BLOC-1 subunit 6

BLOC1S6
Identifiers
Aliases	BLOC1S6, BLOS6, HPS9, PA, PALLID, PLDN, biogenesis of lysosomal organelles complex 1 subunit 6
External IDs	OMIM: 604310; MGI: 1927580; GeneCards: BLOC1S6
Gene location (Human) Chr. Chromosome 15 (human) Band 15q21.1 Start 45,587,214 bp End 45,615,945 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 E5|2 60.66 cM Start 122,580,423 bp End 122,591,395 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell epithelium of colon pancreatic ductal cell endothelial cell germinal epithelium bone marrow cell pars compacta superficial temporal artery Brodmann area 23 parietal pleura Top expressed in interventricular septum otic vesicle myocardium of ventricle saccule stroma of bone marrow sternocleidomastoid muscle primitive streak barrel cortex triceps brachii muscle abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity actin filament binding protein binding identical protein binding syntaxin binding Cellular component cytoplasm cytosol membrane transport vesicle SNARE complex extrinsic component of membrane presynapse axon cytoplasm BLOC-1 complex synapse Biological process synaptic vesicle docking positive regulation of pigment cell differentiation melanosome organization melanosome transport endosome to melanosome transport anterograde axonal transport neuron projection development anterograde synaptic vesicle transport Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 26258 18457 Ensembl ENSG00000104164 ENSMUSG00000005804 UniProt Q9UL45 Q9R0C0 RefSeq (mRNA) NM_001311255 NM_001311256 NM_012388 NM_019788 RefSeq (protein) NP_001298184 NP_001298185 NP_036520 NP_062762 Location (UCSC) Chr 15: 45.59 – 45.62 Mb Chr 2: 122.58 – 122.59 Mb PubMed search
Wikidata
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BLOC-1 subunit 6 (also called Pallidin) is a protein that in humans is encoded by the BLOC1S6 gene (previously PLDN). This protein is part of Biogenesis of lysosome-related organelles complex 1 (BLOC-1), which is a protein complex which is involved in the biogenesis of the lysosome-related organelles (LROs) like dense granules and melanosomes.

Function

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Interactions

PLDN has been shown to interact with:

• BLOC1S1,
• BLOC1S2,
• CNO,
• Dysbindin,
• MUTED,
• SNAPAP, and
• STX12.

Further reading

• Falcón-Pérez JM, Dell'Angelica EC (2002). "The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis". Pigment Cell Res. 15 (2): 82–6. doi:10.1034/j.1600-0749.2002.1r082.x. PMID 11936273.
• Korsgren C, Cohen CM (1988). "Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3". J. Biol. Chem. 263 (21): 10212–8. doi:10.1016/S0021-9258(19)81500-4. PMID 2968981.
• Azim AC, Marfatia SM, Korsgren C, Dotimas E, Cohen CM, Chishti AH (1996). "Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins". Biochemistry. 35 (9): 3001–6. doi:10.1021/bi951745y. PMID 8608138.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Risinger MA, Korsgren C, Cohen CM (1997). "Role of N-myristylation in targeting of band 4.2 (pallidin) in nonerythroid cells". Exp. Cell Res. 229 (2): 421–31. doi:10.1006/excr.1996.0387. PMID 8986625.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules". J. Biol. Chem. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID 12019270.
• Moriyama K, Bonifacino JS (2003). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles". Traffic. 3 (9): 666–77. doi:10.1034/j.1600-0854.2002.30908.x. PMID 12191018.
• Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)". Blood. 101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID 12576321.
• Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nat. Genet. 35 (1): 84–9. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
• Starcevic M, Dell'Angelica EC (2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". J. Biol. Chem. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.