Sequence Detail

ID/Version

Q91VB4 Q8VHT1 Q6GTD8 Q8VDX2 (UniProt | EBI)

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

Sequence description from provider

RecName: Full=BLOC-2 complex member HPS3 {ECO:0000305};AltName: Full=Cocoa protein;AltName: Full=Hermansky-Pudlak syndrome 3 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 1002 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	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	13	96	3	16

Sequence references in MGI

J:72606 Suzuki T, et al., The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human hermansky-pudlak syndrome-3 gene. Genomics. 2001 Nov;78(1/2):30-7
J:101645 Huizing M, et al., Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Mol Genet Metab. 2001 Sep-Oct;74(1-2):217-25