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BLOC1S6

Identifiers

BLOC1S6, BLOS6, HPS9, PA, PALLID, PLDN, biogenesis of lysosomal organelles complex 1 subunit 6

External IDs

OMIM: 604310; MGI: 1927580; HomoloGene: 40841; GeneCards: BLOC1S6; OMA:BLOC1S6 - orthologs

Gene location (Human)

Chr.	Chromosome 15 (human)^[1]

Band	15q21.1	Start	45,587,214 bp^[1]
Band	15q21.1	End	45,615,945 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2 E5\|2 60.66 cM	Start	122,580,423 bp^[2]
Band	2 E5\|2 60.66 cM	End	122,591,395 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

pancreatic epithelial cell

pancreatic ductal cell

endothelial cell

germinal epithelium

bone marrow cells

superficial temporal artery

Brodmann area 23

parietal pleura

external globus pallidus

synovial membrane

Top expressed in

interventricular septum

myocardium of ventricle

saccule

sternocleidomastoid muscle

primitive streak

barrel cortex

triceps brachii muscle

abdominal wall

vastus lateralis muscle

soleus muscle

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

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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Pallidin is a protein that in humans is encoded by the PLDN gene.^[5]^[6]

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.^[6]

Interactions

PLDN has been shown to interact with:

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104164 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005804 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Huang L, Kuo YM, Gitschier J (Dec 1999). "The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency". Nat Genet. 23 (3): 329–32. doi:10.1038/15507. PMID 10610180. S2CID 22843205.
^ ^a ^b "Entrez Gene: PLDN pallidin homolog (mouse)".
^ ^a ^b ^c ^d ^e ^f Starcevic M, Dell'Angelica EC (Jul 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.
^ Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (Aug 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.

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.

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This page was last edited on 12 August 2023, at 21:28

PLDN

From Wikipedia, the free encyclopedia

Function

Interactions

References

Further reading