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Description for Protein HPS3

Hermansky-Pudlak syndrome 3
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
SUTAL; FLJ22704
Approved Symbol:
HPS3
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 9
Human (de-) phosphorylation sites: 9; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Hermansky-Pudlak syndrome 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05835 Entrez Gene ID: 84343 OMIM ID: 606118 Swissprot Accession: Q969F9;