Version 5.4
Mus musculus Protein: Hps5
Summary
InnateDB Protein IDBP-186530.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hps5
Protein Name Hermansky-Pudlak syndrome 5 homolog (human)
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000014562
InnateDB Gene IDBG-186528 (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.
Subcellular Localization Cytoplasm, cytosol {ECO:0000250}.
Disease Associations Note=Defects in Hps5 are the cause of Hermansky-Pudlak- like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated "kiss-and- run" fusion at the plasma membrane.
Tissue Specificity Widely expressed, with lowest expression in skeletal muscle and spleen.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006996 organelle organization
GO:0007596 blood coagulation
GO:0043473 pigmentation
Cellular Component
GO:0031084 BLOC-2 complex
Protein Structure and Domains
PDB ID MGI:2180307
InterPro IPR017217 BLOC-2 complex, Hps5 subunit
IPR017986 WD40-repeat-containing domain
PFAM
PRINTS
PIRSF PIRSF037475
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P59438
PhosphoSite PhosphoSite-P59438
TrEMBL Q3TU08
UniProt Splice Variant
Entrez Gene 246694
UniGene Mm.393925
RefSeq NP_001005248
MGI ID
MGI Symbol Hps5
OMIM
CCDS CCDS21286
HPRD
IMGT
EMBL AC090122 AF534396 AF534397 AF534398 AF534399 AK161039 BC046405 CH466603
GenPept AAH46405 AAO25958 AAO25959 AAO25960 AAO25961 BAE36163 EDL22941 EDL22942 EDL22943

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