNI SQAIEMLLDL IMKRMERCVD KSWIPEGVVR SNGHASTDQL SEEKEKGACG C |
RAB27A is part of the small GTPase superfamily, Rab family. RAB27A is membrane-bound and participates in protein transport and small GTPase mediated signal transduction. Mutations in this RAB27A are associated with Griscelli syndrome type 2. RAB27A is involved in cytotoxic granule exocytosis in lymphocytes.RAB27A is necessary for both granule maturation and granule docking and priming at the immunologic synapse.
RAB27A Human Recombinant produced in E.Coli is a single, non-glycosylated,polypeptide chain containing 241 amino acids (1-221a.a.) and having a molecular mass of 27 kDa. RAB27A protein is fused to a 20 amino acid His tag at N-terminus and is purified by standard chromatography.
UniProt Protein Function: | RAB27A: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Defects in RAB27A are a cause of Griscelli syndrome type 2 (GS2). Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. Belongs to the small GTPase superfamily. Rab family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:G protein, monomeric; G protein, monomeric, Rab Chromosomal Location of Human Ortholog: 15q15-q21.1 Cellular Component: Golgi apparatus; photoreceptor outer segment; lysosome; secretory granule membrane; apical plasma membrane; dendrite; late endosome; melanosome; secretory granule Molecular Function:GTPase activity; protein domain specific binding; protein binding; GDP binding; GTP binding; myosin V binding Biological Process: exocytosis; natural killer cell degranulation; cytotoxic T cell degranulation; melanosome localization; protein secretion; synaptic vesicle transport; melanosome transport; antigen processing and presentation; intracellular protein transport; cellular protein metabolic process; positive regulation of phagocytosis; melanocyte differentiation; Rab protein signal transduction; blood coagulation; vesicle docking during exocytosis; protein targeting; positive regulation of exocytosis Disease: Griscelli Syndrome, Type 2 |
NCBI Summary: | The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] |
UniProt Code: | P51159 |
NCBI GenInfo Identifier: | 116242744 |
NCBI Gene ID: | 5873 |
NCBI Accession: | P51159.3 |
UniProt Related Accession: | P51159 |
Molecular Weight: | |
NCBI Full Name: | Ras-related protein Rab-27A |
NCBI Synonym Full Names: | RAB27A, member RAS oncogene family |
NCBI Official Symbol: | RAB27A�� |
NCBI Official Synonym Symbols: | GS2; RAM; RAB27; HsT18676�� |
NCBI Protein Information: | ras-related protein Rab-27A |
UniProt Protein Name: | Ras-related protein Rab-27A |
UniProt Synonym Protein Names: | GTP-binding protein Ram |
UniProt Gene Name: | RAB27A�� |
UniProt Entry Name: | RB27A_HUMAN |