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 n... See more...

Aliases for PSMD3 Gene

Aliases for PSMD3 Gene

  • Proteasome 26S Subunit, Non-ATPase 3 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 3 2 3
  • 26S Proteasome Non-ATPase Regulatory Subunit 3 3 4
  • Tissue Specific Transplantation Antigen 2 2 3
  • 26S Proteasome Regulatory Subunit RPN3 3 4
  • 26S Proteasome Regulatory Subunit S3 3 4
  • Proteasome Subunit P58 3 4
  • TSTA2 3
  • RPN3 3
  • P58 3
  • S3 3

External Ids for PSMD3 Gene

Previous HGNC Symbols for PSMD3 Gene

  • TSTA2

Previous GeneCards Identifiers for PSMD3 Gene

  • GC17M037645
  • GC17P040134
  • GC17P038047
  • GC17P038512
  • GC17P035390
  • GC17P038137
  • GC17P033931

Summaries for PSMD3 Gene

Entrez Gene Summary for PSMD3 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. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]

GeneCards Summary for PSMD3 Gene

PSMD3 (Proteasome 26S Subunit, Non-ATPase 3) is a Protein Coding gene. Diseases associated with PSMD3 include Inflammatory Bowel Disease 22 and Angelman Syndrome. Among its related pathways are Metabolism of proteins and RET signaling. Gene Ontology (GO) annotations related to this gene include enzyme regulator activity. An important paralog of this gene is COPS3.

UniProtKB/Swiss-Prot Summary for PSMD3 Gene

  • Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.

Gene Wiki entry for PSMD3 Gene

Additional gene information for PSMD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMD3 Gene

Genomics for PSMD3 Gene

GeneHancer (GH) Regulatory Elements for PSMD3 Gene

Promoters and enhancers for PSMD3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J039978 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 0.0 -42 4.6 RXRA EP300 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 PSMD3 lnc-MED24-7 CDK12 MED1 SMARCE1 GSDMA SNORD124 MED24 MSL1 LRRC3C
GH17J040062 Promoter/Enhancer 2.8 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +88.4 88449 15 HNRNPK EP300 CTCF TCF12 NRF1 ZNF300 POLR2G NCOR1 TEAD4 PHB2 THRA MED24 MED1 GSDMA SMARCE1 MSL1 RAPGEFL1 PSMD3 TCAP ORMDL3
GH17J039952 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 11.6 -27.7 -27693 1.9 NRF1 POLR2G ZIC2 CTBP1 POLR2A ZBTB26 NFYB ZNF341 SIN3A KDM5B GSDMA lnc-ORMDL3-3 GSDMB PSMD3
GH17J039958 Enhancer 1.1 ENCODE CraniofacialAtlas 16.1 -21.8 -21775 0.9 CTCF USF1 REST RFX1 TOE1 MYC RAD21 TRIM22 ZBTB26 ZEB1 GSDMA PSMD3 LRRC3C ORMDL3 GSDMB RF00017-2374
GH17J040086 Enhancer 0.9 ENCODE dbSUPER 10.7 +105.8 105845 0.2 CTCF REST MYC RAD21 ZBTB7A SKI TRIM22 SMC3 DEK RXRA MED24 THRA MSL1 PSMD3 GSDMA LRRC3C ORMDL3 CDC6 RF00005-073 lnc-MED24-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMD3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMD3

Top Transcription factor binding sites by QIAGEN in the PSMD3 gene promoter:
  • ATF6
  • Elk-1
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-alpha

Genomic Locations for PSMD3 Gene

Genomic Locations for PSMD3 Gene
chr17:39,980,768-39,997,960
(GRCh38/hg38)
Size:
17,193 bases
Orientation:
Plus strand
chr17:38,137,050-38,154,213
(GRCh37/hg19)
Size:
17,164 bases
Orientation:
Plus strand

Genomic View for PSMD3 Gene

Genes around PSMD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD3 Gene

Proteins for PSMD3 Gene

  • Protein details for PSMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43242-PSMD3_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 3
    Protein Accession:
    O43242
    Secondary Accessions:
    • B3KMW9
    • B4DT72
    • Q96EI2
    • Q9BQA4

    Protein attributes for PSMD3 Gene

    Size:
    534 amino acids
    Molecular mass:
    60978 Da
    Quaternary structure:
    • Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD3, a base containing 6 ATPases and few additional components (PubMed:27428775, PubMed:27342858). Interacts with UBQLN1 (via ubiquitin-like domain) (PubMed:15147878). Interacts with ERCC6 (PubMed:26030138).

    Three dimensional structures from OCA and Proteopedia for PSMD3 Gene

    Alternative splice isoforms for PSMD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMD3 Gene

Post-translational modifications for PSMD3 Gene

  • Ubiquitination at Lys54, Lys223, Lys269, Lys273, Lys374, Lys440, Lys461, and Lys492
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PSMD3 Gene

Domains & Families for PSMD3 Gene

Gene Families for PSMD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PSMD3 Gene

Blocks:
  • Domain in components of the proteasome, COP9-complex and eIF3 (PCI)
  • 26S proteasome regulatory subunit, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSMD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54148, highly similar to 26S proteasome non-ATPase regulatory subunit 3 (B4DT72_HUMAN)
  • Proteasome subunit p58 (PSMD3_HUMAN)
  • PSMD3 protein (Q6IBN0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43242

UniProtKB/Swiss-Prot:

PSMD3_HUMAN :
  • Belongs to the proteasome subunit S3 family.
Family:
  • Belongs to the proteasome subunit S3 family.
genes like me logo Genes that share domains with PSMD3: view

Function for PSMD3 Gene

Molecular function for PSMD3 Gene

UniProtKB/Swiss-Prot Function:
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.

