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Aliases for PSMD1 Gene

Aliases for PSMD1 Gene

  • Proteasome 26S Subunit, Non-ATPase 1 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 1 2 3
  • 26S Proteasome Regulatory Subunit RPN2 3 4
  • 26S Proteasome Regulatory Subunit S1 3 4
  • 26S Proteasome Subunit P112 3 4
  • P112 3
  • Rpn2 3
  • S1 3

External Ids for PSMD1 Gene

Previous GeneCards Identifiers for PSMD1 Gene

  • GC02P229979
  • GC02P230653
  • GC02P231885
  • GC02P232124
  • GC02P231747
  • GC02P231629
  • GC02P231921
  • GC02P223763

Summaries for PSMD1 Gene

Entrez Gene Summary for PSMD1 Gene

  • The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2010]

GeneCards Summary for PSMD1 Gene

PSMD1 (Proteasome 26S Subunit, Non-ATPase 1) is a Protein Coding gene. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include binding and enzyme regulator activity.

UniProtKB/Swiss-Prot for PSMD1 Gene

  • Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.

Gene Wiki entry for PSMD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMD1 Gene

Genomics for PSMD1 Gene

Regulatory Elements for PSMD1 Gene

Promoters for PSMD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSMD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSMD1 Gene

Chromosome:
2
Start:
231,056,864 bp from pter
End:
231,172,827 bp from pter
Size:
115,964 bases
Orientation:
Plus strand

Genomic View for PSMD1 Gene

Genes around PSMD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD1 Gene

Proteins for PSMD1 Gene

  • Protein details for PSMD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99460-PSMD1_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 1
    Protein Accession:
    Q99460
    Secondary Accessions:
    • B8ZZH9
    • Q24JU0
    • Q53TI2
    • Q6GMU5
    • Q6P2P4
    • Q6PJM7
    • Q6PKG9
    • Q86VU1
    • Q8IV79

    Protein attributes for PSMD1 Gene

    Size:
    953 amino acids
    Molecular mass:
    105836 Da
    Quaternary structure:
    • Interacts with ADRM1.
    SequenceCaution:
    • Sequence=AAH01053.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH14013.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH39845.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH47897.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH64398.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH73833.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for PSMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMD1 Gene

Proteomics data for PSMD1 Gene at MOPED

Post-translational modifications for PSMD1 Gene

  • Ubiquitination at Lys 20, Lys 136, Lys 292, Lys 302, Lys 310, Lys 838, and Lys 890
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PSMD1 Gene

Domains & Families for PSMD1 Gene

Gene Families for PSMD1 Gene

Suggested Antigen Peptide Sequences for PSMD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99460

UniProtKB/Swiss-Prot:

PSMD1_HUMAN :
  • Belongs to the proteasome subunit S1 family.
  • Contains 10 PC repeats.
Family:
  • Belongs to the proteasome subunit S1 family.
Similarity:
  • Contains 10 PC repeats.
genes like me logo Genes that share domains with PSMD1: view

Function for PSMD1 Gene

Molecular function for PSMD1 Gene

GENATLAS Biochemistry:
multicatalytic proteinase complex (prosome,macropain,26S),19/22S regulator of proteasome,non ATPase subunit,p112-L (105kDa) and p112-S (90kDa)
UniProtKB/Swiss-Prot Function:
Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.

Gene Ontology (GO) - Molecular Function for PSMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 contributes_to endopeptidase activity IBA --
genes like me logo Genes that share ontologies with PSMD1: view
genes like me logo Genes that share phenotypes with PSMD1: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD1 Gene

Localization for PSMD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSMD1 Gene COMPARTMENTS Subcellular localization image for PSMD1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
cytoskeleton 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008540 proteasome regulatory particle, base subcomplex IBA --
GO:0034515 proteasome storage granule IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PSMD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD1 Gene

Pathways & Interactions for PSMD1 Gene

SuperPathways for PSMD1 Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
2 Interleukin-3, 5 and GM-CSF signaling
3 Chks in Checkpoint Regulation
4 Infectious disease
.48
5 Immune System
genes like me logo Genes that share pathways with PSMD1: view

Gene Ontology (GO) - Biological Process for PSMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with PSMD1: view

No data available for SIGNOR curated interactions for PSMD1 Gene

Drugs & Compounds for PSMD1 Gene

(5) Drugs for PSMD1 Gene - From: DGIdb, FDA Approved Drugs, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Experimental, Investigational Pharma inhibitor, other, Target Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 769
carfilzomib Approved Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
Velcade Approved May 2003 Pharma 0
MLN-9708 Pharma 0
OPROZOMIB Pharma 0
genes like me logo Genes that share compounds with PSMD1: view

