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PSMD1 Gene

protein-coding   GIFtS: 66
GCID: GC02P231921

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

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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)
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Aliases
Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 11 2     P1122
26S Proteasome Regulatory Subunit RPN22 3     Rpn22
26S Proteasome Regulatory Subunit S12 3     S12
26S Proteasome Subunit P1122 3     PSMD105
26S Proteasome Non-ATPase Regulatory Subunit 12     p285

External Ids:    HGNC: 95541   Entrez Gene: 57072   Ensembl: ENSG000001736927   OMIM: 3008805   UniProtKB: Q994603   

Export aliases for PSMD1 gene to outside databases

Previous GC identifers: GC02P229979 GC02P230653 GC02P231885 GC02P232124 GC02P231747 GC02P231629 GC02P223763


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 Chromatin IP Primers for PSMD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Ubiquitination2 at Lys136, Lys292, Lys302, Lys310, Lys720, Lys838, Lys890
  • Modification sites at PhosphoSitePlus

  • See PSMD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000309474   ENSP00000400483   ENSP00000406141   ENSP00000386932   ENSP00000390967  
     ENSP00000410061   ENSP00000362738  
    Reactome Protein details: Q99460

    PSMD1 Human Recombinant Protein Products:

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

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR016642 26S_Psome_Rpn2
     IPR016024 ARM-type_fold
     IPR002015 Proteasome/cyclosome_rpt

    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


    Find genes that share domains with PSMD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0030234enzyme regulator activity IEA--
         
    Find genes that share ontologies with PSMD1           About GenesLikeMe


    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 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PSMD1

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    miRTarBase miRNAs that target PSMD1:
    hsa-mir-331-3p (MIRT043445), hsa-mir-1180-3p (MIRT035921), hsa-mir-346 (MIRT042702), hsa-mir-423-3p (MIRT042491), hsa-mir-24-3p (MIRT030387), hsa-mir-149-5p (MIRT045451)

    Block miRNA regulation of human, mouse, rat PSMD1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PSMD1:
    hsa-miR-548aa hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidPSMD1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for PSMD1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    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--

    Find genes that share ontologies with PSMD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PSMD1 About   (see all 30)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1CDK-mediated phosphorylation and removal of Cdc6
    CDK-mediated phosphorylation and removal of Cdc60.94
    Destabilization of mRNA by AUF1 (hnRNP D0)0.88
    Regulation of activated PAK-2p34 by proteasome mediated degradation0.94
    G1/S DNA Damage Checkpoints0.87
    Ubiquitin-dependent degradation of Cyclin D10.94
    CDT1 association with the CDC6-ORC-origin complex0.87
    Ubiquitin-dependent degradation of Cyclin D0.94
    SCF(Skp2)-mediated degradation of p27/p210.86
    2Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Chks 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
    4Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    5Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90


    Find genes that share SuperPaths with PSMD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected Reactome Pathways for PSMD1 (see all 24)
        SCF(Skp2)-mediated degradation of p27/p21
    Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
    SCF-beta-TrCP mediated degradation of Emi1
    Ubiquitin-dependent degradation of Cyclin D1
    Orc1 removal from chromatin


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PSMD1
    Interactions:

        GeneGlobe Interaction Network for PSMD1

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

    Selected Interacting proteins for PSMD1 (Q994602, 3 ENSP000003094744) via UniProtKB, MINT, STRING, and/or I2D (see all 1038)
    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): Selected biological process terms (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--

    Find genes that share ontologies with PSMD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PSMD1

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



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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      QuantiFast Probe-based Assays in human, mouse, rat PSMD1

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 535):

    BQ435298 NM_002807 AA447682 BM504677 BU556730 BF222115 AU133645 CB160545 
    AI149236 BU838964 CF129255 CA434558 BI855915 BM795226 AU131438 AU131216 
    BP363171 BQ224859 BG941843 BM993746 BQ008378 BU682007 AL135218 CA440723 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PSMD1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    PSMD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSMD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.3887
        Custom PCR Arrays for PSMD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMD1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PSMD1 gene from Selected 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 83.07(n)
    96.96(a)
      424926  NM_001012600.2  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
    Regulatory particle non-ATPase 21
    65(a)3
    61.02(n)1
    67.33(a)1
      98F133
    434491  NM_001276128.11  NP_001263057.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpn-26
    Protein RPN-2, isoform a (rpn-2) mRNA, complete cd...
    36(a)
    1 ↔ 1
    III(6198902-6202627) WBGene00004459
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN2(YIL075C)4
    RPN21
    Subunit of the 26S proteasome, substrate of the N-acetyltransferase more4
    RPN21
    51.75(n)1
    45.08(a)1
      9(220700-217863)4
    8547351, 4  NP_012190.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G048101 AT1G04810 55.64(n)
    52.81(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

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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PSMD1 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSMD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PSMD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300880    OMIM disorders: --


    Find genes that share disorders with PSMD1           About GenesLikeMe

    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)
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    PubMed articles for PSMD1 gene, integrated from 10 sources (see all 122):
    (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. (Mol. Biol. Cell 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. (Mol. Med. 2010)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. A novel proteasome-interacting protein recruits the deubiquitinating enzyme UCH37 to 26S proteasomes. (PubMed id 16990800)1, 2 Hamazaki J....Murata S. (EMBO J. 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. (Nature 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. (Genome Res. 2004)
    7. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (J. Proteome Res. 2013)
    8. Identification of the hypoxia-inducible factor 2I+ nuclear interactome in melanoma cells reveals master proteins involved in melanoma development. (PubMed id 23275444)1 Steunou A.L....Nieto L. (amp 2013)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase that facilitates the DNA damage response. (PubMed id 23751493)1 Poulsen S.L....Mailand N. (J. Cell Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5707 HGNC: 9554 AceView: PSMD1 Ensembl:ENSG00000173692 euGenes: HUgn5707
    ECgene: PSMD1 Kegg: 5707 H-InvDB: PSMD1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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