Version 5.4
Homo sapiens Gene: HPS5
Summary
InnateDB Gene IDBG-34715.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS5
Gene Name Hermansky-Pudlak syndrome 5
Synonyms AIBP63
Species Homo sapiens
Ensembl Gene ENSG00000110756
Encoded Proteins
IDBP-34719
Hermansky-Pudlak syndrome 5
IDBP-237861
Hermansky-Pudlak syndrome 5
IDBP-368384
Hermansky-Pudlak syndrome 5
IDBP-600388
Hermansky-Pudlak syndrome 5
IDBP-604043
Hermansky-Pudlak syndrome 5
IDBP-583883
Hermansky-Pudlak syndrome 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:18278668-18322198
Strand Reverse strand
Band p15.1
Transcripts
ENST00000352460
ENST00000349215 ENSP00000265967
ENST00000399287
ENST00000396253 ENSP00000379552
ENST00000438420 ENSP00000399590
ENST00000537258 ENSP00000437437
ENST00000545561
ENST00000544218 ENSP00000441781
ENST00000543728
ENST00000531848 ENSP00000431758
ENST00000589545
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
GO:0005515 protein binding
Biological Process
GO:0006996 organelle organization
GO:0007596 blood coagulation
GO:0043473 pigmentation
Cellular Component
GO:0031084 BLOC-2 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000014418
View Gene Order
ENSBTAG00000005147
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.437599
RefSeq NM_007216 NM_181507 NM_181508 XM_005252761 XM_005252762 XM_005252763 XM_005252764
HUGO
OMIM
CCDS CCDS7836 CCDS7837
HPRD 07395
IMGT
EMBL
GenPept
RNA Seq Atlas

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