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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 PSMD1 Gene
Aliases for PSMD1 Gene
External Ids for PSMD1 Gene
- HGNC: 9554
- Entrez Gene: 5707
- Ensembl: ENSG00000173692
- OMIM: 617842
- UniProtKB: Q99460
Previous GeneCards Identifiers for PSMD1 Gene
- GC02P229979
- GC02P230653
- GC02P231885
- GC02P232124
- GC02P231747
- GC02P231629
- GC02P231921
- GC02P223763
Summaries 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. Diseases associated with PSMD1 include Blepharochalasis and Cystic Fibrosis. 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 binding and enzyme regulator activity. An important paralog of this gene is PSMD2.
UniProtKB/Swiss-Prot Summary for PSMD1 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.
Additional gene information for PSMD1 Gene
- HGNC(9554)
- Entrez Gene(5707)
- Ensembl(ENSG00000173692)
- OMIM(617842)
- UniProtKB(Q99460)
- Open Targets Platform(ENSG00000173692)
- Search for PSMD1 at DataMed
- Search for PSMD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMD1 Gene
Genomics for PSMD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PSMD1 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 PSMD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMD1
- Top Transcription factor binding sites by QIAGEN in the PSMD1 gene promoter:
-
- AP-1
- AP-2gamma
- ATF-2
- c-Jun
- CREB
- deltaCREB
- MIF-1
Genomic Locations for PSMD1 Gene
Genomic Locations for PSMD1 Gene
- chr2:231,056,864-231,172,827
- (GRCh38/hg38)
- Size:
- 115,964 bases
- Orientation:
- Plus strand
- chr2:231,921,578-232,037,541
- (GRCh37/hg19)
- 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:
-
- 2q37.1 by HGNC
- 2q37.1 by Entrez Gene
- 2q37.1 by Ensembl
PSMD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B8ZZH9
- Q24JU0
- Q53TI2
- Q6GMU5
- Q6P2P4
- Q6PJM7
- Q6PKG9
- Q86VU1
- Q8IV79
Protein attributes for PSMD1 Gene
- Size:
- 953 amino acids
- Molecular mass:
- 105836 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, a base containing 6 ATPases and few additional components including PSMD1 (PubMed:27428775, PubMed:27342858). Interacts with ADRM1 (PubMed:16990800, PubMed:16906146). Interacts with ZFAND1 (PubMed:29804830).
- 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};
Three dimensional structures from OCA and Proteopedia for PSMD1 Gene
Protein Expression for PSMD1 Gene
Post-translational modifications for PSMD1 Gene
Other Protein References for PSMD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences PSMD1 Antibody
- Creative Diagnostics Anti-PSMD1 (aa 1-110) polyclonal antibody
- Novus Biologicals Antibodies for PSMD1
-
Abcam antibodies for PSMD1
- Invitrogen Antibodies for PSMD1 (AFLGC-PSMD1)
-
Boster Bio Antibodies for PSMD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSMD1
- Sino Biological Antibodies for PSMD1
Protein Products
-
OriGene Purified Proteins for PSMD1
- Search Origene for MassSpec and Protein Over-expression Lysates for PSMD1
- Origene Custom Protein Services for PSMD1
-
Abcam proteins for PSMD1
No data available for DME Specific Peptides for PSMD1 Gene
Domains & Families for PSMD1 Gene
Gene Families for PSMD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PSMD1 Gene
- InterPro:
- Blocks:
-
- Proteasome/cyclosome, regulatory subunit
- ProtoNet:
Suggested Antigen Peptide Sequences for PSMD1 Gene
- GenScript: Design optimal peptide antigens:
-
- 26S proteasome subunit p112 (PSMD1_HUMAN)
- PSMD1 protein (Q05BX4_HUMAN)
- PSMD1 protein (Q05CW6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q99460- Family:
-
- Belongs to the proteasome subunit S1 family.
Function for PSMD1 Gene
Molecular function for PSMD1 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.
