BLOC1S6
Identifiers
AliasesBLOC1S6, BLOS6, HPS9, PA, PALLID, PLDN, biogenesis of lysosomal organelles complex 1 subunit 6
External IDsOMIM: 604310 MGI: 1927580 HomoloGene: 40841 GeneCards: BLOC1S6
Orthologs
SpeciesHumanMouse
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 MbChr 2: 122.58 – 122.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  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


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