Phenotypes From GWAS Catalog for PSMD3 Gene

Gene Ontology (GO) - Molecular Function for PSMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15147878
GO:0030234 enzyme regulator activity IEA --
genes like me logo Genes that share ontologies with PSMD3: view
genes like me logo Genes that share phenotypes with PSMD3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD3 Gene

Localization for PSMD3 Gene

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 PSMD3 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PSMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex TAS,IDA 17323924
GO:0005576 extracellular region TAS --
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PSMD3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD3 Gene

Pathways & Interactions for PSMD3 Gene

PathCards logo

SuperPathways for PSMD3 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 Chks in Checkpoint Regulation
.59
.59
.55
.43
.32
.31
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMD3: view

Pathways by source for PSMD3 Gene

2 KEGG pathways for PSMD3 Gene
3 GeneGo (Thomson Reuters) pathways for PSMD3 Gene
  • Immune response Antigen presentation by MHC class I
  • Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
19 Qiagen pathways for PSMD3 Gene
  • CDK5 Pathway
  • Chks in Checkpoint Regulation
  • DNA Repair Mechanisms
  • Estrogen-mediated S-Phase Entry
  • G2-M Phase Transition

Gene Ontology (GO) - Biological Process for PSMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with PSMD3: view

No data available for SIGNOR curated interactions for PSMD3 Gene

Drugs & Compounds for PSMD3 Gene

(2) Drugs for PSMD3 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 888
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMD3: view

Transcripts for PSMD3 Gene

mRNA/cDNA for PSMD3 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD3

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for PSMD3 Gene

GeneLoc Exon Structure for
PSMD3

Expression for PSMD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMD3 Gene

mRNA differential expression in normal tissues according to GTEx for PSMD3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for PSMD3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMD3 Gene



Protein tissue co-expression partners for PSMD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMD3

SOURCE GeneReport for Unigene cluster for PSMD3 Gene:

Hs.12970

Evidence on tissue expression from TISSUES for PSMD3 Gene

  • Skin(4.7)
  • Nervous system(4.7)
  • Lung(4.6)
  • Eye(4.5)
  • Liver(4.4)
  • Pancreas(4.3)
  • Intestine(3.1)
  • Kidney(3)
  • Blood(2.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PSMD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD3 Gene

Orthologs for PSMD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMD3 31 30
  • 99.63 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSMD3 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSMD3 31 30
  • 92.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PSMD3 31 30
  • 92.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Psmd3 17 31 30
  • 89.31 (n)
rat
(Rattus norvegicus)
Mammalia Psmd3 30
  • 89.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD3 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSMD3 31 30
  • 81.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMD3 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmd3 30
  • 77.69 (n)
Str.15289 30
zebrafish
(Danio rerio)
Actinopterygii psmd3 31 30
  • 78.98 (n)
OneToOne
zgc65867 30
African malaria mosquito
(Anopheles gambiae)
Insecta PSMD3_ANOGA 30
  • 62.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpn3 31 30
  • 60.95 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rpn-3 31 30
  • 50.4 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR164W 30
  • 48.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN3 33 31 30
  • 45.58 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10824g 30
  • 44.13 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G75990 30
  • 52.57 (n)
soybean
(Glycine max)
eudicotyledons Gma.5792 30
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3192 30
rice
(Oryza sativa)
Liliopsida Os08g0550100 30
  • 53.01 (n)
Os.15703 30
barley
(Hordeum vulgare)
Liliopsida Hv.1444 30
corn
(Zea mays)
Liliopsida Zm.701 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8751 31
  • 60 (a)
OneToOne
Cin.8644 30
bread mold
(Neurospora crassa)
Ascomycetes NCU02224 30
  • 53.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn3 30
  • 48.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8644 30
Species where no ortholog for PSMD3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSMD3 Gene

ENSEMBL:
Gene Tree for PSMD3 (if available)
TreeFam:
Gene Tree for PSMD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMD3: view image

Paralogs for PSMD3 Gene

Paralogs for PSMD3 Gene

genes like me logo Genes that share paralogs with PSMD3: view

Variants for PSMD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMD3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
781284 Benign: not provided 39,988,814(+) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PSMD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSMD3 Gene

Variant ID Type Subtype PubMed ID
esv3573064 CNV gain 25503493
nsv1146669 OTHER inversion 26484159

Variation tolerance for PSMD3 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMD3 Gene

Human Gene Mutation Database (HGMD)
PSMD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD3 Gene

Disorders for PSMD3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PSMD3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
inflammatory bowel disease 22
  • ibd22
angelman syndrome
  • as
cystic fibrosis
  • cf