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Hps3 Gene Detail
Summary
  • Symbol
    Hps3
  • Name
    Hermansky-Pudlak syndrome 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153839
    NCBI Gene: 12807
  • Gene Overview
    MyGene.info: HPS3
Location & Maps
more
  • Sequence Map
    Chr3:19995945-20035315 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39371 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 6.12 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    HPS3, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HPS3, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BLOC2S1, SUTAL
  • Links
    NCBI Gene ID: 84343
    neXtProt AC: NX_Q969F9

  • Chr Location
    3q24; chr3:149129584-149173518 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Hps3 mouse models; 1 with human HPS3 associations

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 3; HPS3   OMIM: 614072 View 3 models
       Storage Pool Platelet Disease   OMIM: 185050 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 7 alleles in 8 genetic backgrounds
    2 phenotypes from multigenic genotypes
    5 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    3
  • Gene trapped
    1
  • Radiation induced
    1
  • Spontaneous
    6
  • Targeted
    4
  • Genomic Mutations
    1 involving Hps3
  • Incidental Mutations
Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023502 VEGA Gene Model | MGI Sequence Detail 39371 C57BL/6J ±  kb
transcript OTTMUST00000057229 VEGA | MGI Sequence Detail 4016 Not Applicable  
polypeptide OTTMUSP00000027592 VEGA | MGI Sequence Detail 1002 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    298 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000008737 Hermansky-Pudlak syndrome 3 protein
  • InterPro Domains
    IPR028167 Hermansky-Pudlak syndrome 3, central region
    IPR017216 Hermansky-Pudlak syndrome 3 protein
    IPR029438 Hermansky-Pudlak syndrome 3 protein, C-terminal domain
    IPR029437 Hermansky-Pudlak syndrome 3 protein, N-terminal domain
Molecular
Reagents
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  • All nucleic 51
    cDNA 51

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-2045, MGI:88441
References
more
  • Summaries
    All 46
    Developmental Gene Expression 1
    Diseases 4
    Gene Ontology 3
    Phenotypes 23
  • Earliest
    J:14018 Sweet HO, et al., Cocoa (coa). Mouse News Lett. 1985;73:18
  • Latest
    J:191882 Rachel RA, et al., Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One. 2012;7(9):e42446

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
08/17/2016
MGI 6.05
The Jackson Laboratory