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Tbio Biogenesis of lysosome-related organelles complex 1 subunit 2

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:15102850, PubMed:17182842). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

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Property Summary

NCBI Gene PubMed Count 23
PubMed Score 714.27
PubTator Score 457.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Expression

  Differential Expression (8)

Disease log2 FC p
medulloblastoma -1.100 3.1e-04
medulloblastoma, large-cell -1.500 4.2e-05
juvenile dermatomyositis 1.063 2.8e-07
primary pancreatic ductal adenocarcinoma 1.172 4.4e-03
primary Sjogren syndrome 1.100 5.6e-03
acute myeloid leukemia 1.900 4.8e-02
ovarian cancer 2.200 3.3e-04
pancreatic cancer 1.200 5.7e-03

Synonym

Accession Q6QNY1 B4DQV2 Q5W040 Q8WUI8 BLOC-1 subunit 2
Symbols CEAP
BLOS2
BORCS2
CEAP11

Gene

BLOC1S2

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

 UniProt Keyword (10)

 GO Function (2)

 GO Component (8)

 GO Process (11)

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 Compartment GO Term (44)

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 IMPC Phenotype (9)

 MGI Phenotype (2)

 HCA RNA Cell Line (56)

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Pathway (1)

Gene RIF (4)

PMID Text
20308062 WASH is a bimodular protein and a component of the BLOC-1 complex in which the C terminus is involved in Arp2/3-mediated actin nucleation, whereas the N-terminal portion is required for its regulation and localization in the cells
19083121 we have explored ways of efficiently gathering high-quality information about candidate binding partners fob bloc1s2
18188704 BLOC1S2 protein is widely expressed in normal tissue as well as in malignant tumors with a tendency towards lower expression levels in certain subtypes of tumors. Over-expression of BLOC1S2 in the presence or absence of HIPPI does not induce apoptosis.
15102850 Biogenesis of lysosome-related organelles complex-1 (BLOC-1) subunit 2 (BLOS2).BLOC-1 is required for the biogenesis of melanosomes and platelet dense granules.

AA Sequence 

MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDMFSKMATYLTGELTATSEDYKLLENMN      1 - 70
KLTSLKYLEMKDIAINISRNLKDLNQKYAGLQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLE     71 - 140
KR                                                                        141 - 142
//

Text Mined References (27)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25898167 2015 BORC, a multisubunit complex that regulates lysosome positioning.
25416956 2014 A proteome-scale map of the human interactome network.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22203680 2012 Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21269460 2011 Initial characterization of the human central proteome.
20308062 2010 Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.
19083121 2009 A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
18329849 2008 Ceap/BLOS2 interacts with BRD7 and selectively inhibits its transcription-suppressing effect on cellular proliferation-associated genes.
18188704 2008 BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.
17182842 2007 BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15381421 2004 Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15102850 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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12923531 2003 Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
12576321 2003 Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12191018 2002 Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.
11483580 2001 Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.