Sequence Detail

ID/Version

Q8BLY7 Q8BML5 Q3TWQ8 Q8CIA3 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=BLOC-2 complex member HPS6 {ECO:0000305};AltName: Full=Hermansky-Pudlak syndrome 6 protein homolog;AltName: Full=Ruby-eye protein; Short=Ru;

Provider

SWISS-PROT

Sequence

Polypeptide 805 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Hps6	HPS6, biogenesis of lysosomal organelles complex 2 subunit 3	32	96	2	13

Sequence references in MGI

J:81444 Zhang Q, et al., Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb;33(2):145-53
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:145883 Salazar G, et al., Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem. 2009 Jan 16;284(3):1790-802
J:236210 Li K, et al., HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. J Cell Sci. 2014 Nov 1;127(Pt 21):4574-88
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89