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Aliases for PSMG1 Gene

Aliases for PSMG1 Gene

  • Proteasome Assembly Chaperone 1 2 3 5
  • Proteasome (Prosome, Macropain) Assembly Chaperone 1 2 3
  • 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

Additional gene information for PSMG1 Gene

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

Genomics for PSMG1 Gene

Regulatory Elements for PSMG1 Gene

Enhancers for PSMG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H039316 1.5 FANTOM5 Ensembl ENCODE 37.6 -133.7 -133705 1.8 PKNOX1 ATF1 ZNF766 GATA2 FOS ATF7 REST SMARCB1 ZNF592 SMARCA4 PSMG1 BRWD1-AS2 HMGN1 BRWD1-AS1 BRWD1
GH21H039181 1.1 ENCODE 48.3 +0.4 425 3.3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B HMGN1 PSMG1 RNF6P1 MYL6P2 DSCR10 LOC100288590 WRB BRWD1 SH3BGR PCBP2P1
GH21H039208 1 ENCODE 48.4 -25.3 -25271 1.3 ATF1 ARNT ZNF121 ZNF766 ATF7 NCOA1 REST ZNF592 MEF2D SMARCA4 PSMG1 HMGN1 BRWD1 WRB GC21P039208 GC21P039207 TIMM9P2
GH21H039346 1.1 ENCODE 38.9 -165.0 -164961 5.3 HDGF ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 ZNF207 PSMG1 WRB HMGN1 BRWD1 SH3BGR LCA5L GC21P039345
GH21H038356 1.2 Ensembl ENCODE 35.6 +827.6 827551 0.6 HDGF RB1 NFIB ZNF473 YBX1 GLI4 RAD21 ZNF155 ZNF207 ZNF143 PSMG1 DYRK1A HMGN1 BRWD1 KCNJ15 LINC01423 GC21M038399 GC21M038398
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSMG1 on UCSC Golden Path with GeneCards custom track

Promoters for PSMG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000142463 251 2401 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Locations for PSMG1 Gene

Genomic Locations for PSMG1 Gene
chr21:39,174,769-39,183,851
(GRCh38/hg38)
Size:
9,083 bases
Orientation:
Minus strand
chr21:40,546,695-40,555,777
(GRCh37/hg19)

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

Post-translational modifications for PSMG1 Gene

  • Degraded by the proteasome upon completion of 20S proteasome maturation.
  • Ubiquitination at Lys11, isoforms=2251, isoforms=2264, and isoforms=2275
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMG1 Gene

No data available for DME Specific Peptides for PSMG1 Gene

Domains & Families for PSMG1 Gene

Gene Families for PSMG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for PSMG1 Gene

Gene Ontology (GO) - Molecular Function for PSMG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16251969
GO:0070628 proteasome binding IBA --
genes like me logo Genes that share ontologies with PSMG1: view
genes like me logo Genes that share phenotypes with PSMG1: view

Animal Models for PSMG1 Gene

MGI Knock Outs for PSMG1:

Clone Products

  • Addgene plasmids for PSMG1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSMG1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 15670775
GO:0005783 endoplasmic reticulum IEA,IDA 15590417
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with PSMG1: view

Pathways & Interactions for PSMG1 Gene

SuperPathways for PSMG1 Gene

No Data Available

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:0043248 proteasome assembly IDA 16251969
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:

Clone Products

  • Addgene plasmids for PSMG1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PSMG1 Gene



Protein tissue co-expression partners for PSMG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMG1 Gene:

PSMG1

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.

Evidence on tissue expression from TISSUES for PSMG1 Gene

  • Muscle(4.6)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with PSMG1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMG1 Gene

Orthologs for PSMG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PSMG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMG1 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia PSMG1 34
  • 91 (a)
OneToOne
LOC608101 33
  • 89.7 (n)
cow
(Bos Taurus)
Mammalia PSMG1 33 34
  • 88.31 (n)
rat
(Rattus norvegicus)
Mammalia Psmg1 33
  • 81.09 (n)
mouse
(Mus musculus)
Mammalia Psmg1 33 16 34
  • 80.9 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMG1 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves PSMG1 33 34
  • 65.83 (n)
lizard
(Anolis carolinensis)
Reptilia PSMG1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmg1 33
  • 57.48 (n)
Str.2934 33
zebrafish
(Danio rerio)
Actinopterygii psmg1 33 34
  • 51.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToOne
Species where no ortholog for PSMG1 was found in the sources mined by GeneCards:
  • 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
rs1000476375 -- 39,180,168(+) ATCAG(A/G)AAAAG intron-variant
rs1000554284 -- 39,177,034(+) ACATA(A/T)ACAGT intron-variant
rs1000882905 -- 39,184,093(+) CGGTG(A/G)TACTG downstream-variant-500B, upstream-variant-2KB
rs1000899160 -- 39,183,542(+) CACCG(C/G)GCGGG upstream-variant-2KB
rs1000950919 -- 39,183,668(+) TTTTG(C/T)TTTTA upstream-variant-2KB

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • leukemia, megakaryoblastic, with or without down syndrome, somatic
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. A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes. (PMID: 16251969) Hirano Y … Murata S (Nature 2005) 3 4 22 60
  2. 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 JM … Oliva R (Biochemical and biophysical research communications 2000) 2 3 4 60
  3. 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 JM … Oliva R (Biochemical and biophysical research communications 1998) 3 4 22 60
  4. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. (PMID: 18758464) Kugathasan S … Hakonarson H (Nature genetics 2008) 3 45 60
  5. Cooperation of multiple chaperones required for the assembly of mammalian 20S proteasomes. (PMID: 17189198) Hirano Y … Murata S (Molecular cell 2006) 2 3 60

Products for PSMG1 Gene

  • Addgene plasmids for PSMG1

Sources for PSMG1 Gene

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