Version 5.4
Homo sapiens Protein: HPS6
Summary
InnateDB Protein IDBP-87751.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS6
Protein Name Hermansky-Pudlak syndrome 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000299238
InnateDB Gene IDBG-87747 (HPS6)
Protein Structure
UniProt Annotation
Function May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. {ECO:0000269PubMed:17041891}.
Subcellular Localization Microsome membrane. Cytoplasm, cytosol. Early endosome membrane.
Disease Associations Hermansky-Pudlak syndrome 6 (HPS6) [MIM:614075]: 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:12548288, ECO:0000269PubMed:17041891}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0030742 GTP-dependent protein binding
Biological Process
GO:0006996 organelle organization
GO:0007596 blood coagulation
GO:0030318 melanocyte differentiation
GO:0043473 pigmentation
GO:0072657 protein localization to membrane
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0031084 BLOC-2 complex
GO:0031901 early endosome membrane
Protein Structure and Domains
PDB ID
InterPro IPR017218 BLOC-2 complex, Hps6 subunit
PFAM
PRINTS
PIRSF PIRSF037476
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86YV9
PhosphoSite PhosphoSite-Q86YV9
TrEMBL
UniProt Splice Variant
Entrez Gene 79803
UniGene Hs.125133
RefSeq NP_079023
HUGO HGNC:18817
OMIM 607522
CCDS CCDS7527
HPRD 08471
IMGT
EMBL AF536238 AK026154 AL500527 BC011594 BC014993 CH471066
GenPept AAH11594 AAH14993 AAO25965 BAB15378 CAH72214 EAW49726

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) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

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