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Description for Protein HPS5

Hermansky-Pudlak syndrome 5
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [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:
Hermansky-Pudlak syndrome 5 isoform b; RU2; Alpha integrin binding protein 63; Ruby eye protein 2 homolog; KIAA1017; AIBP63; Hermansky-Pudlak syndrome 5 isoform a
Approved Symbol:
HPS5
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 26
Human (de-) phosphorylation sites: 26; 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 5(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07395 Entrez Gene ID: 11234 OMIM ID: 607521 Swissprot Accession: Q9UPZ3;