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 zebrafish

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; chr22:26846848-26879829 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HPS4

Alleles and phenotypes

All alleles(5) : Targeted(4) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	blood coagulation, lysosome organization, ...
Component	cytoplasm, cytoplasmic membrane-bounded vesicle, ...
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 Type	Results
RNA in situ	16

cDNA source data(57)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(58) Genomic(1) cDNA(57)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000023434 (Evidence)
Ensembl Gene Model	ENSMUSG00000042328 (Evidence)
Entrez Gene	192232 (Evidence)
UniGene	238043
DFCI	TC1577336, TC1613737, TC1672058
DoTS	DT.484108, DT.55236028, DT.94190286, DT.97374118
NIA Mouse Gene Index	U006004
Consensus CDS Project	CCDS19540.1
International Mouse Knockout Project Status	Hps4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023434	VEGA Gene Model | MGI Sequence Detail	35332	C57BL/6J
transcript	OTTMUST00000056959	VEGA | MGI Sequence Detail	3345	Not Applicable
polypeptide	OTTMUSP00000027431	VEGA | MGI Sequence Detail	671	Not Applicable

All sequences(74) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(31 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:189024 Meng R, et al., SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. Blood. 2012 Jul 12;120(2):404-14
All references(60)

Other accession IDs

MGD-MRK-11779, MGI:1917520, MGI:2141078, MGI:96768