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Psmg1 Gene Detail
Summary
  • Symbol
    Psmg1
  • Name
    proteasome (prosome, macropain) assembly chaperone 1
  • Synonyms
    Dscr2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860263
    NCBI Gene: 56088
  • Gene Overview
    MyGene.info: PSMG1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:95979933-95990960 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11028 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 56.76 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PSMG1, proteasome assembly chaperone 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PSMG1, proteasome assembly chaperone 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C21LRP, DSCR2, LRPC21, PAC1, PAC-1
  • Links
    NCBI Gene ID: 8624
    neXtProt AC: NX_O95456
    UniProt: O95456

  • Chr Location
    21q22.2; chr21:39175446-39183514 (-)  GRCh38.p7

Human Diseases
less
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 4 genetic backgrounds
    31 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.
Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence.
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 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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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000020398 VEGA Gene Model | MGI Sequence Detail 11028 C57BL/6J ±  kb
    transcript OTTMUST00000048374 VEGA | MGI Sequence Detail 1044 Not Applicable  
    polypeptide OTTMUSP00000022152 VEGA | MGI Sequence Detail 289 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      50 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 81
      cDNA 80
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146658
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 3
      Phenotypes 31
    • Earliest
      J:62523 Vidal-Taboada JM, et al., Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a function related to cell proliferation. Biochem Biophys Res Commun. 2000 May 27;272(1):156-63
    • Latest
      J:253021 William CM, et al., Activity-Dependent Dysfunction in Visual and Olfactory Sensory Systems in Mouse Models of Down Syndrome. J Neurosci. 2017 Oct 11;37(41):9880-9888

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory