SMART: Pfam domain HPS3

The domain within your query sequence starts at position 121 and ends at position 508; the E-value for the HPS3_Mid domain shown below is 4.2e-161.

CLKPMELIGEKCEQSGISVKLESTGLEDEKVKYLRVRHLLYRRFAPDISSYVLSDNIKLH
SLQLLPIHQSGFHPDENDLSPKKEMPNLFCFFSLPHVGYLYMVVKSVELMSVYWYPEKSQ
QAVLTPQFLHVITSQSLQCFTVRCSAAVAHEEDLYMDTTLKACPPVSMDVCALRIQLFIG
LKAICHFKNHIILLTKAEPEAIPERRESPKKLISRKDASVRSGTPHVAEAAWNLYLVNTT
APVQLYKEMVDYSNSYKTVKTESCLHLLSEAHLLVRAALMDGSQLEPAEKAELLEAFKES
CGHLGDCYSRLTTEQSHLALPYYKMSGLSLAEVLARVDWTEESESQKYERGLVFYINHSL
YENLDEELSKELAAKVAQIFHMAEPKQL

HPS3_Mid

PFAM accession number:	PF14762
Interpro abstract (IPR028167):	This entry represents the central domain of the Hermansky-Pudlak syndrome 3 protein. This region carries a number of tyrosine sorting motifs and one of two di-leucine sorting boxes at residues as well as a peroxisomal matrix targetting motif. Mutation in the gene that encodes this protein causes Hermansky-Pudlak syndrome 3 (HPS3), a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis due to the absence of platelet dense granules, and lysosomal storage defects [ (PUBMED:11455388) (PUBMED:11590544) ].

PFAM accession number:

PF14762

Interpro abstract (IPR028167):

This entry represents the central domain of the Hermansky-Pudlak syndrome 3 protein. This region carries a number of tyrosine sorting motifs and one of two di-leucine sorting boxes at residues as well as a peroxisomal matrix targetting motif. Mutation in the gene that encodes this protein causes Hermansky-Pudlak syndrome 3 (HPS3), a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis due to the absence of platelet dense granules, 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_Mid