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Description for Protein HPS4

Hermansky-Pudlak syndrome 4
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(phosphoproteome: 1; undefined: 1)
Summary:
Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Multiple transcript variants encoding different isoforms have been found 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:
Light ear protein homolog; bK1048E9.4; LE; KIAA1667; bK1048E9.5; Light ear protein; Light ear protein isoform a; Light ear protein isoform b; Light ear protein isoform d
Approved Symbol:
HPS4
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; Platelet phosphorylation sites: 3
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 4(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05983 Entrez Gene ID: 89781 OMIM ID: 606682 Swissprot Accession: Q9NQG7;