InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: BLOC1S3

Summary

InnateDB Gene

IDBG-648101.3

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

Bos taurus

Ensembl Gene

ENSBTAG00000007070

Encoded Proteins

IDBP-700867

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 18:53231599-53232201

Strand

Forward strand

Band

Transcripts

ENSBTAT00000009293

ENSBTAP00000009293

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Predicted by orthology
Total	7 [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