PSMD1 Gene (Protein Coding)

Proteasome 26S Subunit, Non-ATPase 1

GC02P231056
GIFtS:
41
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

  • Proteasome 26S Subunit, Non-ATPase 1 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 1 2 3
  • 26S Proteasome Non-ATPase Regulatory Subunit 1 3 4
  • 26S Proteasome Regulatory Subunit RPN2 3 4
  • 26S Proteasome Regulatory Subunit S1 3 4
  • 26S Proteasome Subunit P112 3 4
  • P112 2 3
  • Rpn2 2 3
  • S1 2 3
  • PSMD1 5

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. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]

GeneCards Summary for PSMD1 Gene

PSMD1 (Proteasome 26S Subunit, Non-ATPase 1) is a Protein Coding gene. Diseases associated with PSMD1 include Cystic Fibrosis and Bardet-Biedl Syndrome. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and CDK-mediated phosphorylation and removal of Cdc6. 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.

Gene Wiki entry for PSMD1 Gene

Additional gene information for PSMD1 Gene

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

Download GeneHancer 2017 data
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

Latest Assembly
chr2:231,056,845-231,173,116
(GRCh38/hg38)
Size:
116,272 bases
Orientation:
Plus strand

Previous Assembly
chr2:231,921,581-232,037,541
(GRCh37/hg19 by Entrez Gene)
Size:
115,961 bases
Orientation:
Plus strand

chr2:231,921,578-232,037,541
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for PSMD1 Gene

Proteins for PSMD1 Gene

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  • 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:
    • 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

    Alternative splice isoforms for PSMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMD1 Gene

Protein Expression for PSMD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PSMD1 Gene

  • Ubiquitination at Lys20, Lys136, Lys292, Lys302, Lys310, Lys720, Lys838, and Lys890
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

UniProtKB/Swiss-Prot:

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

Function for PSMD1 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for PSMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 contributes_to endopeptidase activity IBA 21873635
GO:0005515 protein binding IPI 16990800
GO:0030234 enzyme regulator activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16207813
genes like me logo Genes that share ontologies with PSMD1: view
genes like me logo Genes that share phenotypes with PSMD1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV 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

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 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMD1 Gene

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 --
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

PathCards logo

SuperPathways for PSMD1 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
Activation of APC/C and APC/C-Cdc20 mediated degradation of mitotic proteins
.95
Cdc20-Phospho-APC/C mediated degradation of Cyclin A
.95
Autodegradation of the E3 ubiquitin ligase COP1
.95
Stabilization of p53
.95
Regulation of activated PAK-2p34 by proteasome mediated degradation
.94
Regulation of Apoptosis
.94
CDK-mediated phosphorylation and removal of Cdc6
.94
Ubiquitin-dependent degradation of Cyclin D
.94
Ubiquitin-dependent degradation of Cyclin D1
.94
Orc1 removal from chromatin
.94
Regulation of DNA replication
.94
Switching of origins to a post-replicative state
.94
Cyclin A-Cdk2-associated events at S phase entry
.93
Cyclin E associated events during G1/S transition
.93
APC/C-Cdc20 mediated degradation of Securin
.93
APC/C-Cdh1 mediated degradation of Cdc20 and other APC/C-Cdh1 targeted proteins in late mitosis/early G1
.93
APC/C-mediated degradation of cell cycle proteins
.93
Regulation of APC/C activators between G1/S and early anaphase
.93
Regulation of mitotic cell cycle
.93
DNA Replication
.93
Synthesis of DNA
.93
Vpu mediated degradation of CD4
.93
Autodegradation of Cdh1 by Cdh1-APC/C
.91
SCF-beta-TrCP mediated degradation of Emi1
.91
p53-Independent DNA Damage Response
.91
p53-Independent G1/S DNA damage checkpoint
.91
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
.91
ABC transporter disorders
.91
Disorders of transmembrane transporters
.91
Defective CFTR causes cystic fibrosis
.90
Assembly of the pre-replicative complex
.90
Hedgehog ligand biogenesis
.90
Hh mutants abrogate ligand secretion
.90
APC/C-Cdc20 mediated degradation of mitotic proteins
.89
APC-Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
.89
Vif-mediated degradation of APOBEC3G
.89
Degradation of GLI1 by the proteasome
.89
Degradation of GLI2 by the proteasome
.89
GLI3 is processed to GLI3R by the proteasome
.89
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
.88
Degradation of AXIN
.88
Cellular response to hypoxia
.87
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
.87
Regulation of Hypoxia-inducible Factor (HIF) by oxygen
.87
CDT1 association with the CDC6-ORC-origin complex
.87
Hh mutants that dont undergo autocatalytic processing are degraded by ERAD
.87
AUF1 (hnRNP D0) binds and destabilizes mRNA
.86
p53-Dependent G1 DNA Damage Response
.86
p53-Dependent G1/S DNA damage checkpoint
.86
SCF(Skp2)-mediated degradation of p27/p21
.86
Removal of licensing factors from origins
.86
NIK-->noncanonical NF-kB signaling
.85
Dectin-1 mediated noncanonical NF-kB signaling
.84
G1/S DNA Damage Checkpoints
.84
Degradation of DVL
.83
Cross-presentation of soluble exogenous antigens (endosomes)
.82
The role of GTSE1 in G2/M progression after G2 checkpoint
.81
Regulation of ornithine decarboxylase (ODC)
.81
DNA Replication Pre-Initiation
.80
M/G1 Transition
.80
Proteasome
.80
S Phase
.78
Activation of NF-kappaB in B cells
.77
Asymmetric localization of PCP proteins
.74
FCERI mediated NF-kB activation
.72
Regulation of RAS by GAPs
.70
PCP/CE pathway
.70
Beta-catenin independent WNT signaling
.64
Degradation of beta-catenin by the destruction complex
.64
Regulation of mRNA stability by proteins that bind AU-rich elements
.63
Metabolism of polyamines
.60
ABC-family proteins mediated transport
.58
TNFR2 non-canonical NF-kB pathway
.58
MAPK6/MAPK4 signaling
.57
Proteasome Degradation
.56
UCH proteinases
.47
Canonical Wnt Pathway
.31
Apoptosis
.31
Programmed Cell Death
.31
2 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
3 Chks in Checkpoint Regulation
Chks in Checkpoint Regulation
.59
G2-M Phase Transition
.59
Estrogen-mediated S-Phase Entry
.55
SREBP Proteolysis
.43
DNA Repair Mechanisms
.32
Parkinson's Disease Pathway
.31
4 HIV Life Cycle
HIV Infection
.64
Infectious disease
.61
Host Interactions of HIV factors
.57
Disease
.45
Diseases of signal transduction
.43
5 Pathways of neurodegeneration - multiple diseases
Alzheimer disease
.65
Pathways of neurodegeneration - multiple diseases
.65
Amyotrophic lateral sclerosis
.54
Huntington disease
.50
genes like me logo Genes that share pathways with PSMD1: view

