Sequence Detail

ID/Version

O08983 O35950 O35155 O35725 (UniProt | EBI)

Last sequence update: 1998-12-15
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=BLOC-3 complex member HPS1 {ECO:0000305};AltName: Full=Hermansky-Pudlak syndrome 1 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 704 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	Hps1	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	40	96	3	9

Sequence references in MGI

J:40195 Feng GH, et al., Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet. 1997 May;6(5):793-7
J:42484 Gardner JM, et al., The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9238-43