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Hps3
Gene Detail
Symbol

Name
ID
Hps3
Hermansky-Pudlak syndrome 3 homolog (human)
MGI:2153839
Feature Type
protein coding gene
Genetic Map
Chromosome 3
6.12 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr3:19995945-20035315 bp, - strand
From VEGA annotation of GRCm38

  39371 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:13019  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: HPS3
Protein SuperFamily: BLOC-2 complex, Hps3 subunit
Gene Tree: Hps3

Human
homologs
HPS3, Hermansky-Pudlak syndrome 3
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 84343
neXtProt AC: NX_Q969F9

Human Synonyms: SUTAL

Human Chr (Location): 3q24; chr3:149129584-149173518 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HPS3

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Chemically induced (ENU)(3) Gene trapped(1) Spontaneous(6) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.
 
Human Diseases Modeled in Mice Using Hps3 (2)    Mutations Annotated to Human Diseases (2)    Phenotype Images(5)
Interactions
Hps3 interacts with 252 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process organelle organization, pigmentation
Component BLOC-2 complex, cytoplasm
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hps3    NEW 
Molecular
reagents
All nucleic(51) cDNA(51)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000023502 (Evidence)
Ensembl Gene Model ENSMUSG00000027615 (Evidence)
Entrez Gene 12807 (Evidence)
UniGene 291533
DFCI TC1587014, TC1576806, TC1757109, TC1596150, TC1684672, TC1673484
DoTS DT.111062122, DT.528629, DT.97411185, DT.111062174, DT.91586451, DT.97368735, DT.97368734, DT.94304434
NIA Mouse Gene Index U023863
Consensus CDS Project CCDS17260.1, CCDS50872.1
International Mouse Phenotyping Consortium Status Hps3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023502 VEGA Gene Model | MGI Sequence Detail 39371 C57BL/6J ±  kb
transcript OTTMUST00000057229 VEGA | MGI Sequence Detail 4016 Not Applicable 
polypeptide OTTMUSP00000027592 VEGA | MGI Sequence Detail 1002 Not Applicable 

For the selected sequences
All sequences(106) RefSeq(15) UniProt(7)
Polymorphisms
SNPs within 2kb(298 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017216 BLOC-2 complex, Hps3 subunit
Protein Ontology PR:000008737 hermansky-Pudlak syndrome 3 protein
References
(Earliest) J:14018 Sweet HO, et al., Cocoa (coa). Mouse News Lett. 1985;73:18
(Latest) J:191882 Rachel RA, et al., Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One. 2012;7(9):e42446
All references(49)
Disease annotation references (3)
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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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory