Details for: BLOC1S6

Gene ID: 26258

Symbol: BLOC1S6

Ensembl ID: ENSG00000104164

Description: biogenesis of lysosomal organelles complex 1 subunit 6

Associated with

Other Information

Genular Protein ID: 1555220152

Symbol: BL1S6_HUMAN

Name: Biogenesis of lysosome-related organelles complex 1 subunit 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10610180

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

PubMed ID: 10610180

DOI: 10.1038/15507

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11936273

Title: The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis.

PubMed ID: 11936273

DOI: 10.1034/j.1600-0749.2002.1r082.x

PubMed ID: 12191018

Title: Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.

PubMed ID: 12191018

DOI: 10.1034/j.1600-0854.2002.30908.x

PubMed ID: 12019270

Title: BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.

PubMed ID: 12019270

DOI: 10.1074/jbc.m204011200

PubMed ID: 17182842

Title: BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

PubMed ID: 17182842

DOI: 10.1091/mbc.e06-12-1066

PubMed ID: 19546860

Title: The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.

PubMed ID: 19546860

DOI: 10.1038/mp.2009.58

PubMed ID: 21665000

Title: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

PubMed ID: 21665000

DOI: 10.1016/j.ajhg.2011.05.009

PubMed ID: 28475864

Title: Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.

PubMed ID: 28475864

DOI: 10.1016/j.ajhg.2017.04.011

PubMed ID: 21998198

Title: The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse.

PubMed ID: 21998198

DOI: 10.1091/mbc.e11-07-0592

PubMed ID: 22461475

Title: Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

PubMed ID: 22461475

DOI: 10.1182/blood-2012-01-404350

PubMed ID: 22203680

Title: Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

PubMed ID: 22203680

DOI: 10.1074/jbc.m111.325746

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 172
  • Mass: 19744
  • Checksum: 37902FCFD4802294
  • Sequence:
  • MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE QLAEGLLSHY 
    LPDLQRSKQA LQELTQNQVV LLDTLEQEIS KFKECHSMLD INALFAEAKH YHAKLVNIRK 
    EMLMLHEKTS KLKKRALKLQ QKRQKEELER EQQREKEFER EKQLTARPAK RM

Genular Protein ID: 3479156330

Symbol: H3BST1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

Sequence Information:

  • Length: 177
  • Mass: 20265
  • Checksum: 7A8E6D7F550DF231
  • Sequence:
  • MGGTEVPRGS FVLGVQLKAV DGEAILSLCV DSGLSDTSPD EGLIEDLTIE DKAVEQLAEG 
    LLSHYLPDLQ RSKQALQELT QNQVVLLDTL EQEISKFKEC HSMLDINALF AEAKHYHAKL 
    VNIRKEMLML HEKTSKLKKR ALKLQQKRQK EELEREQQRE KEFEREKQLT ARPAKRM

Genular Protein ID: 4155702260

Symbol: B3KY40_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 101
  • Mass: 10813
  • Checksum: FFFDEEAF6D0ADF76
  • Sequence:
  • MGGTEVPRGS FVLGVQLKAV DGEAILSLCV DSGLSDTSPD EGLIEDLTIE DKAVEQLAEG 
    LLSHYLPDLQ RSKQALQELT TAAVDCTCLK LKKAKLQIKE D

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.