Version 5.4
Homo sapiens Gene: HPS6
Summary
InnateDB Gene IDBG-87747.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS6
Gene Name Hermansky-Pudlak syndrome 6
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000166189
Encoded Proteins
IDBP-87751
Hermansky-Pudlak syndrome 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:102065390-102068038
Strand Forward strand
Band q24.32
Transcripts
ENST00000299238 ENSP00000299238
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000074811
View Gene Order
ENSBTAG00000021942
Not yet available
Cross-References
SwissProt Q86YV9
TrEMBL
UniProt Splice Variant
Entrez Gene 79803
UniGene Hs.125133
RefSeq NM_024747
HUGO HGNC:18817
OMIM 607522
CCDS CCDS7527
HPRD
IMGT
EMBL AF536238 AK026154 AL500527 BC011594 BC014993 CH471066
GenPept AAH11594 AAH14993 AAO25965 BAB15378 CAH72214 EAW49726
RNA Seq Atlas 79803

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