The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

Nat Genet. 1999 Nov;23(3):329-32. doi: 10.1038/15507.


Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. pa animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha1-antitrypsin activity deficiency and abnormal otolith formation. As with other mouse mutants of this class, characterization of pa mice suggests a defect in organelle biosynthesis. Here we describe the physical mapping, positional cloning, and mutational and functional analysis of the gene that is defective in pa mice. It encodes a ubiquitously expressed, highly charged 172-amino-acid protein (termed pallidin) with no homology to known proteins. We detected a nonsense mutation at codon 69 of this gene in the pallid mutant. In a yeast two-hybrid screen, we discovered that pallidin interacts with syntaxin 13, a t-SNARE protein that mediates vesicle-docking and fusion. We confirmed this interaction by co-immunoprecipitation assay. Immunofluorescence studies corroborate that the cellular distribution of pallidin overlaps that of syntaxin 13. Whereas the mocha and pearl SPD mutants have defects in Ap-3, our findings suggest that pa SPD mutants are defective in a more downstream event of vesicle-trafficking: namely, vesicle-docking and fusion.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Cell Line
  • Chromosome Mapping
  • Chromosomes / genetics
  • Cloning, Molecular
  • Fluorescent Antibody Technique
  • Intracellular Membranes / metabolism
  • Intracellular Signaling Peptides and Proteins
  • Lectins
  • Membrane Fusion
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation
  • Open Reading Frames / genetics
  • Platelet Storage Pool Deficiency / genetics*
  • Platelet Storage Pool Deficiency / metabolism
  • Precipitin Tests
  • Protein Binding
  • Qa-SNARE Proteins
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Two-Hybrid System Techniques


  • BLOC1S6 protein, human
  • Bloc1s6 protein, mouse
  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Lectins
  • Membrane Proteins
  • Qa-SNARE Proteins
  • RNA, Messenger

Associated data

  • GENBANK/AF079530
  • GENBANK/AF080470
  • GENBANK/AF082571
  • GENBANK/AF082572
  • GENBANK/AF082573
  • GENBANK/AF082574