Version 5.4
Homo sapiens Protein: HPS3
Summary
InnateDB Protein IDBP-60545.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS3
Protein Name Hermansky-Pudlak syndrome 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000296051
InnateDB Gene IDBG-60543 (HPS3)
Protein Structure
UniProt Annotation
Function Involved in early stages of melanosome biogenesis and maturation. {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000250}.
Disease Associations Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269PubMed:11455388, ECO:0000269PubMed:11590544}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006996 organelle organization
GO:0043473 pigmentation
Cellular Component
GO:0005737 cytoplasm
GO:0031084 BLOC-2 complex
Protein Structure and Domains
PDB ID
InterPro IPR017216 Hermansky-Pudlak syndrome 3 protein
PFAM
PRINTS
PIRSF PIRSF037473
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q969F9
PhosphoSite PhosphoSite-Q969F9
TrEMBL Q8N3N1
UniProt Splice Variant
Entrez Gene 84343
UniGene Hs.674817
RefSeq NP_115759
HUGO HGNC:15597
OMIM 606118
CCDS CCDS3140
HPRD 05835
IMGT
EMBL AF375663 AK026357 AK056575 AK291631 AL833878 AY033141 BC016901 BC022062 BC040359 CH471052
GenPept AAH16901 AAH22062 AAH40359 AAK53457 AAK84131 BAB15459 BAB71221 BAF84320 CAD38735 EAW78886

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca