This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome ... See more...

Aliases for PSMD14 Gene

Aliases for PSMD14 Gene

  • Proteasome 26S Subunit, Non-ATPase 14 2 3 5
  • POH1 2 3 4
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 14 2 3
  • 26S Proteasome Non-ATPase Regulatory Subunit 14 3 4
  • 26S Proteasome-Associated PAD1 Homolog 1 3 4
  • Testis Tissue Sperm-Binding Protein Li 69n 3
  • 26S Proteasome Regulatory Subunit Rpn11 3
  • 26S Proteasome Regulatory Subunit RPN11 4
  • EC 3.1.2.15 51
  • EC 3.4.19.- 4
  • PSMD14 5
  • RPN11 3
  • Rpn11 2
  • PAD1 3
  • Pad1 2

External Ids for PSMD14 Gene

Previous GeneCards Identifiers for PSMD14 Gene

  • GC02P160692
  • GC02P162128
  • GC02P162367
  • GC02P161990
  • GC02P161872
  • GC02P162164
  • GC02P154049

Summaries for PSMD14 Gene

Entrez Gene Summary for PSMD14 Gene

  • This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]

GeneCards Summary for PSMD14 Gene

PSMD14 (Proteasome 26S Subunit, Non-ATPase 14) is a Protein Coding gene. Diseases associated with PSMD14 include Cystic Fibrosis and Angelman Syndrome. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Antigen processing-Cross presentation. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and proteasome binding. An important paralog of this gene is COPS5.

UniProtKB/Swiss-Prot Summary for PSMD14 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. The PSMD14 subunit is a metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains within the complex. Plays a role in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving 'Lys-63'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1 accumulation. Also involved in homologous recombination repair by promoting RAD51 loading.

Gene Wiki entry for PSMD14 Gene

Additional gene information for PSMD14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMD14 Gene

Genomics for PSMD14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PSMD14 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 PSMD14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMD14

Top Transcription factor binding sites by QIAGEN in the PSMD14 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • FosB

Genomic Locations for PSMD14 Gene

Genomic Locations for PSMD14 Gene
chr2:161,308,425-161,411,717
(GRCh38/hg38)
Size:
103,293 bases
Orientation:
Plus strand
chr2:162,164,549-162,268,228
(GRCh37/hg19)
Size:
103,680 bases
Orientation:
Plus strand

Genomic View for PSMD14 Gene

Genes around PSMD14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD14 Gene

Proteins for PSMD14 Gene

  • Protein details for PSMD14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00487-PSDE_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 14
    Protein Accession:
    O00487
    Secondary Accessions:
    • B3KNW2
    • O00176

    Protein attributes for PSMD14 Gene

    Size:
    310 amino acids
    Molecular mass:
    34577 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 PSMD4, a base containing 6 ATPases and few additional components (PubMed:27428775, PubMed:27342858). Within the complex, PSMD4 interacts with subunit PSMD7 through their respective MPN domain. Interacts with TXNL1 (PubMed:19349277).

    Three dimensional structures from OCA and Proteopedia for PSMD14 Gene

neXtProt entry for PSMD14 Gene

Selected DME Specific Peptides for PSMD14 Gene

O00487:
  • QALIHGLNRHYYSI
  • ISSLALLKML
  • RAVAVVVDPIQSVKGKVVIDAFR
  • INYRKNELE
  • NTQQSFE
  • GWYHSHPGFGCWLS
  • LAIKNVGK

Post-translational modifications for PSMD14 Gene

  • Ubiquitination at Lys40, Lys186, Lys253, and Lys257
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMD14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PSMD14 Gene

Gene Families for PSMD14 Gene

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

Protein Domains for PSMD14 Gene

InterPro:
Blocks:
  • Mov34 family
ProtoNet:

Suggested Antigen Peptide Sequences for PSMD14 Gene

GenScript: Design optimal peptide antigens:
  • 26S proteasome-associated PAD1 homolog 1 (PSDE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00487

UniProtKB/Swiss-Prot:

PSDE_HUMAN :
  • Belongs to the peptidase M67A family. PSMD14 subfamily.
Family:
  • Belongs to the peptidase M67A family. PSMD14 subfamily.
genes like me logo Genes that share domains with PSMD14: view

Function for PSMD14 Gene

Molecular function for PSMD14 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. The PSMD14 subunit is a metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains within the complex. Plays a role in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving 'Lys-63'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1 accumulation. Also involved in homologous recombination repair by promoting RAD51 loading.

Enzyme Numbers (IUBMB) for PSMD14 Gene

Phenotypes From GWAS Catalog for PSMD14 Gene

Gene Ontology (GO) - Molecular Function for PSMD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0005515 protein binding IEA,IPI 19615732
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,TAS 19214193
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PSMD14: view
genes like me logo Genes that share phenotypes with PSMD14: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PSMD14

CRISPR Products

miRNA for PSMD14 Gene

miRTarBase miRNAs that target PSMD14

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD14

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD14 Gene

Localization for PSMD14 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 PSMD14 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
plasma membrane 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSMD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex TAS 19214193
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 PSMD14: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD14 Gene

Pathways & Interactions for PSMD14 Gene

PathCards logo

SuperPathways for PSMD14 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 PSMD14: view

Pathways by source for PSMD14 Gene

3 GeneGo (Thomson Reuters) pathways for PSMD14 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 PSMD14 Gene
  • RAR-Gamma-RXR-Alpha Degradation
  • Remodeling of Adherens Junctions

Gene Ontology (GO) - Biological Process for PSMD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0000724 double-strand break repair via homologous recombination IMP 22909820
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 --
genes like me logo Genes that share ontologies with PSMD14: view

No data available for SIGNOR curated interactions for PSMD14 Gene

Drugs & Compounds for PSMD14 Gene

(2) Drugs for PSMD14 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 PSMD14: view

Transcripts for PSMD14 Gene

mRNA/cDNA for PSMD14 Gene

1 REFSEQ mRNAs :
9 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 PSMD14

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD14 Gene

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

Relevant External Links for PSMD14 Gene

GeneLoc Exon Structure for
PSMD14

Expression for PSMD14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMD14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PSMD14 Gene

This gene is overexpressed in Lymph node (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMD14 Gene



Protein tissue co-expression partners for PSMD14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMD14

SOURCE GeneReport for Unigene cluster for PSMD14 Gene:

Hs.740477

mRNA Expression by UniProt/SwissProt for PSMD14 Gene:

O00487-PSDE_HUMAN
Tissue specificity: Widely expressed. Highest levels in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for PSMD14 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Lung(4.5)
  • Skin(2.7)
  • Kidney(2.7)
  • Muscle(2.6)
  • Intestine(2.4)
  • Heart(2.4)
  • Blood(2.2)
  • Spleen(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with PSMD14: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD14 Gene

Orthologs for PSMD14 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PSMD14 30 31
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PSMD14 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PSMD14 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PSMD14 30 31
  • 97.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PSMD14 30 31
  • 97.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Psmd14 30 17 31
  • 94.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Psmd14 30
  • 93.87 (n)
Chicken
(Gallus gallus)
Aves PSMD14 30 31
  • 90.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PSMD14 31
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia psmd14 30
  • 84.19 (n)
Str.2132 30
African clawed frog
(Xenopus laevis)
Amphibia psmd14-prov 30
Zebrafish
(Danio rerio)
Actinopterygii psmd14 30 31
  • 80.58 (n)
OneToOne
wufb23b04 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8283 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008617 30
  • 71.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rpn11 30 31
  • 70.45 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rpn-11 30 31
  • 66.67 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14147g 30
  • 63.46 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR006W 30
  • 61.4 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN11 30 31
  • 60.69 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G23540 30
  • 70.7 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5065 30
Rice
(Oryza sativa)
Liliopsida Os01g0267200 30
  • 68.74 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.2961 30
Wheat
(Triticum aestivum)
Liliopsida Ta.27539 30
Corn
(Zea mays)
Liliopsida Zm.4184 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn11 30
  • 65.86 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00823 30
  • 61.57 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2798 30
Species where no ortholog for PSMD14 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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)

Evolution for PSMD14 Gene

ENSEMBL:
Gene Tree for PSMD14 (if available)
TreeFam:
Gene Tree for PSMD14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMD14: view image

Paralogs for PSMD14 Gene

Paralogs for PSMD14 Gene

(1) SIMAP similar genes for PSMD14 Gene using alignment to 4 proteins:

  • PSDE_HUMAN
  • C9JW37_HUMAN
  • Q4ZG77_HUMAN
  • Q53TH1_HUMAN

Pseudogenes.org Pseudogenes for PSMD14 Gene

genes like me logo Genes that share paralogs with PSMD14: view

Variants for PSMD14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMD14 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
718397 Benign: not provided 161,367,778(+) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PSMD14 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSMD14 Gene

Variant ID Type Subtype PubMed ID
nsv437568 CNV loss 16327808
nsv459934 CNV loss 19166990
nsv583500 CNV loss 21841781
nsv818094 CNV loss 17921354
nsv963740 CNV duplication 23825009

Variation tolerance for PSMD14 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMD14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD14 Gene

Disorders for PSMD14 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PSMD14 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
angelman syndrome
  • as
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PSMD14

genes like me logo Genes that share disorders with PSMD14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMD14 Gene

Publications for PSMD14 Gene

  1. Resistance to diverse drugs and ultraviolet light conferred by overexpression of a novel human 26 S proteasome subunit. (PMID: 9374539) Spataro V … Norbury C (The Journal of biological chemistry 1997) 2 3 4 23
  2. An atomic structure of the human 26S proteasome. (PMID: 27428775) Huang X … Shi Y (Nature structural & molecular biology 2016) 3 4
  3. The proteasomal de-ubiquitinating enzyme POH1 promotes the double-strand DNA break response. (PMID: 22909820) Butler LR … Morris JR (The EMBO journal 2012) 3 4
  4. K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC-associated Brcc36 and proteasomal Poh1. (PMID: 19214193) Cooper EM … Cohen RE (The EMBO journal 2009) 3 4
  5. Thioredoxin Txnl1/TRP32 is a redox-active cofactor of the 26 S proteasome. (PMID: 19349277) Andersen KM … Hartmann-Petersen R (The Journal of biological chemistry 2009) 3 4

Products for PSMD14 Gene