Version 5.4
Mus musculus Gene: Hps4
Summary
InnateDB Gene IDBG-191201.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hps4
Gene Name Hermansky-Pudlak syndrome 4 homolog (human)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000042328
Encoded Proteins
IDBP-191203
Hermansky-Pudlak syndrome 4 homolog (human)
IDBP-256178
Hermansky-Pudlak syndrome 4 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 ENSG00000100099:
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:112343083-112378414
Strand Forward strand
Band F
Transcripts
ENSMUST00000035279 ENSMUSP00000047920
ENSMUST00000112359 ENSMUSP00000107978
ENSMUST00000133708
ENSMUST00000129839
ENSMUST00000176737
ENSMUST00000175718
ENSMUST00000177121
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
GO:0042803 protein homodimerization activity
GO:0046983 protein dimerization activity
Biological Process
GO:0006605 protein targeting
GO:0006996 organelle organization
GO:0007040 lysosome organization
GO:0007596 blood coagulation
GO:0030318 melanocyte differentiation
GO:0050821 protein stabilization
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0016020 membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0031085 BLOC-3 complex
GO:0042470 melanosome
GO:0042827 platelet dense granule
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000100099
View Gene Order
ENSBTAG00000017038
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.238043
RefSeq NM_138646 XM_006534830 XM_006534831 XM_006534832
OMIM
CCDS CCDS19540
HPRD
IMGT
MGI ID
MGI Symbol
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