Version 5.4
Bos taurus Gene: HPS1
Summary
InnateDB Gene IDBG-638530.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS1
Gene Name Hermansky-Pudlak syndrome 1 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000014314
Encoded Proteins
IDBP-690611
Hermansky-Pudlak syndrome 1 protein
IDBP-690616
Hermansky-Pudlak syndrome 1 protein
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 ENSG00000107521:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 26:19361232-19386569
Strand Reverse strand
Band
Transcripts
ENSBTAT00000056415 ENSBTAP00000051727
ENSBTAT00000019034 ENSBTAP00000019034
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006996 organelle organization
GO:0007596 blood coagulation
GO:0030318 melanocyte differentiation
GO:0032816 positive regulation of natural killer cell activation
GO:0033299 secretion of lysosomal enzymes
GO:0043473 pigmentation
GO:0048069 eye pigmentation
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0031085 BLOC-3 complex
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000107521
View Gene Order
ENSMUSG00000025188
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.10878
RefSeq NM_001075716 XM_005225538 XM_005225539
HUGO
OMIM
CCDS
HPRD
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