Version 5.4
Homo sapiens Protein: HPS5
Summary
InnateDB Protein IDBP-237861.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS5
Protein Name Hermansky-Pudlak syndrome 5
Synonyms AIBP63;
Species Homo sapiens
Ensembl Protein ENSP00000379552
InnateDB Gene IDBG-34715 (HPS5)
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. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. {ECO:0000269PubMed:15296495, ECO:0000269PubMed:17301833}.
Subcellular Localization Cytoplasm, cytosol {ECO:0000269PubMed:15030569}.
Disease Associations Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: 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:15296495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus. {ECO:0000269PubMed:15296495}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [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
Biological Process
Cellular Component
GO:0031084 BLOC-2 complex
Protein Structure and Domains
PDB ID
InterPro IPR017217 BLOC-2 complex, Hps5 subunit
PFAM
PRINTS
PIRSF PIRSF037475
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UPZ3
PhosphoSite PhosphoSite-Q9UPZ3
TrEMBL F5GWM5
UniProt Splice Variant
Entrez Gene 11234
UniGene Hs.437599
RefSeq NP_009147
HUGO HGNC:17022
OMIM 607521
CCDS CCDS7837
HPRD 07395
IMGT
EMBL AB023234 AC084117 AC107948 AF534400 AF534401 AF534402 AJ131721 AK291663 AK292436 BC033640 CH471064
GenPept AAH33640 AAO25962 AAO25963 AAO25964 BAA76861 BAF84352 BAF85125 CAB38232 EAW68402 EAW68404 EAW68405 EAW68406 EAW68407

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