HPS5 Q9UPZ3

BLOC-2复合体成员HPS5 (α-整合素结合蛋白63) (Hermansky-Pudlak综合征5蛋白) (Ruby-eye蛋白2同源物) (Ru2)

蛋白质信息 (UniProt)

BLOC-2复合体成员HPS5 (α-整合素结合蛋白63) (Hermansky-Pudlak综合征5蛋白) (Ruby-eye蛋白2同源物) (Ru2)

Q9UPZ3

功能描述

可能调节溶酶体以及高度特化的细胞器（如黑素体和血小板致密颗粒）的合成和功能。调节成纤维细胞内的囊泡运输。可能参与整合素一般功能的调节。 {ECO:0000269|PubMed:15296495, ECO:0000269|PubMed:17301833}。

组织特异性

Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.

亚细胞定位

Cytoplasm, cytosol

关键词

Albinism Alternative splicing Cytoplasm Disease variant Hermansky-Pudlak syndrome Phosphoprotein Proteomics identification Reference proteome

UniProt: Q9UPZ3

NCBI Gene

GeneCards