Pathways by source for PSMD1 Gene

1 Sino Biological pathway 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

Gene Ontology (GO) - Biological Process for PSMD1 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:0006521 regulation of cellular amino acid metabolic process 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

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(4) Drugs for PSMD1 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 926
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
Oprozomib Investigational Pharma 0
MLN-9708 Pharma 0
genes like me logo Genes that share compounds with PSMD1: view

Transcripts for PSMD1 Gene

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mRNA/cDNA for PSMD1 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
37 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD1

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

No ASD Table

Relevant External Links for PSMD1 Gene

GeneLoc Exon Structure for
PSMD1

Expression for PSMD1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMD1 Gene

mRNA expression in normal human tissues for PSMD1 Gene
mRNA expression by GTEx for PSMD1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for PSMD1 Gene



Protein tissue co-expression partners 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.3887

Evidence on tissue expression from TISSUES for PSMD1 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Lung(4)
  • Kidney(3.4)
  • Heart(3)
  • Skin(2.8)
  • Muscle(2.6)
  • Eye(2.6)
  • Intestine(2.4)
  • Spleen(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PSMD1: view

Primer products for research

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.

Orthologs for PSMD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PSMD1 30 31
  • 99.69 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gm21972 31
  • 96 (a)
 OneToMany
Psmd1 30 17 31
  • 91.05 (n)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia PSMD1 31
  • 96 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PSMD1 30 31
  • 94.12 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PSMD1 30 31
  • 94.05 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PSMD1 31
  • 94 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Psmd1 30
  • 90.73 (n)
Chicken
(Gallus gallus)
 Aves PSMD1 30 31
  • 83.07 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PSMD1 31
  • 95 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia psmd1 30
  • 79.85 (n)
Str.6698 30
Zebrafish
(Danio rerio)
 Actinopterygii psmd1 30 31
  • 76.8 (n)
 OneToOne
zgc55818 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Rpn2 30 31 32
  • 61.02 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001745 30
  • 60.86 (n)
Worm
(Caenorhabditis elegans)
 Secernentea rpn-2 31
  • 36 (a)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACL033C 30
  • 52.11 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C09284g 30
  • 51.83 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RPN2 30 31 33
  • 51.75 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G04810 30
  • 55.64 (n)
Rice
(Oryza sativa)
 Liliopsida Os08g0224700 30
  • 56.43 (n)
Os.15239 30
Corn
(Zea mays)
 Liliopsida Zm.4098 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3236 31
  • 62 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rpn2 30
  • 53.61 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09450 30
  • 53.49 (n)
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

Paralogs for PSMD1 Gene

genes like me logo Genes that share paralogs with PSMD1: view

Variants for PSMD1 Gene

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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
rs115328679 Benign: not provided 231,109,129(+) C/T
NM_000867.5(HTR2B):c.834G>A (p.Pro278=) 		SYNONYMOUS_VARIANT,INTRON
rs141191699 Benign: not provided 231,078,656(+) C/T
NM_002807.4(PSMD1):c.1072-3C>T 		INTRON
rs1559236184 Uncertain Significance: not provided 231,113,819(+) T/C
NM_000867.5(HTR2B):c.463A>G (p.Ile155Val) 		MISSENSE_VARIANT,INTRON
rs35852025 Benign: not provided 231,163,682(+) A/G
NM_002807.4(PSMD1):c.2436A>G (p.Ala812=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs564438017 Uncertain Significance: Bardet-Biedl syndrome 231,109,227(+) T/A
NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter) 		NONSENSE,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PSMD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for PSMD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD1

SNP Genotyping and Copy Number Assays for research

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

Disorders for PSMD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSMD1 Gene - From: GCD

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
bardet-biedl syndrome
  • bbs
- elite association - COSMIC cancer census association via MalaCards
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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PSMD1: view

No data available for 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 (Molecular biology of the cell 1996) 2 3 4 23
  2. 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
  3. An atomic structure of the human 26S proteasome. (PMID: 27428775) Huang X … Shi Y (Nature structural & molecular biology 2016) 3 4
  4. 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
  5. 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

ExternalLinks

View latest publications for PSMD1 gene in Mastermind

Products for PSMD1 Gene