Transcripts for PSMD1 Gene

Unigene Clusters for PSMD1 Gene

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD1 Gene

No ASD Table

Relevant External Links for PSMD1 Gene

GeneLoc Exon Structure for
PSMD1
ECgene alternative splicing isoforms for
PSMD1

Expression for PSMD1 Gene

mRNA expression in normal human tissues for PSMD1 Gene

Protein differential expression in normal tissues from HIPED for PSMD1 Gene

This gene is overexpressed in Lymph node (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSMD1 Gene



SOURCE GeneReport for Unigene cluster for PSMD1 Gene Hs.3887

genes like me logo Genes that share expression patterns with PSMD1: view

Protein tissue co-expression partners for PSMD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PSMD1 Gene

Orthologs for PSMD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PSMD1 35
  • 94.12 (n)
  • 98.95 (a)
PSMD1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSMD1 35
  • 94.05 (n)
  • 99.06 (a)
PSMD1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psmd1 35
  • 91.05 (n)
  • 99.06 (a)
Psmd1 16
Gm21972 36
  • 96 (a)
OneToMany
Psmd1 36
  • 99 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PSMD1 35
  • 99.69 (n)
  • 99.9 (a)
PSMD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmd1 35
  • 90.73 (n)
  • 98.64 (a)
oppossum
(Monodelphis domestica)
Mammalia PSMD1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSMD1 35
  • 83.07 (n)
  • 96.96 (a)
PSMD1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMD1 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmd1 35
  • 79.85 (n)
  • 94.26 (a)
Str.6698 35
zebrafish
(Danio rerio)
Actinopterygii psmd1 35
  • 76.8 (n)
  • 92.4 (a)
zgc55818 35
psmd1 36
  • 91 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rpn2 37
  • 65 (a)
Rpn2 35
  • 61.02 (n)
  • 67.33 (a)
Rpn2 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001745 35
  • 60.86 (n)
  • 67.15 (a)
worm
(Caenorhabditis elegans)
Secernentea rpn-2 36
  • 36 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL033C 35
  • 52.11 (n)
  • 45.17 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09284g 35
  • 51.83 (n)
  • 44.62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN2 35
  • 51.75 (n)
  • 45.08 (a)
RPN2 36
  • 43 (a)
OneToOne
RPN2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04810 35
  • 55.64 (n)
  • 52.81 (a)
rice
(Oryza sativa)
Liliopsida Os.15239 35
Os08g0224700 35
  • 56.43 (n)
  • 52.52 (a)
corn
(Zea mays)
Liliopsida Zm.4098 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12342 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09450 35
  • 53.49 (n)
  • 50.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn2 35
  • 53.61 (n)
  • 46.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3236 36
  • 62 (a)
OneToOne
Species with no ortholog for PSMD1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSMD1 Gene

ENSEMBL:
Gene Tree for PSMD1 (if available)
TreeFam:
Gene Tree for PSMD1 (if available)

Paralogs for PSMD1 Gene

No data available for Paralogs for PSMD1 Gene

Variants for PSMD1 Gene

Sequence variations from dbSNP and Humsavar for PSMD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs6749 -- 231,170,715(+) TAAGG(A/G)CCAGA nc-transcript-variant, utr-variant-3-prime
rs14686 -- 231,163,700(+) CTGGA(A/G)GTACC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs722040 -- 231,090,831(+) tagaa(C/T)tagaa intron-variant
rs763858 -- 231,158,756(+) ATCAA(A/G)TTATC intron-variant
rs837565 -- 231,078,817(+) ttttg(G/T)gcagt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSMD1 Gene

Variant ID Type Subtype PubMed ID
nsv525474 CNV Loss 19592680
nsv524208 CNV Gain 19592680
esv271896 CNV Insertion 20981092
nsv875957 CNV Gain 21882294
nsv875958 CNV Loss 21882294
nsv511843 CNV Loss 21212237
esv2630508 CNV Deletion 19546169
esv1919954 CNV Deletion 18987734
esv4723 CNV Deletion 18987735
esv2721610 CNV Deletion 23290073
nsv214090 CNV Loss 16902084
esv2245776 CNV Deletion 18987734

Variation tolerance for PSMD1 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMD1 Gene

HapMap Linkage Disequilibrium report
PSMD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD1 Gene

Disorders for PSMD1 Gene

Relevant External Links for PSMD1

Genetic Association Database (GAD)
PSMD1
Human Genome Epidemiology (HuGE) Navigator
PSMD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMD1

No disorders were found for PSMD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSMD1 Gene

Publications for PSMD1 Gene

  1. cDNA cloning of p112, the largest regulatory subunit of the human 26s proteasome, and functional analysis of its yeast homologue, sen3p. (PMID: 8816993) Yokota K. … Tanaka K. (Mol. Biol. Cell 1996) 2 3 4 23 67
  2. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  3. The E3 ubiquitin ligase parkin is recruited to the 26 S proteasome via the proteasomal ubiquitin receptor Rpn13. (PMID: 25666615) Aguileta M.A. … Husnjak K. (J. Biol. Chem. 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PSMD1 Gene

Sources for PSMD1 Gene

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