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 PSMD8 Gene

Aliases for PSMD8 Gene

  • Proteasome 26S Subunit, Non-ATPase 8 2 3 5
  • P31 2 3 4
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 8 2 3
  • 26S Proteasome Non-ATPase Regulatory Subunit 8 3 4
  • 26S Proteasome Regulatory Subunit RPN12 3 4
  • 26S Proteasome Regulatory Subunit S14 3 4
  • Nin1p 2 3
  • Rpn12 2 3
  • HIP6 2 3
  • HYPF 2 3
  • S14 2 3
  • Epididymis Secretory Sperm Binding Protein Li 91n 3
  • 26S Proteasome Regulatory Subunit P31 3
  • HEL-S-91n 3
  • PSMD8 5

External Ids for PSMD8 Gene

Previous GeneCards Identifiers for PSMD8 Gene

  • GC19P039479
  • GC19P039256
  • GC19P043541
  • GC19P043558
  • GC19P043559
  • GC19P043560
  • GC19P038865
  • GC19P035312

Summaries for PSMD8 Gene

Entrez Gene Summary for PSMD8 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 a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for PSMD8 Gene

PSMD8 (Proteasome 26S Subunit, Non-ATPase 8) is a Protein Coding gene. Diseases associated with PSMD8 include Cystic Fibrosis. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Antigen processing-Cross presentation.

UniProtKB/Swiss-Prot Summary for PSMD8 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 PSMD8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMD8 Gene

Genomics for PSMD8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PSMD8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMD8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMD8

Top Transcription factor binding sites by QIAGEN in the PSMD8 gene promoter:
  • AhR
  • Arnt
  • CBF(2)
  • CBF-A
  • CBF-B
  • Elk-1
  • FOXD1
  • NRF-2
  • Pax-5
  • Pax-6

Genomic Locations for PSMD8 Gene

Genomic Locations for PSMD8 Gene
chr19:38,374,536-38,383,824
(GRCh38/hg38)
Size:
9,289 bases
Orientation:
Plus strand
chr19:38,865,176-38,874,464
(GRCh37/hg19)
Size:
9,289 bases
Orientation:
Plus strand

Genomic View for PSMD8 Gene

Genes around PSMD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD8 Gene

Proteins for PSMD8 Gene

  • Protein details for PSMD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48556-PSMD8_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 8
    Protein Accession:
    P48556
    Secondary Accessions:
    • B4DX18
    • Q6P1L7

    Protein attributes for PSMD8 Gene

    Size:
    350 amino acids
    Molecular mass:
    39612 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 PSMD8, a base containing 6 ATPases and few additional components. Interacts with DDI2 (PubMed:29290612).
    SequenceCaution:
    • Sequence=AAC62833.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH01164.3; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH65006.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA07237.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PSMD8 Gene

neXtProt entry for PSMD8 Gene

Post-translational modifications for PSMD8 Gene

  • Ubiquitination at Lys111, Lys120, Lys135, Lys138, Lys218, Lys227, Lys297, and Lys337
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PSMD8 Gene

Domains & Families for PSMD8 Gene

Gene Families for PSMD8 Gene

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

Protein Domains for PSMD8 Gene

InterPro:
Blocks:
  • 26S proteasome non-ATPase regulatory subunit Nin1/mts3
ProtoNet:

Suggested Antigen Peptide Sequences for PSMD8 Gene

GenScript: Design optimal peptide antigens:
  • p31 (PSMD8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48556

UniProtKB/Swiss-Prot:

PSMD8_HUMAN :
  • Belongs to the proteasome subunit S14 family.
Family:
  • Belongs to the proteasome subunit S14 family.
genes like me logo Genes that share domains with PSMD8: view

Function for PSMD8 Gene

Molecular function for PSMD8 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 PSMD8 Gene

Gene Ontology (GO) - Molecular Function for PSMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29290612
genes like me logo Genes that share ontologies with PSMD8: view
genes like me logo Genes that share phenotypes with PSMD8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD8 Gene

Localization for PSMD8 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 PSMD8 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex TAS,IDA 17323924
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005838 proteasome regulatory particle TAS 7621825
genes like me logo Genes that share ontologies with PSMD8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD8 Gene

