The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

Bloc1s6  -  biogenesis of lysosomal organelles complex...

Mus musculus

Synonyms: BLOC-1, BLOC-1 subunit, BLOC-1 subunit 6, Biogenesis of lysosome-related organelles complex 1 subunit 6, P2, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Pldn


High impact information on Pldn

  • 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 [1].
  • 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 [1].
  • As with other mouse mutants of this class, characterization of pa mice suggests a defect in organelle biosynthesis [1].
  • Cell-free transcription directed by the 422 adipose P2 gene promoter: activation by the CCAAT/enhancer binding protein [6].
  • Adipocyte P2 gene: developmental expression and homology of 5'-flanking sequences among fat cell-specific genes [7].

Chemical compound and disease context of Pldn


Biological context of Pldn


Anatomical context of Pldn

  • Steady-state pallidin protein levels were reduced in fibroblasts derived from muted and reduced pigmentation mice, suggesting that the genes defective in these two mutant strains could encode components of BLOC-1 that are required for pallidin stability [11].
  • In accordance with these fibrous changes, both connective-tissue-type mast cell counts and chymase activity were higher in tight-skin skin than in Pallid skin up to 20 wk of age [14].
  • At ages 10 and 20 wk, the hydroxyproline concentration in tight-skin dermis was higher than that in Pallid [14].
  • However, RA mechanoreceptor neurons in Tsk and Pallid skin did not differ from those in C57 skin with regard to their sensitivity to the rate of change of stress or to the rate of change of incremental strain energy [15].
  • Cutaneous RA afferent neurons were recorded in 3 species of mice (Tsk, Pallid, and C57BL6) whose skin has different viscoelastic properties [15].

Associations of Pldn with chemical compounds

  • This review focuses on the product of the pallidin (Pldn) gene, one of a number of genes that in mice are associated with pigmentation defects and platelet dense granule deficiency [13].
  • However, the tum- peptide lacks the P2 proline anchor [4].
  • Interestingly, the p2Ca peptide that is immunodominant in allorecognition of Ld also lacks the P2 proline anchor and has been shown to depend on residues near the carboxyl terminus for binding to Ld [4].
  • Competitive enzyme-linked immunosorbent assays and immunoblot assays of cyanogen bromide-digested P2 showed that two antibodies to the P2 protein of strain 1479 recognized different epitopes on the molecule [16].
  • Our results suggest that the lysine residues at positions 129, 141, and 147 in P1, the arginine residue at position 227, and glutamic acid at position 230 in P2 might play an important role in the trimolecular interaction [17].

Other interactions of Pldn

  • We assessed the mechanical and nonlinear properties of the respiratory system, the alveolar structure, and the levels of microfibril-associated glycoproteins (MAGP) 1 and 2 in Tsk mice with developmental emphysema; in Pa mice, which are thought to develop adult onset emphysema; and their background, the C57BL/6 mice, at an age of 7 wk [2].
  • We report here evidence that Epb4.2 and pa are not allelic [18].
  • An in situ hybridization study confirmed the higher expression of mouse mast cell protease-4 by connective-tissue-type mast cells in tight-skin skin than Pallid skin [14].
  • C57 BL/6J (control), pa, Tsk, and bg mice were killed when they were 1, 12, and 24 months old [19].
  • The tight-skin (Tsk) mutation has been mapped to mouse chromosome 2 between the visible markers pallid (pa) and agouti (a) [20].

Analytical, diagnostic and therapeutic context of Pldn

  • Immunofluorescence studies corroborate that the cellular distribution of pallidin overlaps that of syntaxin 13 [1].
  • Size-exclusion chromatography and sedimentation velocity analyses indicated that the bulk of cytosolic pallidin is a component of an asymmetric protein complex with a molecular mass of approximately 200 kDa [11].
  • Age-matched (10-wk-old) tight-skin and Pallid were quantified for their mRNA of connective-tissue-type mast-cell-specific chymase, mouse mast cell protease-4, by the competitive reverse transcriptase polymerase chain reaction technique, which revealed its higher level in tight-skin than Pallid [14].
  • In order to study the role of autoimmunity in the production of skin fibrosis, we conducted adoptive transfer experiments in which bone marrow cells of TSK/pa mice were infused into pa/pa mice littermates [3].
  • A hydrophilicity plot and fine epitope mapping with seven synthetic peptides revealed that the properties of the antigenic site were similar to certain properties of epitopes on foreign protein antigens--namely, the epitope was located in the most hydrophilic portion of the P2 protein and also in the terminal region of the molecule [21].


