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]
^ abcdefStarcevic 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.
Further readingedit
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. PMC139146. 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. PMC2860733. 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.
This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.
pldn, pallidin, protein, that, humans, encoded, gene, bloc1s6identifiersaliasesbloc1s6, blos6, hps9, pallid, biogenesis, lysosomal, organelles, complex, subunit, 6external, idsomim, 604310, 1927580, homologene, 40841, genecards, bloc1s6gene, location, human, c. Pallidin is a protein that in humans is encoded by the PLDN gene 5 6 BLOC1S6IdentifiersAliasesBLOC1S6 BLOS6 HPS9 PA PALLID PLDN biogenesis of lysosomal organelles complex 1 subunit 6External IDsOMIM 604310 MGI 1927580 HomoloGene 40841 GeneCards BLOC1S6Gene location Human Chr Chromosome 15 human 1 Band15q21 1Start45 587 214 bp 1 End45 615 945 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 E5 2 60 66 cMStart122 580 423 bp 2 End122 591 395 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inpancreatic epithelial cellpancreatic ductal cellendothelial cellgerminal epitheliumbone marrow cellssuperficial temporal arteryBrodmann area 23parietal pleuraexternal globus pallidussynovial membraneTop expressed ininterventricular septummyocardium of ventriclesacculesternocleidomastoid muscleprimitive streakbarrel cortextriceps brachii muscleabdominal wallvastus lateralis musclesoleus muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein homodimerization activity actin filament binding protein binding identical protein binding syntaxin bindingCellular componentcytoplasm cytosol membrane transport vesicle SNARE complex extrinsic component of membrane presynapse axon cytoplasm BLOC 1 complex synapseBiological processsynaptic 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 transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2625818457EnsemblENSG00000104164ENSMUSG00000005804UniProtQ9UL45Q9R0C0RefSeq mRNA NM 001311255NM 001311256NM 012388NM 019788RefSeq protein NP 001298184NP 001298185NP 036520NP 062762Location UCSC Chr 15 45 59 45 62 MbChr 2 122 58 122 59 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editThe 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 editPLDN has been shown to interact with BLOC1S1 7 BLOC1S2 7 CNO 7 Dysbindin 7 MUTED 7 8 SNAPAP 7 and STX12 5 References edit 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 Falcon Perez 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 Further reading editFalcon Perez 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 Falcon Perez 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 Toksoz 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 nbsp This article on a gene on human chromosome 15 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title PLDN amp oldid 1170039843, wikipedia, wiki, book, books, library,
