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
biogenesis of lysosomal organelles complex-1, subunit 3
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
trans-Golgi Network Vesicle Budding pathway
Clathrin derived vesicle budding pathway
Golgi Associated Vesicle Biogenesis pathway
Membrane Trafficking pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q6QNY0
TrEMBL K7ELZ0 K7EN58
UniProt Splice Variant
Entrez Gene 388552
UniGene Hs.103902 Hs.714511
RefSeq NM_212550
HUGO HGNC:20914
OMIM 609762
CCDS CCDS12656
HPRD 12527
IMGT
EMBL AC005757 AC005779 AK296695 AY531266 BC151151 BC151152
GenPept AAI51152 AAI51153 AAT00462 BAG59289
RNA Seq Atlas 388552