Mus musculus Gene: Hps3
Summary
InnateDB Gene IDBG-133085.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hps3
Gene Name Hermansky-Pudlak syndrome 3 homolog (human)
Synonyms coa
Species Mus musculus
Ensembl Gene ENSMUSG00000027615
Encoded Proteins
Hermansky-Pudlak syndrome 3 homolog (human)
Hermansky-Pudlak syndrome 3 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 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 3:19995945-20035315
Strand Reverse strand
Band A2
Transcripts
ENSMUST00000012580 ENSMUSP00000012580
ENSMUST00000108321 ENSMUSP00000103957
ENSMUST00000130171
ENSMUST00000141308
ENSMUST00000139446
ENSMUST00000151752
ENSMUST00000137408
ENSMUST00000124808
ENSMUST00000126644
ENSMUST00000155121
ENSMUST00000133094
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
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.291533 Mm.413000
RefSeq NM_001146323 NM_080634 XM_006535380
OMIM
CCDS CCDS17260 CCDS50872
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas