Version 5.4
Homo sapiens Gene: BLOC1S2
Summary
InnateDB Gene IDBG-86384.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BLOC1S2
Gene Name biogenesis of lysosomal organelles complex-1, subunit 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000196072
Encoded Proteins
IDBP-86392
biogenesis of lysosomal organelles complex-1, subunit 2
IDBP-384369
biogenesis of lysosomal organelles complex-1, subunit 2
IDBP-749125
IDBP-813299
biogenesis of lysosomal organelles complex-1, subunit 2
IDBP-813300
biogenesis of lysosomal organelles complex-1, subunit 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:100273280-100286712
Strand Reverse strand
Band q24.31
Transcripts
ENST00000361832
ENST00000370372 ENSP00000359398
ENST00000441611 ENSP00000410865
ENST00000579542 ENSP00000464387
ENST00000618916 ENSP00000484340
ENST00000614731 ENSP00000481847
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
Experimentally validated
Total 30 [view]
Protein-Protein 30 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0043015 gamma-tubulin binding
Biological Process
GO:0007020 microtubule nucleation
GO:0008089 anterograde axon cargo transport
GO:0008284 positive regulation of cell proliferation
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0031175 neuron projection development
GO:0032438 melanosome organization
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048490 anterograde synaptic vesicle transport
GO:0060155 platelet dense granule organization
GO:0097345 mitochondrial outer membrane permeabilization
Cellular Component
GO:0000930 gamma-tubulin complex
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005813 centrosome
GO:0005829 cytosol
GO:0031083 BLOC-1 complex
GO:0055037 recycling endosome
Orthologs
No orthologs found for this gene
Cross-References
SwissProt Q6QNY1
TrEMBL F1T0F0 J3QRU7
UniProt Splice Variant
Entrez Gene 282991
UniGene Hs.34906 Hs.715064
RefSeq NM_001001342 NM_001282436 NM_001282437 NM_001282438 NM_001282439 NM_173809
HUGO HGNC:20984
OMIM 609768
CCDS CCDS73179 CCDS7490
HPRD
IMGT
EMBL AB593084 AK298969 AL138921 AL139819 AY278457 AY531265 BC020494 CH471066
GenPept AAH20494 AAQ19606 AAT00461 BAG61064 BAJ84024 CAH72396 CAH72821 EAW49836
RNA Seq Atlas 282991

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca