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Hps3 Gene Detail
 Symbol
Name
ID
Hps3
Hermansky-Pudlak syndrome 3 homolog (human)
MGI:2153839

Nomenclature History
Genetic Map
Chromosome 3
12.5 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 5)

Sequence Map
Chr3:19895945-19935315 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Hps3 ± 2 cM)
Protein SuperFamily: BLOC-2 complex, Hps3 subunit
TreeFam: TF324432
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000023502 VEGA Gene Model | MGI Sequence Detail 39371 C57BL/6J ± Kb
transcript NM_080634 RefSeq | MGI Sequence Detail 4011 C57BL/6
polypeptide Q91VB4 UniProt | EBI | MGI Sequence Detail 1002 Not Applicable
For the selected sequences
All sequences(69)
Alleles
and
phenotypes 		All alleles(9) : Targeted, other(2) Spontaneous(6) Chemically induced(1)
Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (2)   Phenotype Images (3)  
Polymorphisms SNPs within 2kb(285 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(3)
Process organelle organization, pigmentation...
Component cytoplasm
External Resources: MouseFunc
Expression Literature Summary: (1 records)
cDNA source data(48)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents 		All nucleic(51) cDNA(51)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000027615, ENSMUSG00000078774
DoTS DT.111062122, DT.91586451, DT.94304434, DT.97368734, DT.97368735, DT.97411185
UniGene 291533
DFCI TC1576806, TC1596150, TC1673484, TC1684672
NIA Mouse Gene Index U023863
Entrez Gene 12807
VEGA Gene Model OTTMUSG00000023502
International Mouse Knockout Project Status Hps3
Protein
domains
InterPro ID Description
IPR017216 BLOC-2 complex, Hps3 subunit
Graphical View of Protein Domain Structure
References
(Earliest) J:14018 Sweet HO et al., "Cocoa (coa)" Mouse News Lett 1985;73():18
(Latest) J:142800 Brunskill EW et al., "Atlas of gene expression in the developing kidney at microanatomic resolution. (Erratum: Dev Cell 2009; 16:482)" Dev Cell 2008 Nov;15(5):781-91
All references(25)
Other
accession IDs 		MGD-MRK-2045, MGI:88441
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/20/2009
MGI_4.31
Web browser compatibility 		The Jackson Laboratory