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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PSMD1 Gene

protein-coding   GIFtS: 65
GCID: GC02P231921

Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase,...

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 11 2     26S Proteasome Non-ATPase Regulatory Subunit 12
26S Proteasome Regulatory Subunit RPN22 3     P1122
26S Proteasome Regulatory Subunit S12 3     Rpn22
26S Proteasome Subunit P1122 3     S12

External Ids:    HGNC: 95541   Entrez Gene: 57072   Ensembl: ENSG000001736927   UniProtKB: Q994603   
ORGUL members:         
NONCODE14:n409659      

Export aliases for PSMD1 gene to outside databases

Previous GC identifers: GC02P229979 GC02P230653 GC02P231885 GC02P232124 GC02P231747 GC02P231629 GC02P223763


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (prosome, macropain) 26S subunit, non-ATPase, 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with PSMD1 include pyloric stenosis, and huntington's disease, and among its related super-pathways are Regulation of APC/C activators between G1/S and early anaphase and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include enzyme regulator activity.

UniProtKB/Swiss-Prot: PSMD1_HUMAN, Q99460
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PSMD1 gene promoter:
         CREB   AP-1   deltaCREB   ATF-2   MIF-1   c-Jun   AP-2gamma   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PSMD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PSMD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSMD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

PSMD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P231921:  view genomic region     (about GC identifiers)

Start:
231,921,578 bp from pter      End:
232,037,541 bp from pter
Size:
115,964 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PSMD1_HUMAN, Q99460 (See protein sequence)
Recommended Name: 26S proteasome non-ATPase regulatory subunit 1  
Size: 953 amino acids; 105836 Da
Subunit: Interacts with ADRM1
Sequence caution: Sequence=AAH01053.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH14013.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH39845.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH47897.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH64398.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH73833.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: B8ZZH9 Q24JU0 Q53TI2 Q6GMU5 Q6P2P4 Q6PJM7 Q6PKG9 Q86VU1 Q8IV79
Alternative splicing: 2 isoforms:  Q99460-1   Q99460-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PSMD1: NX_Q99460

Explore proteomics data for PSMD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99460

  • PSMD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PSMD1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001177966.1  NP_002798.2  

    ENSEMBL proteins: 
     ENSP00000309474   ENSP00000400483   ENSP00000406141   ENSP00000386932   ENSP00000390967  
     ENSP00000410061   ENSP00000362738  
    Reactome Protein details: Q99460
    Human Recombinant Protein Products for PSMD1: 
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    Cloud-Clone Corp. Proteins for PSMD1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex TAS8811196
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0005838proteasome regulatory particle TAS8816993
    GO:0022624proteasome accessory complex ISS--

    PSMD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PSM: Proteasome (prosome, macropain) subunits

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR016642 26S_Psome_Rpn2
     IPR002015 APC_proteasome
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q99460

    ProtoNet protein and cluster: Q99460

    1 Blocks protein domain: IPB002015 Proteasome/cyclosome

    UniProtKB/Swiss-Prot: PSMD1_HUMAN, Q99460
    Similarity: Belongs to the proteasome subunit S1 family
    Similarity: Contains 10 PC repeats


    PSMD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PSMD1_HUMAN, Q99460
    Function: Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of
    ubiquitinated proteins

         Genatlas biochemistry entry for PSMD1:
    multicatalytic proteinase complex (prosome,macropain,26S),19/22S regulator of proteasome,non ATPase subunit,p112-L
    (105kDa) and p112-S (90kDa)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0030234enzyme regulator activity IEA--
         
    PSMD1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for PSMD1:
     Decreased Hepatitis C virus re  Decreased homologous recombina  Decreased viability  Decreased viability of wild-ty 
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PSMD1 About   (see all 33)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1CDK-mediated phosphorylation and removal of Cdc6
    APC/C:Cdc20 mediated degradation of mitotic proteins0.94
    Removal of licensing factors from origins0.89
    Cdc20:Phospho-APC/C mediated degradation of Cyclin A0.94
    Regulation of DNA replication0.89
    CDK-mediated phosphorylation and removal of Cdc60.94
    Cyclin E associated events during G1/S transition 0.89
    Regulation of activated PAK-2p34 by proteasome mediated degradation0.94
    Switching of origins to a post-replicative state0.89
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    4Chks in Checkpoint Regulation
    Chks in Checkpoint Regulation0.59
    SREBP Proteolysis0.43
    G2-M Phase Transition0.59
    DNA Repair Mechanisms0.32
    Estrogen-mediated S-Phase Entry0.55
    5Metabolism of mRNA
    Metabolism of RNA0.92
    Metabolism of mRNA0.92