  1. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Huang, L., Kuo, Y.M., Gitschier, J. Nat. Genet. (1999) [Pubmed]
  2. Early emphysema in the tight skin and pallid mice: roles of microfibril-associated glycoproteins, collagen, and mechanical forces. Ito, S., Bartolák-Suki, E., Shipley, J.M., Parameswaran, H., Majumdar, A., Suki, B. Am. J. Respir. Cell Mol. Biol. (2006) [Pubmed]
  3. Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice. Phelps, R.G., Daian, C., Shibata, S., Fleischmajer, R., Bona, C.A. J. Autoimmun. (1993) [Pubmed]
  4. Studies of tum- peptide analogs define an alternative anchor that can be utilized by Ld ligands lacking the consensus P2 anchor. Robinson, R.A., Lee, D.R. J. Immunol. (1996) [Pubmed]
  5. Early down-regulation of c-myc in dimethylsulfoxide-induced mouse erythroleukemia (MEL) cells is mediated at the P1/P2 promoters. Kohlhuber, F., Strobl, L.J., Eick, D. Oncogene (1993) [Pubmed]
  6. Cell-free transcription directed by the 422 adipose P2 gene promoter: activation by the CCAAT/enhancer binding protein. Cheneval, D., Christy, R.J., Geiman, D., Cornelius, P., Lane, M.D. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  7. Adipocyte P2 gene: developmental expression and homology of 5'-flanking sequences among fat cell-specific genes. Hunt, C.R., Ro, J.H., Dobson, D.E., Min, H.Y., Spiegelman, B.M. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  8. Coexistence of a c-myc mRNA initiated in intron 1 with the normal c-myc mRNA and similar regulation of both transcripts in mammalian cells. Ray, D., Robert-Lézénès, J. Oncogene Res. (1989) [Pubmed]
  9. The mouse mutation ulnaless on chromosome 2. Davisson, M.T., Cattanach, B.M. J. Hered. (1990) [Pubmed]
  10. Histidine decarboxylase phenotypes of inbred mouse strains: a regulatory locus (Hdc) determines kidney enzyme concentration. Martin, S.A., Taylor, B.A., Watanabe, T., Bulfield, G. Biochem. Genet. (1984) [Pubmed]
  11. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. Falcón-Pérez, J.M., Starcevic, M., Gautam, R., Dell'Angelica, E.C. J. Biol. Chem. (2002) [Pubmed]
  12. Studies of the cellular immune response to heparan sulfate proteoglycan in the tight skin mouse. Dimitriu-Bona, A., Fillit, H. Cell. Immunol. (1993) [Pubmed]
  13. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. Falcón-Pérez, J.M., Dell'Angelica, E.C. Pigment Cell Res. (2002) [Pubmed]
  14. Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice. Kakizoe, E., Shiota, N., Tanabe, Y., Shimoura, K., Kobayashi, Y., Okunishi, H. J. Invest. Dermatol. (2001) [Pubmed]
  15. Properties of mouse cutaneous rapidly adapting afferents: relationship to skin viscoelasticity. Grigg, P., Robichaud, D.R., Del Prete, Z. J. Neurophysiol. (2004) [Pubmed]
  16. Strain-specific and immunodominant surface epitopes of the P2 porin protein of nontypeable Haemophilus influenzae. Haase, E.M., Campagnari, A.A., Sarwar, J., Shero, M., Wirth, M., Cumming, C.U., Murphy, T.F. Infect. Immun. (1991) [Pubmed]
  17. Epitope specificity and T cell receptor usage in type II collagen induced autoimmune ear disease. Yoo, T.J., Lee, M.K., Min, Y.S., Chiang, H.J., Wang, K., Fujiyoshi, T., Watanabe, T., Krug, M.S., Seyer, J., Cheng, K.C. Cell. Immunol. (1994) [Pubmed]
  18. The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Gwynn, B., Korsgren, C., Cohen, C.M., Ciciotte, S.L., Peters, L.L. Genomics (1997) [Pubmed]
  19. A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 BL/6J mutants. Keil, M., Lungarella, G., Cavarra, E., van Even, P., Martorana, P.A. Lab. Invest. (1996) [Pubmed]
  20. Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15. Douté, R.C., Clark, S.H. Genomics (1994) [Pubmed]
  21. Properties of the ribosomal P2 protein autoantigen are similar to those of foreign protein antigens. Elkon, K., Bonfa, E., Llovet, R., Danho, W., Weissbach, H., Brot, N. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
WikiGenes - Universities