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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: HPS1
Protein SuperFamily: HPS1
Gene Tree: Hps1

Human
homologs
HPS1, Hermansky-Pudlak syndrome 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 3257
neXtProt AC: NX_Q92902

Human Synonyms: HPS

Human Chr (Location): 10q23.1-q23.3; chr10:98416198-98446963 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HPS1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Spontaneous(3) Targeted(1) Transgenic(1)
Genomic Mutations involving Hps1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Hps1 (2)    Mutations Annotated to Human Diseases (2)    Phenotype Images(3)
Interactions
Hps1 interacts with 136 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process blood coagulation, eye pigmentation, ...
Component BLOC-3 complex, cell, ...
Function protein dimerization activity
External Resources: FuncBase
Expression
cDNA source data(40)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hps1 ; ZFIN hps1    NEW 
Molecular
reagents
All nucleic(48) Genomic(7) cDNA(41)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000032530 (Evidence)
Ensembl Gene Model ENSMUSG00000025188 (Evidence)
Entrez Gene 192236 (Evidence)
UniGene 218381
DoTS DT.101158726, DT.101369694, DT.101715460, DT.487735, DT.87028698, DT.94161241, DT.94161245, DT.97409849
NIA Mouse Gene Index U039054
Consensus CDS Project CCDS37992.1
International Mouse Phenotyping Consortium Status Hps1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032530 VEGA Gene Model | MGI Sequence Detail 24874 C57BL/6J ±  kb
transcript OTTMUST00000080946 VEGA | MGI Sequence Detail 2952 Not Applicable 
polypeptide OTTMUSP00000043178 VEGA | MGI Sequence Detail 712 Not Applicable 

For the selected sequences
All sequences(99) RefSeq(18) UniProt(8)
Polymorphisms
RFLP(2) : SNPs within 2kb(238 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(83)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-9555, MGI:2443067, MGI:3035303, MGI:95399

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
08/18/2015
MGI 6.0
The Jackson Laboratory