Human PLDN Recombinant Protein (RPPB4259)
- SKU:
- RPPB4259
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q9UL45
Description
| Product Name: | Human PLDN Recombinant Protein |
| Product Code: | RPPB4259 |
| Size: | 10µg |
| Species: | Human |
| Target: | PLDN |
| Synonyms: | Pallidin protein homolog (mouse), PA, HPS9, PALLID, syntaxin 13-interacting protein pallid. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The PLDN solution (1mg/1ml) contains 20mM Tris-HCl buffer (pH 8.0), 100mM Nacl, 2mM DTT and 10% 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 MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE QLAEGLLSHY LPDLQRSKQA LQELTQNQVV LLDTLEQEIS KFKECHSMLD INALFAEAKH YHAKLVNIRK EMLMLHEKTS KLKKRALKLQ QKRQKEELER EQQREKEFER EKQLTARPAK RM |
Pallidin is involved in intracellular vesicle trafficking. PLDN cooperates with Syntaxin 13 that facilitates intracellular membrane fusion. A Few alternatively spliced transcript variations of this gene have been discovered however the full-length nature of several of these variants has not been determined. PLDN takes part in the creation of lysosome-related organelles, for example melanosomes and platelet-dense granules. PLDN is known to cooperate with Dysbindin, BLOC1S1, STX12, CNO, MUTED, SNAPAP and BLOC1S2.
PLDN Human Recombinant produced in E. coli is a single polypeptide chain containing 192 amino acids (1-172) and having a molecular mass of 21.9kDa.PLDN is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | PLDN: Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Defects in PLDN are the cause of Hermansky-Pudlak syndrome type 9 (HPS9). A form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 15q21.1 Cellular Component: nucleoplasm; SNARE complex; transport vesicle; extrinsic to membrane; cytoplasm; cytosol; endosome Molecular Function:actin filament binding; identical protein binding; protein binding; protein homodimerization activity; syntaxin binding Biological Process: positive regulation of pigment cell differentiation; secretion of lysosomal enzymes; melanosome organization and biogenesis; anterograde synaptic vesicle transport; melanocyte differentiation; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; blood coagulation; melanosome transport; positive regulation of natural killer cell activation; neurite development; synaptic vesicle docking during exocytosis Disease: Hermansky-pudlak Syndrome 9 |
| NCBI Summary: | The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015] |
| UniProt Code: | Q9UL45 |
| NCBI GenInfo Identifier: | 41017511 |
| NCBI Gene ID: | 26258 |
| NCBI Accession: | Q9UL45.1 |
| UniProt Related Accession: | Q9UL45 |
| Molecular Weight: | 20 kDa |
| NCBI Full Name: | Biogenesis of lysosome-related organelles complex 1 subunit 6 |
| NCBI Synonym Full Names: | biogenesis of lysosomal organelles complex 1 subunit 6 |
| NCBI Official Symbol: | BLOC1S6�� |
| NCBI Official Synonym Symbols: | PA; HPS9; PLDN; BLOS6; PALLID�� |
| NCBI Protein Information: | biogenesis of lysosome-related organelles complex 1 subunit 6 |
| UniProt Protein Name: | Biogenesis of lysosome-related organelles complex 1 subunit 6 |
| UniProt Synonym Protein Names: | Pallid protein homolog; Pallidin; Syntaxin 13-interacting protein |
| UniProt Gene Name: | BLOC1S6�� |
| UniProt Entry Name: | BL1S6_HUMAN |
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