PLDN

BLOC1S6
Identifiers
Aliases	BLOC1S6 , BLOS6, HPS9, PA, PALLID, PLDN, biogenesis of lysosomal organelles complex 1 subunit 6
External IDs	OMIM: 604310 MGI: 1927580 HomoloGene: 40841 GeneCards: BLOC1S6
Gene location (Human)
Chr.	Chromosome 15 (human)
End	45,615,945 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	122,591,395 bp
RNA expression pattern
	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
	; ;
	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
	26258
	18457
	ENSG00000104164
	ENSMUSG00000005804
	Q9UL45
	Q9R0C0
	NM_001311255 ; NM_001311256 ; NM_012388
	NM_019788
	NP_001298184 ; NP_001298185 ; NP_036520
	NP_062762
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 13, 2023

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:

Related Research Articles

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene. It is part of the red blood cell cytoskeleton.

Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. In humans, dysbindin is encoded by the DTNBP1 gene.

BLOC-1 or biogenesis of lysosome-related organelles complex 1 is a ubiquitously expressed multisubunit protein complex in a group of complexes that also includes BLOC-2 and BLOC-3. BLOC-1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. These organelles are called LROs which are apparent in specific cell-types, such as melanocytes. The importance of BLOC-1 in membrane trafficking appears to extend beyond such LROs, as it has demonstrated roles in normal protein-sorting, normal membrane biogenesis, as well as vesicular trafficking. Thus, BLOC-1 is multi-purposed, with adaptable function depending on both organism and cell-type.

Ras-related protein Rab-9A is a protein that in humans is encoded by the RAB9A gene.

Methylosome subunit pICln is a protein that in humans is encoded by the CLNS1A gene.

SNARE-associated protein Snapin is a protein that in humans is encoded by the SNAPIN gene.

Syntaxin-12 is a protein that in humans is encoded by the STX12 gene.

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.

AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.

Branched chain ketoacid dehydrogenase kinase (BCKDK) is an enzyme encoded by the BCKDK gene on chromosome 16. This enzyme is part of the mitochondrial protein kinases family and it is a regulator of the valine, leucine, and isoleucine catabolic pathways. BCKDK is found in the mitochondrial matrix and the prevalence of it depends on the type of cell. Liver cells tend to have the lowest concentration of BCKDK, whereas skeletal muscle cells have the highest amount. Abnormal activity of this enzyme often leads to diseases such as maple syrup urine disease and cachexia.

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.

Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.

Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.

BLOC-3 or biogenesis of lysosome-related organelles complex 3 is a ubiquitously expressed multisubunit protein complex.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000104164 - Ensembl, May 2017
1 2 3 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.
1 2 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.
1 2 "Entrez Gene: PLDN pallidin homolog (mouse)".
1 2 3 4 5 6 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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000104164 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005804 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10610180-5] 1 2 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.

[entrez-6] 1 2 "Entrez Gene: PLDN pallidin homolog (mouse)".

[pmid15102850-7] 1 2 3 4 5 6 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.

[pmid12019270-8] 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.

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PLDN

Contents

Function

Interactions

Related Research Articles

References

Further reading