About   Help   FAQ
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

Protein SuperFamily: HPS4
Gene Tree: Hps4

Human
homologs
Human Homolog HPS4, Hermansky-Pudlak syndrome 4
NCBI Gene ID 89781
neXtProt AC  NX_Q9NQG7
Human Synonyms  LE
Human Chr (Location)  22cen-q12.3; chr22:26444228-26483863 (-)  GRCh38
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 Using Mouse Hps4 (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Hps4 interacts with 39 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 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)
Theiler Stages: 23
Assay TypeResults
RNA in situ 16
cDNA source data(58)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(59) Genomic(1) cDNA(58)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000023434 (Evidence)
Ensembl Gene ModelENSMUSG00000042328 (Evidence)
Entrez Gene192232 (Evidence)
UniGene238043
DFCITC1577336, TC1613737, TC1672058
DoTSDT.484108, DT.55236028, DT.94190286, DT.97374118
NIA Mouse Gene IndexU006004
Consensus CDS ProjectCCDS19540.1
International Mouse Knockout Project StatusHps4
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(80) 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:205341 Park H, et al., Retinal degeneration increases susceptibility to myopia in mice. Mol Vis. 2013;19:2068-79
All references(61)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/09/2014
MGI 5.19
The Jackson Laboratory