Version 5.4
Mus musculus Gene: Bloc1s3
Summary
InnateDB Gene IDBG-150915.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bloc1s3
Gene Name biogenesis of lysosome-related organelles complex-1, subunit 3
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000057667
Encoded Proteins
IDBP-150917
biogenesis of lysosome-related organelles complex-1, subunit 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000189114:
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 7:19505814-19508331
Strand Reverse strand
Band A3
Transcripts
ENSMUST00000077408 ENSMUSP00000076624
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001654 eye development
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
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030133 transport vesicle
GO:0031083 BLOC-1 complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000189114
View Gene Order
ENSBTAG00000007070
Not yet available
Pathways
NETPATH
REACTOME
REACT_209837
Membrane Trafficking pathway
REACT_232671
Golgi Associated Vesicle Biogenesis pathway
REACT_243409
trans-Golgi Network Vesicle Budding pathway
REACT_234979
Clathrin derived vesicle budding pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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 Q5U5M8
TrEMBL
UniProt Splice Variant
Entrez Gene 232946
UniGene Mm.64557
RefSeq NM_177692 XM_006539831 XM_006539832
OMIM
CCDS CCDS20904
HPRD
IMGT
MGI ID MGI:2678952
MGI Symbol Bloc1s3
EMBL AK054006 AK153811 AY515509 BC025913 BC043666 BK005392
GenPept AAH25913 AAH43666 AAS83987 BAC35618 BAE32192 DAA05717
RNA Seq Atlas 232946

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