BLOC-1 subunit 3

BLOC1S3
Identifiers
Aliases	BLOC1S3, BLOS3, HPS8, RP, biogenesis of lysosomal organelles complex 1 subunit 3
External IDs	OMIM: 609762; MGI: 2678952; GeneCards: BLOC1S3
Gene location (Human)
Chr.	Chromosome 19 (human)
End	45,216,933 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	19,242,292 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; skin of arm; ; granulocyte; ; gonad; ; testicle; ; blood; ; skin of leg; ; mucosa of ileum; ; skin of abdomen;
	Top expressed in
	granulocyte; ; lumbar spinal ganglion; ; ventral tegmental area; ; intestinal villus; ; central gray substance of midbrain; ; carotid body; ; decidua; ; pontine nuclei; ; fetal liver hematopoietic progenitor cell; ; ganglionic eminence;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; molecular function; protein transmembrane transporter activity;
Cellular component	cytoplasm; transport vesicle; axon cytoplasm; cytosol; BLOC-1 complex;
Biological process	eye development; platelet activation; melanosome transport; endosome to melanosome transport; neuron projection development; melanosome organization; pigmentation; platelet dense granule organization; anterograde axonal transport; anterograde synaptic vesicle transport; blood coagulation; positive regulation of natural killer cell activation; secretion of lysosomal enzymes; developmental pigmentation; protein transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	388552
	232946
	ENSG00000189114
	ENSMUSG00000057667
	Q6QNY0
	Q5U5M8
	NM_212550
	NM_177692
	NP_997715
	NP_808360
	Wikidata
View/Edit Human	View/Edit Mouse

BLOC-1 subunit 3 is a protein that in humans is encoded by the BLOC1S3 gene. This protein is a component of BLOC-1 (Biogenesis of lysosome-related organelles complex), which is involved in the biogenesis of certain organelles like melanosomes and dense granules in platelets. Also called HPS8, mutations in the gene BLOC1S3 are associated with type 8 Hermansky–Pudlak syndrome.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000189114 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057667 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Starcevic M, Dell'Angelica EC (Jun 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". J Biol Chem. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
1 2 3 "Entrez Gene: BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3".

External links

Human BLOC1S3 genome location and BLOC1S3 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000189114 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057667 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15102850-5] Starcevic M, Dell'Angelica EC (Jun 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". J Biol Chem. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.

[entrez-6] 1 2 3 "Entrez Gene: BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3".