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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

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; chr10:98416198-98446963 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human HPS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Spontaneous(3) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
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(2)    Phenotype Images(2)
Interactions
Hps1 interacts with 137 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)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(48) Genomic(7) cDNA(41)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000032530 (Evidence)
Ensembl Gene ModelENSMUSG00000025188 (Evidence)
Entrez Gene192236 (Evidence)
UniGene218381
DoTSDT.97409849, DT.101715460, DT.487735, DT.87028698, DT.101369694, DT.94161245, DT.101158726, DT.94161241
NIA Mouse Gene IndexU039054
Consensus CDS ProjectCCDS37992.1
International Mouse Knockout Project StatusHps1
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(105) RefSeq(19) UniProt(15)
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:210372 Jing R, et al., Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice. Exp Eye Res. 2014 Feb;119:35-43
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
12/16/2014
MGI 5.20
The Jackson Laboratory