About   Help   FAQ
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 zebrafish

Protein SuperFamily: BLOC-2 complex, Hps3 subunit
Gene Tree: Hps3

Human
homologs
Human Homolog HPS3, Hermansky-Pudlak syndrome 3
NCBI Gene ID 84343
neXtProt AC  NX_Q969F9
Human Synonyms  SUTAL
Human Chr (Location)  3q24; chr3:149129584-149173518 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human HPS3
Alleles
and
phenotypes
All alleles(14) : Targeted(4) Gene trapped(1) Spontaneous(6) Chemically induced(3)
 
Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.
 
Human Diseases Modeled Using Mouse Hps3 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)
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)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(51) cDNA(51)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000023502 (Evidence)
Ensembl Gene ModelENSMUSG00000027615 (Evidence)
Entrez Gene12807 (Evidence)
UniGene291533
DFCITC1576806, TC1587014, TC1596150, TC1673484, TC1684672, TC1757109
DoTSDT.111062122, DT.111062174, DT.528629, DT.91586451, DT.94304434, DT.97368734, DT.97368735, DT.97411185
NIA Mouse Gene IndexU023863
Consensus CDS ProjectCCDS17260.1, CCDS50872.1
International Mouse Knockout Project StatusHps3
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(50)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/08/2014
MGI 5.17
The Jackson Laboratory