Sequence Detail

ID/Version

Q99KG7 (UniProt | EBI)

Last sequence update: 2002-06-06
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=BLOC-3 complex member HPS4 {ECO:0000305};AltName: Full=Hermansky-Pudlak syndrome 4 protein homolog;AltName: Full=Light-ear protein; Short=Le protein;

Provider

SWISS-PROT

Sequence

Polypeptide 671 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	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	45	97	3	8

Sequence references in MGI

J:75144 Suzuki T, et al., Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002 Mar;30(3):321-4
J:230050 Marubashi S, et al., RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes. J Biol Chem. 2016 Jan 15;291(3):1427-40
J:235260 Kloer DP, et al., Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. J Biol Chem. 2010 Mar 5;285(10):7794-804