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Hps5
Gene Detail
Symbol

Name
ID
Hps5
Hermansky-Pudlak syndrome 5 homolog (human)
MGI:2180307
Synonyms
ru2, ru-2, ruby eye 2
Feature Type
protein coding gene
Genetic Map
Chromosome 7
30.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr7:46760466-46796064 bp, - strand
From VEGA annotation of GRCm38

  35599 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:35333  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

Protein SuperFamily: BLOC-2 complex, Hps5 subunit
Gene Tree: Hps5

Human
homologs
Human Homolog HPS5, Hermansky-Pudlak syndrome 5
NCBI Gene ID 11234
neXtProt AC  NX_Q9UPZ3
Human Synonyms  AIBP63
Human Chr (Location)  11p14; chr11:18278670-18322204 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human HPS5
Mutations,
alleles, and
phenotypes
All mutations/alleles(77) : Chemically induced (ENU)(3) Gene trapped(66) Spontaneous(6) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis.
 
Human Diseases Modeled Using Mouse Hps5 (2)    Alleles Annotated to Human Diseases(4)   
Interactions
Hps5 interacts with 373 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process blood coagulation, organelle organization, ...
Component BLOC-2 complex, cytoplasm
Function protein binding
External Resources: FuncBase
Expression
cDNA source data(60)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(60) cDNA(60)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000024390 (Evidence)
Ensembl Gene ModelENSMUSG00000014418 (Evidence)
Entrez Gene246694 (Evidence)
UniGene379442
DFCITC1654562, TC1577759, TC1593203
DoTSDT.103559851, DT.94128535, DT.99845191, DT.101383577, DT.529385, DT.101734778, DT.101383574, DT.110994833
NIA Mouse Gene IndexU028563
Consensus CDS ProjectCCDS21286.1, CCDS52254.1
International Mouse Knockout Project StatusHps5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024390 VEGA Gene Model | MGI Sequence Detail 35599 C57BL/6J ±  kb
transcript OTTMUST00000059781 VEGA | MGI Sequence Detail 4422 Not Applicable 
polypeptide OTTMUSP00000029103 VEGA | MGI Sequence Detail 1126 Not Applicable 

For the selected sequences
All sequences(106) RefSeq(16) UniProt(15)
Polymorphisms
SNPs within 2kb(419 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017217 BLOC-2 complex, Hps5 subunit
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000008739 hermansky-Pudlak syndrome 5 protein
References
(Earliest) J:15003 Bateman N, Maroon - allele of silver?. Mouse News Lett. 1957;16:7
(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(62)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-11042, MGD-MRK-12533, MGD-MRK-14250, MGD-MRK-14251, MGI:2142017, MGI:2142086, MGI:2142352, MGI:98205

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
12/16/2014
MGI 5.20
The Jackson Laboratory