Version 5.4
Homo sapiens Gene: BLOC1S3
Summary
InnateDB Gene IDBG-57190.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BLOC1S3
Gene Name biogenesis of lysosomal organelles complex-1, subunit 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000189114
Encoded Proteins
IDBP-381814
biogenesis of lysosomal organelles complex-1, subunit 3
IDBP-761012
IDBP-766054
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:45178745-45181801
Strand Forward strand
Band q13.32
Transcripts
ENST00000433642 ENSP00000393840
ENST00000588362
ENST00000592910 ENSP00000466798
ENST00000587722 ENSP00000468281
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0001654 eye development
GO:0006892 post-Golgi vesicle-mediated transport
GO:0007596 blood coagulation
GO:0008089 anterograde axon cargo transport
GO:0030168 platelet activation
GO:0031175 neuron projection development
GO:0032402 melanosome transport
GO:0032438 melanosome organization
GO:0032816 positive regulation of natural killer cell activation
GO:0033299 secretion of lysosomal enzymes
GO:0035646 endosome to melanosome transport
GO:0042493 response to drug
GO:0043473 pigmentation
GO:0048066 developmental pigmentation
GO:0048490 anterograde synaptic vesicle transport
GO:0060155 platelet dense granule organization
GO:0061024 membrane organization
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030133 transport vesicle
GO:0031083 BLOC-1 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000057667
View Gene Order
ENSBTAG00000007070
Not yet available
Pathways
NETPATH
REACTOME
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.103902 Hs.714511
RefSeq NM_212550
HUGO
OMIM
CCDS CCDS12656
HPRD 12527
IMGT
EMBL
GenPept
RNA Seq Atlas

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