HPS6

Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.^[5]

HPS6
Identifiers
Aliases	HPS6, BLOC2S3, biogenesis of lysosomal organelles complex 2 subunit 3, HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
External IDs	OMIM: 607522; MGI: 2181763; HomoloGene: 11691; GeneCards: HPS6; OMA:HPS6 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.32 Start 102,065,349 bp[1] End 102,068,036 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 C3|19 38.75 cM Start 45,991,947 bp[2] End 45,994,612 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte gingival epithelium stromal cell of endometrium mucosa of transverse colon monocyte apex of heart gonad testicle pancreatic ductal cell mucosa of ileum Top expressed in primary oocyte granulocyte secondary oocyte right kidney proximal tubule morula muscle of thigh mesenteric lymph nodes embryo epiblast More reference expression data BioGPS n/a
Gene ontology Molecular function GTP-dependent protein binding protein binding Cellular component cytoplasm organelle membrane BLOC-2 complex endosome cytosol early endosome membrane endoplasmic reticulum membrane intracellular membrane-bounded organelle lysosome lysosomal membrane Biological process protein localization to membrane pigmentation blood coagulation lysosome localization organelle organization melanocyte differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79803 20170 Ensembl ENSG00000166189 ENSMUSG00000074811 UniProt Q86YV9 Q8BLY7 RefSeq (mRNA) NM_024747 NM_176785 RefSeq (protein) NP_079023 NP_789742 Location (UCSC) Chr 10: 102.07 – 102.07 Mb Chr 19: 45.99 – 45.99 Mb PubMed search [3] [4]
Wikidata
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Function

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.^[6] HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).^[7]

Clinical significance

Mutations in this gene are associated with Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.^[5][8]