Version 5.4
Bos taurus Gene: BT.65365
Summary
InnateDB Gene IDBG-635907.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.65365
Gene Name Hermansky-Pudlak syndrome 4 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000017038
Encoded Proteins
IDBP-687792
light ear 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 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 17:68368661-68396020
Strand Reverse strand
Band
Transcripts
ENSBTAT00000053508 ENSBTAP00000050301
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 2 interaction(s) predicted by orthology.
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
Mus musculus
Gene ID
Gene Order
ENSG00000100099
View Gene Order
ENSMUSG00000042328
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.65365
RefSeq NM_001076368 XM_005218093 XM_005218094
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