Pathways & Interactions for PSMD8 Gene

PathCards logo

SuperPathways for PSMD8 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
2 RET signaling
3 HIV Life Cycle
.45
4 Parkinson disease
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMD8: view

Pathways by source for PSMD8 Gene

3 GeneGo (Thomson Reuters) pathways for PSMD8 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
2 Qiagen pathways for PSMD8 Gene
  • RAR-Gamma-RXR-Alpha Degradation
  • Remodeling of Adherens Junctions

Gene Ontology (GO) - Biological Process for PSMD8 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:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PSMD8: view

No data available for SIGNOR curated interactions for PSMD8 Gene

Drugs & Compounds for PSMD8 Gene

(2) Drugs for PSMD8 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 910
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMD8: view

Transcripts for PSMD8 Gene

mRNA/cDNA for PSMD8 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 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 PSMD8

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: -
SP6: - - -
SP7:

Relevant External Links for PSMD8 Gene

GeneLoc Exon Structure for
PSMD8

Expression for PSMD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMD8 Gene

mRNA differential expression in normal tissues according to GTEx for PSMD8 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PSMD8 Gene



Protein tissue co-expression partners for PSMD8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMD8

SOURCE GeneReport for Unigene cluster for PSMD8 Gene:

Hs.78466

Evidence on tissue expression from TISSUES for PSMD8 Gene

  • Skin(4.8)
  • Muscle(4.6)
  • Blood(4.4)
  • Nervous system(4.2)
  • Intestine(3.9)
  • Lung(3.9)
  • Pancreas(2.8)
  • Liver(2.6)
  • Heart(2.5)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with PSMD8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD8 Gene

Orthologs for PSMD8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PSMD8 30 31
  • 99.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 91 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PSMD8 30 31
  • 91.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PSMD8 30 31
  • 90.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Psmd8 30
  • 86.38 (n)
Mouse
(Mus musculus)
Mammalia Psmd8 30 17 31
  • 84.95 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PSMD8 31
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PSMD8 31
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3601 30
Zebrafish
(Danio rerio)
Actinopterygii psmd8 30 31
  • 72.81 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9469 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002606 30
  • 62.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rpn12 30 31 32
  • 59.92 (n)
OneToMany
Rpn12R 31
  • 41 (a)
OneToMany
CG11552 32
  • 41 (a)
Worm
(Caenorhabditis elegans)
Secernentea rpn-12 30 31
  • 48.1 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR278W 30
  • 50.14 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN12 30 31 33
  • 46.03 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11374g 30
  • 46.02 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RPN12a 30
  • 49.55 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0435100 30
  • 49.55 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10067 30
  • 50.43 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn12 30
  • 45.94 (n)
Species where no ortholog for PSMD8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PSMD8 Gene

ENSEMBL:
Gene Tree for PSMD8 (if available)
TreeFam:
Gene Tree for PSMD8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMD8: view image

Paralogs for PSMD8 Gene

(3) SIMAP similar genes for PSMD8 Gene using alignment to 7 proteins:

  • PSMD8_HUMAN
  • K7EJC1_HUMAN
  • K7EJR3_HUMAN
  • K7EK21_HUMAN
  • K7ENY6_HUMAN
  • K7ERW6_HUMAN
  • R4GMR5_HUMAN

Pseudogenes.org Pseudogenes for PSMD8 Gene

genes like me logo Genes that share paralogs with PSMD8: view

No data available for Paralogs for PSMD8 Gene

Variants for PSMD8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMD8 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
723606 Benign: not provided 38,380,925(+) A/G SYNONYMOUS_VARIANT
773901 Benign: not provided 38,374,946(+) G/A SYNONYMOUS_VARIANT
777471 Benign: not provided 38,374,779(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PSMD8 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSMD8 Gene

Variant ID Type Subtype PubMed ID
nsv1064275 CNV loss 25217958
nsv470140 CNV gain 18288195
nsv833822 CNV loss 17160897
nsv833823 CNV loss 17160897
nsv953296 CNV deletion 24416366

Variation tolerance for PSMD8 Gene

Gene Damage Index Score: 1.56; 30.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD8

SNP Genotyping and Copy Number Assay Products