The domain within your query sequence starts at position 649 and ends at position 1000; the E-value for the HPS3_C domain shown below is 1.8e-175.
MKNIDPLTALHYLRKLDSCGVSPVLVTLTKAAVALKMGDLDMYRNEMKSHSEMKLVYGFI LEPRLLIQQWKGQIVPTELAIDLKETQPGLLVASVLGLQKNDKIGIVETDSFFKVLCGKD EDAVPQLLIDFWEAQLVACLPNVVLEELFFKLISQYVWRLSERRCPDTVPLRTAEDLINA CSHYGLVNPWVHVLTTSDSLADKNYTDDLLKLQSLICSPSLDVASIIPFLEPLSEDTVAG LSTHALCHTRLQEYEQCIDTLLERCPEAVIAYANQELKEDHWILWWKKLLPELCQRVKSG GERSHLHLSLLKETLSVIAVGLDLRDFLNVLPEDGAAAFFLPYLLFCSRKKS
HPS3_C |
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PFAM accession number: | PF14763 |
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Interpro abstract (IPR029438): | 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 [ (PUBMED:11455388) (PUBMED:11590544) ]. |
This is a PFAM domain. For full annotation and more information, please see the PFAM entry HPS3_C