About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:42743544-42768417 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 36.56 cM
  • Mapping Data
    34 experiments
Strain
Comparison
more
  • SNPs within 2kb
    238 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2177763
 protein coding gene Chr19:42743544-42770013 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HPS1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
  • Synonyms
    BLOC3S1, HPS
  • Links
    NCBI Gene ID: 3257
    neXtProt AC: NX_Q92902
    UniProt: Q92902

  • Chr Location
    10q24.2; chr10:98410939-98446963 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Hps1 mouse models; 2 with human HPS1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    31 phenotypes from 3 alleles in 4 genetic backgrounds
    10 phenotypes from multigenic genotypes
    3 images
    63 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.
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
less
  • All GO Annotations
    39
  • GO References
    17
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    41
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025188 Ensembl Gene Model | MGI Sequence Detail 24874 C57BL/6J ±  kb
    transcript ENSMUST00000160455 Ensembl | MGI Sequence Detail 2952 Not Applicable  
    polypeptide ENSMUSP00000125662 Ensembl | MGI Sequence Detail 712 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • 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 111
      Diseases 5
      Gene Ontology 17
      Phenotypes 63
    • 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:323340 Yuan Y, et al., A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. Blood. 2021 Apr 1;137(13):1804-1817
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory