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Aliases for PSMG1 Gene

Aliases for PSMG1 Gene

  • Proteasome Assembly Chaperone 1 2
  • Proteasome (Prosome, Macropain) Assembly Chaperone 1 2 3 5
  • Down Syndrome Critical Region Protein 2 3 4
  • Down Syndrome Critical Region Gene 2 2 3
  • Chromosome 21 Leucine-Rich Protein 3 4
  • C21LRP 3 4
  • PAC-1 3 4
  • DSCR2 3 4
  • PAC1 3 4
  • Proteasome Assembling Chaperone 1 3
  • Leucine Rich Protein C21-LRP 3
  • C21-LRP 4
  • LRPC21 3

External Ids for PSMG1 Gene

Previous HGNC Symbols for PSMG1 Gene

  • DSCR2

Previous GeneCards Identifiers for PSMG1 Gene

  • GC21M039468
  • GC21M040546
  • GC21M026017

Summaries for PSMG1 Gene

GeneCards Summary for PSMG1 Gene

PSMG1 (Proteasome Assembly Chaperone 1) is a Protein Coding gene. Diseases associated with PSMG1 include down syndrome and thrombasthenia. GO annotations related to this gene include proteasome binding.

UniProtKB/Swiss-Prot for PSMG1 Gene

  • Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.

Gene Wiki entry for PSMG1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMG1 Gene

Genomics for PSMG1 Gene

Regulatory Elements for PSMG1 Gene

Promoters for PSMG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSMG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSMG1 Gene

Chromosome:
21
Start:
39,174,769 bp from pter
End:
39,183,851 bp from pter
Size:
9,083 bases
Orientation:
Minus strand

Genomic View for PSMG1 Gene

Genes around PSMG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMG1 Gene

Proteins for PSMG1 Gene

  • Protein details for PSMG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95456-PSMG1_HUMAN
    Recommended name:
    Proteasome assembly chaperone 1
    Protein Accession:
    O95456
    Secondary Accessions:
    • B5BUN2
    • Q6FHA3
    • Q6FHD3
    • Q6S713

    Protein attributes for PSMG1 Gene

    Size:
    288 amino acids
    Molecular mass:
    32854 Da
    Quaternary structure:
    • Forms a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer interacts directly with the PSMA5 and PSMA7 proteasome alpha subunits.

    Alternative splice isoforms for PSMG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMG1 Gene

Proteomics data for PSMG1 Gene at MOPED

Post-translational modifications for PSMG1 Gene

  • Degraded by the proteasome upon completion of 20S proteasome maturation.
  • Ubiquitination at Lys 11, Lys 251, Lys 264, and Lys 275
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMG1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PSMG1 (DSCR2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for PSMG1

No data available for DME Specific Peptides for PSMG1 Gene

Domains & Families for PSMG1 Gene

Protein Domains for PSMG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSMG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95456

UniProtKB/Swiss-Prot:

PSMG1_HUMAN :
  • Belongs to the PSMG1 family.
Family:
  • Belongs to the PSMG1 family.
genes like me logo Genes that share domains with PSMG1: view

No data available for Gene Families for PSMG1 Gene

Function for PSMG1 Gene

Molecular function for PSMG1 Gene

UniProtKB/Swiss-Prot Function:
Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.
genes like me logo Genes that share phenotypes with PSMG1: view

Animal Models for PSMG1 Gene

MGI Knock Outs for PSMG1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PSMG1 Gene

Localization for PSMG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMG1 Gene

Cytoplasm. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSMG1 Gene COMPARTMENTS Subcellular localization image for PSMG1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
golgi apparatus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for PSMG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA 15670775
genes like me logo Genes that share ontologies with PSMG1: view

Pathways & Interactions for PSMG1 Gene

SuperPathways for PSMG1 Gene

No Data Available

Interacting Proteins for PSMG1 Gene

Gene Ontology (GO) - Biological Process for PSMG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021930 cerebellar granule cell precursor proliferation IEA --
GO:0080129 proteasome core complex assembly IBA --
genes like me logo Genes that share ontologies with PSMG1: view

No data available for Pathways by source and SIGNOR curated interactions for PSMG1 Gene

Drugs & Compounds for PSMG1 Gene

(1) Drugs for PSMG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PSMG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PSMG1: view

Transcripts for PSMG1 Gene

Unigene Clusters for PSMG1 Gene

Proteasome (prosome, macropain) assembly chaperone 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSMG1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - -
SP7: - -
SP8:

Relevant External Links for PSMG1 Gene

GeneLoc Exon Structure for
PSMG1
ECgene alternative splicing isoforms for
PSMG1

Expression for PSMG1 Gene

mRNA expression in normal human tissues for PSMG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMG1 Gene

This gene is overexpressed in Testis (x4.4).

Protein differential expression in normal tissues from HIPED for PSMG1 Gene

This gene is overexpressed in Bone marrow stromal cell (6.7) and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSMG1 Gene



SOURCE GeneReport for Unigene cluster for PSMG1 Gene Hs.473838

mRNA Expression by UniProt/SwissProt for PSMG1 Gene

O95456-PSMG1_HUMAN
Tissue specificity: In the adult, detected in brain, colon, leukocytes, breast and testis. Widely expressed in the fetus. Also expressed in a variety of proliferating cell lines.
genes like me logo Genes that share expression patterns with PSMG1: view

Protein tissue co-expression partners for PSMG1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PSMG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PSMG1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PSMG1 35
  • 88.31 (n)
  • 89.58 (a)
PSMG1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC608101 35
  • 89.7 (n)
  • 91.67 (a)
PSMG1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psmg1 35
  • 80.9 (n)
  • 84.37 (a)
Psmg1 16
Psmg1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSMG1 35
  • 99.54 (n)
  • 99.31 (a)
PSMG1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmg1 35
  • 81.09 (n)
  • 83.58 (a)
oppossum
(Monodelphis domestica)
Mammalia PSMG1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves PSMG1 35
  • 65.83 (n)
  • 62.37 (a)
PSMG1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMG1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmg1 35
  • 57.48 (n)
  • 48.41 (a)
Str.2934 35
zebrafish
(Danio rerio)
Actinopterygii psmg1 35
  • 51.66 (n)
  • 41.7 (a)
psmg1 36
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToOne
Species with no ortholog for PSMG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PSMG1 Gene

ENSEMBL:
Gene Tree for PSMG1 (if available)
TreeFam:
Gene Tree for PSMG1 (if available)

Paralogs for PSMG1 Gene

No data available for Paralogs for PSMG1 Gene

Variants for PSMG1 Gene

Sequence variations from dbSNP and Humsavar for PSMG1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs8131611 - 39,178,608(+) GAGAA(C/T)AGTTA nc-transcript-variant, reference, missense
rs14194 -- 39,177,540(-) ATCCC(A/G)GCAAT nc-transcript-variant, reference, synonymous-codon
rs391062 -- 39,176,341(+) CCAAG(C/T)GTTTA intron-variant
rs428602 -- 39,175,078(+) AATGA(A/G)TAGTT downstream-variant-500B
rs1127135 -- 39,183,270(-) GCGTC(C/T)GCAGC nc-transcript-variant, reference, missense, utr-variant-5-prime

Variation tolerance for PSMG1 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMG1 Gene

HapMap Linkage Disequilibrium report
PSMG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PSMG1 Gene

Disorders for PSMG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSMG1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
thrombasthenia
- elite association - COSMIC cancer census association via MalaCards
Search PSMG1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PSMG1

Genetic Association Database (GAD)
PSMG1
Human Genome Epidemiology (HuGE) Navigator
PSMG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMG1
genes like me logo Genes that share disorders with PSMG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMG1 Gene

Publications for PSMG1 Gene

  1. Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a function related to cell proliferation. (PMID: 10872820) Vidal-Taboada J.M. … Oliva R. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 67
  2. Cooperation of multiple chaperones required for the assembly of mammalian 20S proteasomes. (PMID: 17189198) Hirano Y. … Murata S. (Mol. Cell 2006) 2 3
  3. A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes. (PMID: 16251969) Hirano Y. … Murata S. (Nature 2005) 3 23
  4. Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine- rich protein. (PMID: 9784380) Vidal-Taboada J.M. … Oliva R. (Biochem. Biophys. Res. Commun. 1998) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PSMG1 Gene

Sources for PSMG1 Gene

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