- GENATLAS Biochemistry:
- multicatalytic proteinase complex (prosome,macropain,26S),19/22S regulator of proteasome,non ATPase subunit,p112-L (105kDa) and p112-S (90kDa)
Phenotypes From GWAS Catalog for PSMD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16990800 |
| GO:0030234 | enzyme regulator activity | IEA | -- |
| GO:0031625 | ubiquitin protein ligase binding | IPI | 16207813 |
Phenotypes for PSMD1 Gene
- GenomeRNAi human phenotypes for PSMD1:
-
- Increased Salmonella proliferation
- no effect
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Increased gamma-H2AX phosphorylation
- Reduced mammosphere formation
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Increased CFP-tsO45G cell surface transport
- Decreased Hepatitis C virus replication
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- FOXO1 nuclear localization
- Decreased cell number
- Decreased Sindbis virus (SINV) infection
- Inconclusive
- HIV Rev nuclear localization
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance (Z-score < -2)
- Downregulation of RLR pathway after Sendai virus (SeV) infection
- Decreased viability with paclitaxel
- Decreased viability (cell death)
- Downregulation of NFkappaB pathway
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PSMD1 - Select products 50% OFF >
- * PSMD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PSMD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMD1
miRNA for PSMD1 Gene
- miRTarBase miRNAs that target PSMD1
-
- hsa-miR-24-3p (MIRT030387)
- hsa-miR-1180-3p (MIRT035921)
- hsa-miR-423-3p (MIRT042491)
- hsa-miR-346 (MIRT042702)
- hsa-miR-331-3p (MIRT043445)
- hsa-miR-149-5p (MIRT045451)
- hsa-miR-744-3p (MIRT666786)
- hsa-miR-6848-3p (MIRT666787)
- hsa-miR-6843-3p (MIRT666788)
- hsa-miR-8057 (MIRT666789)
- hsa-miR-4423-5p (MIRT666790)
- hsa-miR-6501-5p (MIRT666791)
- hsa-miR-4284 (MIRT666792)
- hsa-miR-6131 (MIRT666793)
- hsa-miR-3663-5p (MIRT666794)
- hsa-miR-372-5p (MIRT666795)
- hsa-miR-371a-5p (MIRT666796)
- hsa-miR-616-5p (MIRT666797)
- hsa-miR-373-5p (MIRT666798)
- hsa-miR-371b-5p (MIRT666799)
- hsa-miR-3189-3p (MIRT666800)
- hsa-miR-212-5p (MIRT666801)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMD1
- Browse OriGene Inhibitory RNA Products For PSMD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD1
Clone Products
- Applied Biological Materials (abm): Clones for PSMD1 - Select products 50% OFF >
- * PSMD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PSMD1
- Addgene plasmids for PSMD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMD1
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
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| lysosome | 4 |
| cytoskeleton | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Actin filaments (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000502 | proteasome complex | IEA,IDA | 17323924 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD1 Gene
Pathways & Interactions for PSMD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.93
.93
|
.80
.79
.78
.69
.47
|
| 2 | RET signaling |
.92
|
.92
|
| 3 | Chks in Checkpoint Regulation |
Chks in Checkpoint Regulation
.58
G2-M Phase Transition
.58
Estrogen-mediated S-Phase Entry
.54
|
SREBP Proteolysis
.42
DNA Repair Mechanisms
.31
Parkinson's Disease Pathway
.30
|
| 4 | HIV Life Cycle |
.65
|
.45
|
| 5 | Parkinson disease | ||
Pathways by source for PSMD1 Gene
1 Sino Biological pathway for PSMD1 Gene
2 BioSystems pathways for PSMD1 Gene
6 KEGG pathways for PSMD1 Gene
3 GeneGo (Thomson Reuters) pathways for PSMD1 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 PSMD1 Gene
- CDK5 Pathway
- Chks in Checkpoint Regulation
- DNA Repair Mechanisms
- Estrogen-mediated S-Phase Entry
- G2-M Phase Transition
Interacting Proteins for PSMD1 Gene
Selected Interacting proteins:
Q99460-PSMD1_HUMAN
ENSP00000309474
for PSMD1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PSMD1
| 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:0006521 | regulation of cellular amino acid metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for PSMD1 Gene
Drugs & Compounds for PSMD1 Gene
| 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 | |
| Oprozomib | Investigational | Pharma | 0 | |||
| MLN-9708 | Pharma | 0 |
Transcripts for PSMD1 Gene
mRNA/cDNA for PSMD1 Gene
- 2 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000308696 3323 nts (view in UCSC)
- ENST00000373635 3230 nts (view in UCSC)
- ENST00000409643 2901 nts (view in UCSC)
- ENST00000431051 2506 nts (view in UCSC)
- ENST00000440838 761 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PSMD1 - Select products 50% OFF >
- * PSMD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PSMD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMD1
- Browse OriGene Inhibitory RNA Products For PSMD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD1
Clone Products
- Applied Biological Materials (abm): Clones for PSMD1 - Select products 50% OFF >
- * PSMD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PSMD1
