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Hps4
Gene Detail
Symbol

Name
ID
Hps4
Hermansky-Pudlak syndrome 4 homolog (human)
MGI:2177742
Synonyms
2010205O06Rik, BLOC-3, C130020P05Rik, mKIAA1667
Feature Type
protein coding gene
Genetic Map
Chromosome 5
54.69 cM
Detailed Genetic Map ± 1 cM


Mapping data(18)
Sequence Map
Chr5:112343083-112378414 bp, + strand
From VEGA annotation of GRCm38

  35332 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11123  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: HPS4
Protein SuperFamily: HPS4
Gene Tree: Hps4

Human
homologs
HPS4, Hermansky-Pudlak syndrome 4
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 89781
neXtProt AC: NX_Q9NQG7

Human Synonyms: LE

Human Chr (Location): 22cen-q12.3; chr22:26443613-26483863 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HPS4

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis.
 
Human Diseases Modeled in Mice Using Hps4 (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Hps4 interacts with 39 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process blood coagulation, lysosome organization, ...
Component BLOC-3 complex, cytoplasm, ...
Function protein dimerization activity, protein homodimerization activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (16)    Tissues (2)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 16
cDNA source data(58)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hps4 ; ZFIN hps4    NEW 
Molecular
reagents
All nucleic(59) Genomic(1) cDNA(58)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000023434 (Evidence)
Ensembl Gene Model ENSMUSG00000042328 (Evidence)
Entrez Gene 192232 (Evidence)
UniGene 238043
DFCI TC1672058, TC1613737, TC1577336
DoTS DT.94190286, DT.97374118, DT.484108, DT.55236028
NIA Mouse Gene Index U006004
Consensus CDS Project CCDS19540.1
International Mouse Phenotyping Consortium Status Hps4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023434 VEGA Gene Model | MGI Sequence Detail 35332 C57BL/6J ±  kb
transcript OTTMUST00000056959 VEGA | MGI Sequence Detail 3345 Not Applicable 
polypeptide OTTMUSP00000027431 VEGA | MGI Sequence Detail 671 Not Applicable 

For the selected sequences
All sequences(85) RefSeq(8) UniProt(4)
Polymorphisms
SNPs within 2kb(40 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026091 Hermansky-Pudlak syndrome 4 protein
Protein Ontology PR:000008738 hermansky-Pudlak syndrome 4 protein
References
(Earliest) J:172 Green MC, et al., Three point cross, le, W, Hm. Mouse News Lett. 1965;32:46
(Latest) J:221384 Meng R, et al., Defective release of alpha granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Blood. 2015 Mar 5;125(10):1623-32
All references(62)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-11779, MGI:1917520, MGI:2141078, MGI:96768

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
07/21/2015
MGI 5.22
The Jackson Laboratory