PLDN

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

Contents

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

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<span class="mw-page-title-main">Dysbindin</span> Protein

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.

<span class="mw-page-title-main">RAB9A</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">CLNS1A</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">SNAPAP</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">STX12</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">HPS1</span> Protein-coding gene in humans

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

<span class="mw-page-title-main">HPS4</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">AP3S2</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">HPS3</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">HPS5</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">BCKDK</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">BLOC1S2</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">BLOC1S1</span> Protein-coding gene in humans

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

<span class="mw-page-title-main">MUTED</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">CNO (gene)</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">HPS6</span> Protein found in humans

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.

<span class="mw-page-title-main">Dystrobrevin beta</span> Protein-coding gene in the species Homo sapiens

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

Further reading