PLDN

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

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; OMA:BLOC1S6 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.1 Start 45,587,214 bp[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] End 122,591,395 bp[2]
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 cells 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 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
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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:

• BLOC1S1,^[7]
• BLOC1S2,^[7]
• CNO,^[7]
• Dysbindin,^[7]
• MUTED,^[7][8]
• SNAPAP,^[7] and
• STX12.^[5]