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Hps3 Gene Detail
Summary
  • Symbol
    Hps3
  • Name
    HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
  • Synonyms
    Hermansky-Pudlak syndrome 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153839
    NCBI Gene: 12807
  • Gene Overview
    MyGene.info: HPS3
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:19995945-20035315 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 6.12 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    298 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153839
protein coding gene Chr3:19995945-20035380 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027098
protein coding gene Chr3:17199740-17243466 (-)
A/J MGP_AJ_G0027058
protein coding gene Chr3:17121225-17163991 (-)
AKR/J MGP_AKRJ_G0027027
protein coding gene Chr3:17289622-17332385 (-)
BALB/cJ MGP_BALBcJ_G0027070
protein coding gene Chr3:16875642-16916214 (-)
C3H/HeJ MGP_C3HHeJ_G0026811
protein coding gene Chr3:17314107-17355517 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027515
protein coding gene Chr3:18288466-18335785 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024877
protein coding gene Chr3:15189370-15226063 (-)
CAST/EiJ MGP_CASTEiJ_G0026266
protein coding gene Chr3:17224688-17265214 (-)
CBA/J MGP_CBAJ_G0026789
protein coding gene Chr3:18688930-18731609 (-)
DBA/2J MGP_DBA2J_G0026923
protein coding gene Chr3:16742724-16782667 (-)
FVB/NJ MGP_FVBNJ_G0026891
protein coding gene Chr3:16397665-16438686 (-)
LP/J MGP_LPJ_G0027035
protein coding gene Chr3:17852591-17894035 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026912
protein coding gene Chr3:20762599-20804434 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027575
protein coding gene Chr3:17082541-17122484 (-)
PWK/PhJ MGP_PWKPhJ_G0025999
protein coding gene Chr3:16439166-16481845 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025808
protein coding gene Chr3:16877498-16923720 (-)
WSB/EiJ MGP_WSBEiJ_G0026339
protein coding gene Chr3:17080818-17131950 (-)



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: HomoloGene, HGNC
  • Synonyms
    BLOC2S1, SUTAL
  • Links
    NCBI Gene ID: 84343
    neXtProt AC: NX_Q969F9
    UniProt: Q969F9

  • Chr Location
    3q24; chr3:149129584-149173196 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 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
    24 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027615 Ensembl Gene Model | MGI Sequence Detail 39371 C57BL/6J ±  kb
transcript ENSMUST00000012580 Ensembl | MGI Sequence Detail 4016 Not Applicable  
polypeptide ENSMUSP00000012580 Ensembl | MGI Sequence Detail 1002 Not Applicable  
For the selected sequence
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 52
    cDNA 52

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-2045, MGI:88441
References
more
  • Summaries
    All 51
    Developmental Gene Expression 1
    Diseases 5
    Gene Ontology 5
    Phenotypes 24
  • Earliest
    J:9300 Novak EK, et al., Cocoa: a new mouse model for platelet storage pool deficiency. Br J Haematol. 1988 Jul;69(3):371-8
  • Latest
    J:240992 Young LR, et al., The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012 Nov 15;186(10):1014-24

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
11/13/2018
MGI 6.13
The Jackson Laboratory