Version 5.4
Homo sapiens Gene: BLOC1S1
Summary
InnateDB Gene IDBG-38912.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BLOC1S1
Gene Name biogenesis of lysosomal organelles complex-1, subunit 1
Synonyms BLOS1; GCN5L1; MICoA; RT14
Species Homo sapiens
Ensembl Gene ENSG00000135441
Encoded Proteins
IDBP-38914
biogenesis of lysosomal organelles complex-1, subunit 1
IDBP-592236
biogenesis of lysosomal organelles complex-1, subunit 1
IDBP-590779
biogenesis of lysosomal organelles complex-1, subunit 1
IDBP-596726
biogenesis of lysosomal organelles complex-1, subunit 1
IDBP-584334
biogenesis of lysosomal organelles complex-1, subunit 1
IDBP-587489
biogenesis of lysosomal organelles complex-1, subunit 1
IDBP-594613
biogenesis of lysosomal organelles complex-1, subunit 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell\'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:55716037-55720087
Strand Forward strand
Band q13.2
Transcripts
ENST00000257899 ENSP00000257899
ENST00000548925 ENSP00000447537
ENST00000549147 ENSP00000450328
ENST00000553100 ENSP00000446619
ENST00000547076 ENSP00000448605
ENST00000551926 ENSP00000448171
ENST00000548556 ENSP00000450218
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 20 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006892 post-Golgi vesicle-mediated transport
GO:0008089 anterograde axon cargo transport
GO:0009060 aerobic respiration
GO:0018394 peptidyl-lysine acetylation
GO:0031175 neuron projection development
GO:0032438 melanosome organization
GO:0048490 anterograde synaptic vesicle transport
GO:0060155 platelet dense granule organization
GO:0061024 membrane organization
Cellular Component
GO:0005615 extracellular space
GO:0005758 mitochondrial intermembrane space
GO:0005759 mitochondrial matrix
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0031083 BLOC-1 complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000090247
View Gene Order
ENSBTAG00000011918
Not yet available
Pathways
NETPATH
NetPath_3
Notch pathway
REACTOME
REACT_19287
Lysosome Vesicle Biogenesis pathway
REACT_19400
Golgi Associated Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_11123
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P78537
TrEMBL F8VP73 F8W606 G8JLQ3
UniProt Splice Variant
Entrez Gene 2647
UniGene
RefSeq NM_001487
HUGO HGNC:4200
OMIM 601444
CCDS CCDS8889
HPRD
IMGT
EMBL AC009779 BC130640 BC132795 D64007 S82447
GenPept AAB37682 AAI30641 AAI32796 BAA10887
RNA Seq Atlas 2647

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