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for PSMD1
        Immune response Antigen presentation by MHC class I
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    5/19 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PSMD1 (see all 19)
        Remodeling of Adherens Junctions
    CDK5 Pathway
    Estrogen-mediated S-Phase Entry
    G2-M Phase Transition
    DNA Repair Mechanisms

    3 GeneGo (Thomson Reuters) Pathways for PSMD1
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Immune response Antigen presentation by MHC class I

    3 BioSystems Pathways for PSMD1
        Parkin-Ubiquitin Proteasomal System pathway
    Proteasome Degradation
    TNF-alpha/NF-kB Signaling Pathway

    5/74        Reactome Pathways for PSMD1 (see all 74)
        Orc1 removal from chromatin
    CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway
    CDT1 association with the CDC6:ORC:origin complex
    Autodegradation of the E3 ubiquitin ligase COP1


    2         Kegg Pathways  (Kegg details for PSMD1):
        Proteasome
    Epstein-Barr virus infection


    PSMD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PSMD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/994 Interacting proteins for PSMD1 (Q994602, 3 ENSP000003094744) via UniProtKB, MINT, STRING, and/or I2D (see all 994)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMC5P621952, 3, ENSP000003105724MINT-4050722 MINT-7945693 MINT-7230300 MINT-7947479 I2D: score=6 STRING: ENSP00000310572
    PSMC4P436862, 3, ENSP000001578124MINT-4050722 MINT-7945693 MINT-7230300 MINT-7947479 I2D: score=5 STRING: ENSP00000157812
    PSMC1P621912, 3, ENSP000002613034MINT-4050722 MINT-7945693 MINT-7230300 MINT-7947479 I2D: score=4 STRING: ENSP00000261303
    PSMD12O002322, 3, ENSP000003484424MINT-4050722 MINT-7945693 MINT-7230300 MINT-7947479 I2D: score=4 STRING: ENSP00000348442
    PSMC3P179802, 3, ENSP000002988524MINT-4050722 MINT-7945693 MINT-7230300 MINT-7947479 I2D: score=3 STRING: ENSP00000298852
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000209protein polyubiquitination TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--

    PSMD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PSMD1

    1 DrugBank Compound for PSMD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bortezomib-- 179324-69-7targetinhibitor20954323 17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about PSMD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PSMD1 gene (2 alternative transcripts): 
    NM_001191037.1  NM_002807.3  

    Unigene Cluster for PSMD1:

    Proteasome (prosome, macropain) 26S subunit, non-ATPase, 1
    Hs.3887  [show with all ESTs]
    Unigene Representative Sequence: NM_002807
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308696(uc002vrn.2 uc002vrm.2 uc010fxu.2) ENST00000431051
    ENST00000440838 ENST00000409643 ENST00000444007 ENST00000447633 ENST00000488354
    ENST00000467792 ENST00000477120 ENST00000481003 ENST00000491229 ENST00000373635

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK307415.1 AK312528.1 BC001053.2 BC007535.1 BC014013.2 BC020223.1 BC032445.1 BC039845.1 
    BC047897.1 BC064398.1 BC073833.1 BC094720.1 BC112344.1 BC114434.1 D44466.1 NR_034059.1 

    24/32 DOTS entries (see all 32):

    DT.101984903  DT.448533  DT.102832678  DT.120984408  DT.97799346  DT.120984544  DT.120984410  DT.95265701 
    DT.100884498  DT.95265723  DT.100844567  DT.120984435  DT.456402  DT.100884507  DT.120984476  DT.92455469 
    DT.95146966  DT.100884508  DT.120984379  DT.120984396  DT.92455455  DT.100772258  DT.120984398  DT.120984434 

    24/535 AceView cDNA sequences (see all 535):

    BC020223 BU500882 BQ955201 BM979110 BC064398 BP346184 BM459929 BX384109 
    AU133340 BE888449 BU675198 BM788040 BM786948 AL521032 CA440792 CB161737 
    W74535 AI917083 AI149236 BU838964 CF129255 CA434558 BI855915 BM795226 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PSMD1 expression in normal human tissues (normalized intensities)      PSMD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCGTTGCC
    PSMD1 Expression
    About this image


    PSMD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See PSMD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PSMD1

