HPS6

HPS6
Identifiers
Aliases	HPS6, BLOC2S3, biogenesis of lysosomal organelles complex 2 subunit 3
External IDs	MGI: 2181763 HomoloGene: 11691 GeneCards: HPS6
Gene ontology Molecular function • GTP-dependent protein binding • Rab GTPase 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: 46 – 46.01 Mb
PubMed search

79803

20170

ENSG00000166189

ENSMUSG00000074811

Q86YV9

Q8BLY7

NM_024747

NM_176785

NP_079023

NP_789742

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.

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

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

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Wikipedia