Bos taurus Gene: HPS3
Summary
InnateDB Gene IDBG-637873.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPS3
Gene Name Hermansky-Pudlak syndrome 3 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000002395
Encoded Proteins
Hermansky-Pudlak syndrome 3
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 ENSG00000163755:
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:119944594-119985509
Strand Reverse strand
Band
Transcripts
ENSBTAT00000003112 ENSBTAP00000003112
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006996 organelle organization
GO:0043473 pigmentation
Cellular Component
GO:0005737 cytoplasm
GO:0031084 BLOC-2 complex
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.22390
RefSeq NM_001191177
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas