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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 Regulatory Subunit RPN2 3 4
  • 26S Proteasome Regulatory Subunit S1 3 4
  • 26S Proteasome Subunit P112 3 4
  • 26S Proteasome Non-ATPase Regulatory Subunit 1 3
  • P112 3
  • Rpn2 3
  • S1 3

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. 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. Among its related pathways are RET signaling and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include binding and enzyme regulator activity.

UniProtKB/Swiss-Prot for PSMD1 Gene

  • Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.

Gene Wiki entry for PSMD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMD1 Gene

Genomics for PSMD1 Gene

Regulatory Elements for PSMD1 Gene

Enhancers for PSMD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F231015 0.5 ENCODE 11.3 -41.1 -41051 0.5 FOS C2orf72 PSMD1 SPATA3
GH02F231007 0.5 ENCODE 11.3 -46.8 -46775 4.7 DRAP1 ZGPAT ARID4B MXD4 PRDM10 ZNF48 ZKSCAN1 KAT8 C2orf72 PSMD1 SPATA3
GH02F230847 0.7 Ensembl ENCODE 10.9 -208.8 -208763 0.6 ARID4B DMAP1 ZNF48 ZNF143 FOS JUNB MXD4 MIER2 REST KAT8 LOC151484 SPATA3 SPATA3-AS1 ENSG00000230385 PSMD1 C2orf72 ENSG00000270891 ITM2C
GH02F230850 0.2 ENCODE 10.8 -206.6 -206644 0.2 HDGF CTCF PKNOX1 SIN3A ZNF48 RAD21 GLIS2 EGR1 POLR2A ZNF143 LOC151484 ENSG00000230385 SPATA3 SPATA3-AS1 PSMD1 C2orf72 ENSG00000270891 ITM2C
GH02F230922 1.2 FANTOM5 Ensembl ENCODE 10.8 -132.1 -132061 3.9 HDGF TBP PKNOX1 TBL1XR1 SIN3A BMI1 RAD21 RFX5 GLIS2 EGR1 GPR55 SPATA3 SPATA3-AS1 LOC151484 PSMD1 ENSG00000283164 GC02M230912
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PSMD1 on UCSC Golden Path with GeneCards custom track

Promoters for PSMD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000609215 337 2000 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3

Genomic Location for PSMD1 Gene

Chromosome:
2
Start:
231,056,864 bp from pter
End:
231,172,827 bp from pter
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 StructureGene 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
    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:
    • Interacts with ADRM1.
    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

Post-translational modifications for PSMD1 Gene

  • Ubiquitination at Lys 20, Lys 136, Lys 292, Lys 302, Lys 310, Lys 838, and Lys 890
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PSMD1 Gene

Domains & Families for PSMD1 Gene

Gene Families for PSMD1 Gene

Suggested Antigen Peptide Sequences for PSMD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99460

UniProtKB/Swiss-Prot:

PSMD1_HUMAN :
  • Belongs to the proteasome subunit S1 family.
  • Contains 10 PC repeats.
Family:
  • Belongs to the proteasome subunit S1 family.
Similarity:
  • Contains 10 PC repeats.
genes like me logo Genes that share domains with PSMD1: view

Function for PSMD1 Gene

Molecular function for PSMD1 Gene

GENATLAS Biochemistry:
multicatalytic proteinase complex (prosome,macropain,26S),19/22S regulator of proteasome,non ATPase subunit,p112-L (105kDa) and p112-S (90kDa)
UniProtKB/Swiss-Prot Function:
Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.

Gene Ontology (GO) - Molecular Function for PSMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 contributes_to endopeptidase activity IBA --
GO:0030234 enzyme regulator activity IEA --
genes like me logo Genes that share ontologies with PSMD1: view
genes like me logo Genes that share phenotypes with PSMD1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSMD1

Flow Cytometry Products

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
Jensen Localization Image for PSMD1 Gene COMPARTMENTS Subcellular localization image for PSMD1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
cytoskeleton 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA,IDA 17323924
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005838 proteasome regulatory particle TAS 8816993
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

SuperPathways for PSMD1 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
.32
2 RET signaling
3 Chks in Checkpoint Regulation
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMD1: view

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

(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 794
carfilzomib Approved Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
MLN-9708 Pharma 0
OPROZOMIB Pharma 0
genes like me logo Genes that share compounds with PSMD1: view

Transcripts for PSMD1 Gene

Unigene Clusters for PSMD1 Gene

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSMD1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PSMD1 Gene

GeneLoc Exon Structure for
PSMD1
ECgene alternative splicing isoforms for
PSMD1

Expression for PSMD1 Gene

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



Protein tissue co-expression partners for PSMD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMD1 Gene:

PSMD1

SOURCE GeneReport for Unigene cluster for PSMD1 Gene:

Hs.3887
genes like me logo Genes that share expression patterns with PSMD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMD1 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm21972 35
  • 96 (a)
OneToMany
Psmd1 34 16 35
  • 91.05 (n)
cow
(Bos Taurus)
Mammalia PSMD1 34 35
  • 94.12 (n)
dog
(Canis familiaris)
Mammalia PSMD1 34 35
  • 94.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD1 35
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmd1 34
  • 90.73 (n)
chicken
(Gallus gallus)
Aves PSMD1 34 35
  • 83.07 (n)
lizard
(Anolis carolinensis)
Reptilia PSMD1 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmd1 34
  • 79.85 (n)
Str.6698 34
zebrafish
(Danio rerio)
Actinopterygii psmd1 34 35
  • 76.8 (n)
zgc55818 34
fruit fly
(Drosophila melanogaster)
Insecta Rpn2 36 34 35
  • 61.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001745 34
  • 60.86 (n)
worm
(Caenorhabditis elegans)
Secernentea rpn-2 35
  • 36 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL033C 34
  • 52.11 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09284g 34
  • 51.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN2 34 35 37
  • 51.75 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04810 34
  • 55.64 (n)
rice
(Oryza sativa)
Liliopsida Os08g0224700 34
  • 56.43 (n)
Os.15239 34
corn
(Zea mays)
Liliopsida Zm.4098 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3236 35
  • 62 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn2 34
  • 53.61 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09450 34
  • 53.49 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12342 34
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)

Paralogs for PSMD1 Gene

No data available for Paralogs for PSMD1 Gene

Variants for PSMD1 Gene

Sequence variations from dbSNP and Humsavar for PSMD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10164622 -- 231,106,130(+) GCTGA(A/G)ATTTG intron-variant
rs10175524 -- 231,104,065(+) TCCTA(A/C)TCATG intron-variant
rs10187149 -- 231,125,657(+) CCCAT(A/C)GACTT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10188838 -- 231,074,700(+) GCTTA(C/T)TTTTA intron-variant
rs10191678 -- 231,107,342(+) CAGCA(A/G)TAGAG intron-variant

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)

Relevant External Links for PSMD1 Gene

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

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

Disorders for PSMD1 Gene

Relevant External Links for PSMD1

Genetic Association Database (GAD)
PSMD1
Human Genome Epidemiology (HuGE) Navigator
PSMD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMD1

No disorders were found for PSMD1 Gene.

No data available for MalaCards , 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. (Mol. Biol. Cell 1996) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X. … Huang L. (Biochemistry 2007) 3 4 64
  5. A novel proteasome-interacting protein recruits the deubiquitinating enzyme UCH37 to 26S proteasomes. (PMID: 16990800) Hamazaki J. … Murata S. (EMBO J. 2006) 3 4 64

Products for PSMD1 Gene

Sources for PSMD1 Gene

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