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Hps1 Gene Detail
Summary
  • Symbol
    Hps1
  • Name
    HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  • Synonyms
    6030422N11Rik, Hermansky-Pudlak syndrome 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2177763
    NCBI Gene: 192236
  • Gene Overview
    MyGene.info: HPS1
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:42755191-42779996 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 36.56 cM
  • Mapping Data
    34 experiments
Strain
Comparison
more
  • SNPs within 2kb
    245 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2177763
protein coding gene Chr19:42755105-42779996 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025149
protein coding gene Chr19:42109144-42135714 (-)
A/J MGP_AJ_G0025126
protein coding gene Chr19:40084273-40109090 (-)
AKR/J MGP_AKRJ_G0025094
protein coding gene Chr19:41381194-41406005 (-)
BALB/cJ MGP_BALBcJ_G0025120
protein coding gene Chr19:40152401-40177879 (-)
C3H/HeJ MGP_C3HHeJ_G0024880
protein coding gene Chr19:41540272-41565089 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025563
protein coding gene Chr19:43183521-43209225 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022977
protein coding gene Chr19:39435848-39458623 (-)
CAST/EiJ MGP_CASTEiJ_G0024345
protein coding gene Chr19:41237444-41264556 (-)
CBA/J MGP_CBAJ_G0024860
protein coding gene Chr19:45283481-45308302 (-)
DBA/2J MGP_DBA2J_G0024992
protein coding gene Chr19:39924109-39949147 (-)
FVB/NJ MGP_FVBNJ_G0024953
protein coding gene Chr19:39703633-39728446 (-)
LP/J MGP_LPJ_G0025078
protein coding gene Chr19:42089474-42116433 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024984
protein coding gene Chr19:44874863-44899667 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025621
protein coding gene Chr19:41452374-41478593 (-)
PWK/PhJ MGP_PWKPhJ_G0024094
protein coding gene Chr19:39827267-39852379 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023898
protein coding gene Chr19:40196701-40221412 (-)
WSB/EiJ MGP_WSBEiJ_G0024415
protein coding gene Chr19:41590730-41616792 (-)



Homology
more
  • Human Ortholog
    HPS1, HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HPS1, HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BLOC3S1, HPS
  • Links
    NCBI Gene ID: 3257
    neXtProt AC: NX_Q92902
    UniProt: Q92902

  • Chr Location
    10q24.2; chr10:98415068-98446963 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 163
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: HPS1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Hps1 mouse models; 1 with human HPS1 associations

Human Disease Mouse Models
      
IDs
View 4 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
    31 phenotypes from 3 alleles in 4 genetic backgrounds
    10 phenotypes from multigenic genotypes
    3 images
    52 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 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.
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 192236 NCBI Gene Model | MGI Sequence Detail 24806 C57BL/6J ±  kb
transcript NM_001362410 RefSeq | MGI Sequence Detail 3120 C57BL/6  
polypeptide O08983 UniProt | EBI | MGI Sequence Detail 704 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    9 Sequences
  • InterPro Domains
    IPR026053 Hermansky-Pudlak syndrome 1 protein
Molecular
Reagents
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  • All nucleic 49
    Genomic 7
    cDNA 42

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-9555, MGI:2443067, MGI:3035303, MGI:95399
References
more
  • Summaries
    All 93
    Diseases 5
    Gene Ontology 6
    Phenotypes 52
  • 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:258853 Zhou Y, et al., Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. J Immunol. 2018 Mar 15;200(6):2140-2153

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory