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 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; chr11:18300217-18343721 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HPS5

Alleles and phenotypes

All alleles(77) : Targeted(2) Gene trapped(66) Spontaneous(6) Chemically induced(3)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (5 annotations)

Process	blood coagulation, organelle organization, ...
Component	cytoplasm
Function	protein binding

External Resources: FuncBase

Expression

cDNA source data(11)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(11)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000024390 (Evidence)
Ensembl Gene Model	ENSMUSG00000014418 (Evidence)
Entrez Gene	246694 (Evidence)
DFCI	TC1577759, TC1593203, TC1654562
DoTS	DT.101383574, DT.101383577, DT.101734778, DT.103559851, DT.110994833, DT.529385, DT.94128535, DT.99845191
NIA Mouse Gene Index	U028563
Consensus CDS Project	CCDS21286.1, CCDS52254.1
International Mouse Knockout Project Status	Hps5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024390	VEGA Gene Model | MGI Sequence Detail	35599	C57BL/6J
transcript	OTTMUST00000059781	VEGA | MGI Sequence Detail	4422	Not Applicable
polypeptide	OTTMUSP00000029103	VEGA | MGI Sequence Detail	1126	Not Applicable

All sequences(90) RefSeq(7) UniProt(8)

Polymorphisms

SNPs(305 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(60)

Other accession IDs

MGD-MRK-11042, MGD-MRK-12533, MGD-MRK-14250, MGD-MRK-14251, MGI:2142017, MGI:2142086, MGI:2142352, MGI:98205