    SOURCE GeneReport for Unigene cluster: Hs.3887
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PSMD1 gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psmd11 , 5 proteasome (prosome, macropain) 26S subunit, non-ATPase, more1, 5 91.05(n)1
    99.06(a)1
      1 (43.94 cM)5
    702471  NM_027357.21  NP_081633.11 
     860643875 
    chicken
    (Gallus gallus)
    Aves PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, more 83(n)
    97.27(a)
      424926  NM_001012600.1  NP_001012618.1 
    lizard
    (Anolis carolinensis)
    Reptilia PSMD16
    proteasome (prosome, macropain) 26S subunit, non-A...
    95(a)
    1 ↔ 1
    GL343433.1(485927-622095)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB201011.22   -- 79.49(n)    CB201011.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558182 similar to proteasome (prosome, macropain) 26S subunit, more 79.55(n)   394159  BC045463.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rpn21 , 3 proteolysis and peptidolysis proteasome
    endopeptidase3
    CG11888-PA1
    65(a)3
    61.05(n)1
    66.81(a)1
      98F133
    434491  NM_143420.21  NP_651677.21 
    worm
    (Caenorhabditis elegans)
    Secernentea rpn-26
    26S proteasome non-ATPase regulatory subunit 1
    36(a)
    1 ↔ 1
    III(6198902-6202627)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN2(YIL075C)4
    RPN21
    Subunit of the 26S proteasome, substrate of the N-acetyltransferase more4
    Rpn2p1
    51.84(n)1
    45.6(a)1
      9(220700-217863)4
    8547351, 4  NP_012190.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G048101 26S proteasome regulatory subunit N2 55.47(n)
    52.39(a)
      839409  NM_100359.2  NP_171973.1 
    rice
    (Oryza sativa)
    Liliopsida Os.152392 Oryza sativa (japonica cultivar-group) OsRPN2a mRNA more 72.53(n)    AK121754.1 


    ENSEMBL Gene Tree for PSMD1 (if available)
    TreeFam Gene Tree for PSMD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1835 SNPs in PSMD1 are shown (see all 1835)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1485787901,2
    Cuntested1232028424(+) CAAAAA/GAAAAA 4 K E int1 nc-transcript-variantmis10--------
    rs1898826671,2
    --231919720(+) TCAAGC/TGATTC 3 -- us2k10--------
    rs2006158891,2
    C--231919771(+) CGCCAC/TCACAC 3 -- us2k10--------
    rs1425637851,2
    C--231919914(+) CGCCCA/GGCCAG 3 -- us2k10--------
    rs1119696411,2
    C,F--231919947(+) CCCACG/CACCCC 3 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1458860641,2
    --231920176(+) GAGGCC/TGAGGC 3 -- us2k10--------
    rs1127814091,2
    C,F--231920207(+) AGATCA/GAGACC 3 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs1811112341,2
    C--231920312(+) ACTGAA/GCAGGA 3 -- us2k10--------
    rs1846739511,2
    --231920387(+) TGGGTA/GGCAGA 3 -- us2k10--------
    rs1115391051,2
    C,F--231920428(+) GAAGTA/GCCTCT 3 -- us2k12Minor allele frequency- G:0.10CSA WA 120

    HapMap Linkage Disequilibrium report for PSMD1 (231921578 - 232037541 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for PSMD1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv4723CNV Deletion18987735
    esv1919954CNV Deletion18987734
    esv2630508CNV Deletion19546169
    esv2245776CNV Deletion18987734
    esv2721610CNV Deletion23290073
    esv271896CNV Insertion20981092
    nsv214090CNV Loss16902084
    nsv511843CNV Loss21212237
    nsv525474CNV Loss19592680
    nsv875958CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    4 diseases for PSMD1:    About MalaCards
    pyloric stenosis    huntington's disease    parkinson's disease    neuroblastoma


    PSMD1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): PSMD1
    Human Genome Epidemiology (HuGE) Navigator: PSMD1 (4 documents)

    Export disorders for PSMD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PSMD1 gene, integrated from 9 sources (see all 120):
    (articles sorted by number of sources associating them with PSMD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of p112, the largest regulatory subunit of the human 26s proteasome, and functional analysis of its yeast homologue, sen3p. (PubMed id 8816993)1, 2, 3, 9 Yokota K.... Tanaka K. (1996)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. A novel proteasome-interacting protein recruits the deubiquitinating enzyme UCH37 to 26S proteasomes. (PubMed id 16990800)1, 2 Hamazaki J....Murata S. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    8. Identification of the hypoxia-inducible factor 2a nucl ear interactome in melanoma cells reveals master proteins involved in melanoma d evelopment. (PubMed id 23275444)1 Steunou A.L....Nieto L. (2013)
    9. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    10. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase tha t facilitates the DNA damage response. (PubMed id 23751493)1 Poulsen S.L....Mailand N. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5707 HGNC: 9554 AceView: PSMD1 Ensembl:ENSG00000173692 euGenes: HUgn5707
    ECgene: PSMD1 Kegg: 5707 H-InvDB: PSMD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PSMD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PSMD1 gene:
    Search GeneIP for patents involving PSMD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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