- Addgene plasmids for PSMD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMD1
Relevant External Links for PSMD1 Gene
- GeneLoc Exon Structure for
- PSMD1
Expression for PSMD1 Gene
This gene is overexpressed in Lymph node (8.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMD1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMD1
SOURCE GeneReport for Unigene cluster for PSMD1 Gene:
Hs.3887Evidence on tissue expression from TISSUES for PSMD1 Gene
- Nervous system(4.9)
- Liver(4.6)
- Lung(4.1)
- Kidney(3.5)
- Heart(3.1)
- Skin(2.9)
- Muscle(2.7)
- Eye(2.7)
- Intestine(2.5)
- Spleen(2.3)
- Blood(2.2)
- Lymph node(2.1)
- Pancreas(2)
Primer Products
-
OriGene qPCR primer pairs for PSMD1
-
OriGene qPCR primer pairs and template standards for PSMD1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD1 Gene
Orthologs for PSMD1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PSMD1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gm21972 31 |
|
OneToMany | |
| Psmd1 30 17 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | PSMD1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PSMD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PSMD1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PSMD1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Psmd1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | PSMD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PSMD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psmd1 30 |
|
||
| Str.6698 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | psmd1 30 31 |
|
OneToOne | |
| zgc55818 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rpn2 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001745 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | rpn-2 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL033C 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C09284g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RPN2 30 31 33 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G04810 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0224700 30 |
|
||
| Os.15239 30 |
|
||||
| Corn (Zea mays) |
Liliopsida | Zm.4098 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3236 31 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rpn2 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09450 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12342 30 |
|
- Species where no ortholog for PSMD1 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PSMD1: view image
Paralogs for PSMD1 Gene
Variants for PSMD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMD1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709655 | Benign: not provided | 231,109,341(+) | C/A | MISSENSE_VARIANT,INTRON_VARIANT | |
| 725269 | Benign: not provided | 231,109,129(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 779323 | Benign: not provided | 231,108,649(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 779324 | Benign: not provided | 231,123,613(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
| 779325 | Benign: not provided | 231,163,682(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2169n106 | CNV | deletion | 24896259 |
| dgv4181n100 | CNV | loss | 25217958 |
| esv1919954 | CNV | deletion | 18987734 |
| esv2245776 | CNV | deletion | 18987734 |
| esv2630508 | CNV | deletion | 19546169 |
| esv2721610 | CNV | deletion | 23290073 |
| esv3307622 | CNV | mobile element insertion | 20981092 |
| esv3339619 | CNV | insertion | 20981092 |
| esv3561143 | CNV | deletion | 23714750 |
| esv3561144 | CNV | deletion | 23714750 |
| esv4723 | CNV | loss | 18987735 |
| nsv1109336 | CNV | deletion | 24896259 |
| nsv1114177 | CNV | deletion | 24896259 |
| nsv1148926 | CNV | deletion | 26484159 |
| nsv214090 | CNV | deletion | 16902084 |
| nsv511843 | CNV | loss | 21212237 |
| nsv524208 | CNV | gain | 19592680 |
| nsv525474 | CNV | loss | 19592680 |
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)
Additional Variant Information for PSMD1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PSMD1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD1 Gene
Disorders for PSMD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| blepharochalasis |
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| cystic fibrosis |
|
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| bardet-biedl syndrome |
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Search PSMD1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PSMD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PSMD1 Gene
Publications for PSMD1 Gene
- 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 (Molecular biology of the cell 1996) 2 3 4 23
- ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. (PMID: 29804830) Turakhiya A … Buchberger A (Molecular cell 2018) 3 4
- An atomic structure of the human 26S proteasome. (PMID: 27428775) Huang X … Shi Y (Nature structural & molecular biology 2016) 3 4
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
ExternalLinks
Products for PSMD1 Gene
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