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Hps1 Gene Detail
 Symbol
Name
ID
Hps1
Hermansky-Pudlak syndrome 1 homolog (human)
MGI:2177763


Nomenclature History
Synonyms 6030422N11Rik
Genetic Map
Chromosome 19
42.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 33)

Sequence Map
Chr19:42829595-42854468 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; pig, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Hps1 ± 2 cM)
Protein SuperFamily: HPS1
TreeFam: TF324374
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000032530 VEGA Gene Model | MGI Sequence Detail 24874 C57BL/6J ± Kb
transcript NM_019424 RefSeq | MGI Sequence Detail 2800 C57BL/6
polypeptide O08983 UniProt | EBI | MGI Sequence Detail 704 Not Applicable
For the selected sequences
All sequences(57)
Alleles
and
phenotypes
All alleles(3) : Targeted, other(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.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (1)   Phenotype Images (2)  
Polymorphisms RFLP(2) SNPs within 2kb(138 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(7)
Process blood coagulation, melanocyte differentiation...
Component cytoplasmic membrane-bounded vesicle
External Resources: MouseFunc
Expression cDNA source data(39)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(47) Genomic(7) cDNA(40)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000025188
DoTS DT.101158726, DT.101369694, DT.101715460, DT.487735, DT.87028698, DT.94161241, DT.94161245, DT.97409849
UniGene 218381
NIA Mouse Gene Index U039054
Entrez Gene 192236
VEGA Gene Model OTTMUSG00000032530
International Mouse Knockout Project Status Hps1
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:144973 Xie T et al., "Multidrug resistance decreases with mutations of melanosomal regulatory genes." Cancer Res 2009 Feb 1;69(3):992-9
All references(56)
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
11/20/2009
MGI_4.31
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The Jackson Laboratory