Version 5.4
Homo sapiens Gene: HPS1
Summary
InnateDB Gene IDBG-85907.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS1
Gene Name Hermansky-Pudlak syndrome 1
Synonyms HPS
Species Homo sapiens
Ensembl Gene ENSG00000107521
Encoded Proteins
IDBP-85909
Hermansky-Pudlak syndrome 1
IDBP-85911
Hermansky-Pudlak syndrome 1
IDBP-85915
Hermansky-Pudlak syndrome 1
IDBP-85917
Hermansky-Pudlak syndrome 1
IDBP-384212
Hermansky-Pudlak syndrome 1
IDBP-810137
Hermansky-Pudlak syndrome 1
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. 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 10:98416198-98446947
Strand Reverse strand
Band q24.2
Transcripts
ENST00000325103 ENSP00000326649
ENST00000359632 ENSP00000352652
ENST00000361490 ENSP00000355310
ENST00000338546 ENSP00000343638
ENST00000414009 ENSP00000392462
ENST00000467246
ENST00000462743
ENST00000478087
ENST00000470095
ENST00000497527
ENST00000498219
ENST00000480020
ENST00000474873
ENST00000465957
ENST00000613394 ENSP00000477926
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006996 organelle organization
GO:0007040 lysosome organization
GO:0007596 blood coagulation
GO:0007601 visual perception
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:0005737 cytoplasm
GO:0005764 lysosome
GO:0005887 integral component of plasma membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0031085 BLOC-3 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025188
View Gene Order
ENSBTAG00000014314
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.404568
RefSeq NM_000195 NM_182639 XM_005269755 XM_005269756 XM_005269757
HUGO
OMIM
CCDS CCDS7475 CCDS7476
HPRD 05403
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