Hps1
Gene Detail

Symbol Name ID

Hps1 Hermansky-Pudlak syndrome 1 homolog (human) MGI:2177763

Synonyms

6030422N11Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 19

36.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(33)

Sequence Map

Chr19:42755105-42779978 bp, - strand From VEGA annotation of GRCm38   24874 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:163  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: HPS1
Gene Tree: Hps1

Human homologs

Human Homolog		HPS1, Hermansky-Pudlak syndrome 1
NCBI Gene ID		3257
neXtProt AC		NX_Q92902
Human Synonyms		HPS
Human Chr (Location)		10q23.1-q23.3; chr10:100175955-100206704 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HPS1

Alleles and phenotypes

All alleles(3) : Targeted(1) Spontaneous(2)
 

Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.

 
Human Diseases Modeled Using Mouse Hps1 (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	blood coagulation, eye pigmentation, ...
Component	cytoplasmic membrane-bounded vesicle
Function	protein dimerization activity

External Resources: FuncBase

Expression

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(22) Genomic(7) cDNA(15)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000032530 (Evidence)
Ensembl Gene Model	ENSMUSG00000025188 (Evidence)
Entrez Gene	192236 (Evidence)
Consensus CDS Project	CCDS37992.1
International Mouse Knockout Project Status	Hps1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000032530	VEGA Gene Model | MGI Sequence Detail	24874	C57BL/6J
transcript	OTTMUST00000080946	VEGA | MGI Sequence Detail	2952	Not Applicable
polypeptide	OTTMUSP00000043178	VEGA | MGI Sequence Detail	712	Not Applicable

All sequences(72) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(2) : SNPs(127 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR026053	Hermansky-Pudlak syndrome 1 protein
Protein Ontology	PR:000008736	hermansky-Pudlak syndrome 1 protein

References

(Earliest) J:5022 Deol MS, et al., A new gene affecting the morphogenesis of the vestibular part of the inner ear in the mouse. J Embryol Exp Morphol. 1966 Dec;16(3):543-58
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(78)

Other accession IDs

MGD-MRK-9555, MGI:2443067, MGI:3035303, MGI:95399