Domain

Hermansky-Pudlak syndrome 3 protein, C-terminal domain (IPR029438)

Short name: HPS3_C

Domain relationships

None.

Description

This entry represents the C-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. In human HPS3, this region carries a number of tyrosine sorting motifs and the second of two di-leucine sorting boxes at residues 711-717, as well as the ER membrane-retention signal KKPL at residues 1000-1003. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [PMID: 11455388, PMID: 11590544].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam