Version 5.4
Mus musculus Gene: Hps5
Summary
InnateDB Gene IDBG-186528.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hps5
Gene Name Hermansky-Pudlak syndrome 5 homolog (human)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000014418
Encoded Proteins
IDBP-186530
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-266193
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-266195
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-541357
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-542065
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-541349
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-533021
Hermansky-Pudlak syndrome 5 homolog (human)
IDBP-541355
Hermansky-Pudlak syndrome 5 homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000110756:
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 7:46760466-46796064
Strand Reverse strand
Band B3
Transcripts
ENSMUST00000014562 ENSMUSP00000014562
ENSMUST00000107654 ENSMUSP00000103281
ENSMUST00000107653 ENSMUSP00000103280
ENSMUST00000142663 ENSMUSP00000122887
ENSMUST00000145776
ENSMUST00000138480
ENSMUST00000153789 ENSMUSP00000119876
ENSMUST00000130365 ENSMUSP00000114384
ENSMUST00000143627
ENSMUST00000157026
ENSMUST00000152759 ENSMUSP00000115786
ENSMUST00000123725 ENSMUSP00000116770
ENSMUST00000124675
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000110756
View Gene Order
ENSBTAG00000005147
Not yet available
Cross-References
SwissProt P59438
TrEMBL D3YYJ4 D3Z3L4 Q3TU08
UniProt Splice Variant
Entrez Gene 246694
UniGene Mm.379442 Mm.393925
RefSeq NM_001005247 NM_001005248 XM_006540904 XM_006540907 NM_001167864 XM_006540905 XM_006540906
OMIM
CCDS CCDS21286 CCDS52254
HPRD
IMGT
MGI ID MGI:2180307
MGI Symbol Hps5
EMBL AC090122 AF534396 AF534397 AF534398 AF534399 AK161039 BC046405 CH466603
GenPept AAH46405 AAO25958 AAO25959 AAO25960 AAO25961 BAE36163 EDL22941 EDL22942 EDL22943
RNA Seq Atlas 246694

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