SMART: Pfam domain HPS3

The domain within your query sequence starts at position 3 and ends at position 87; the E-value for the HPS3_N domain shown below is 5.6e-25.

RLYNLHPFGSQQVVPCQWEPEQVCCGGSDALFVAAGCKVEAFAVQGEELCRQRCAFSTLG
RVLRMAYSEAEVLLLKLESDPIHGE

HPS3_N

PFAM accession number:	PF14761
Interpro abstract (IPR029437):	This entry represents the N-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. In human HPS3, this region carries the clathrin-binding motif LLDFE at residues 172-176. 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 [ (PUBMED:11455388) (PUBMED:11590544) ].

PFAM accession number:

PF14761

Interpro abstract (IPR029437):

This entry represents the N-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. In human HPS3, this region carries the clathrin-binding motif LLDFE at residues 172-176. 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 [ (PUBMED:11455388) (PUBMED:11590544) ].

This is a PFAM domain. For full annotation and more information, please see the PFAM entry HPS3_N