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PSMD13 Gene

protein-coding   GIFtS: 64
GCID: GC11P000226

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

  See PSMD13-related disease
at  

(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, 131 2     26S Proteasome Non-ATPase Regulatory Subunit 132
26S Proteasome Regulatory Subunit P40.52 3     26S Proteasome Subunit P40.52
26S Proteasome Regulatory Subunit RPN92 3     HSPC0272
26S Proteasome Regulatory Subunit S112 3     Rpn92
S112 5     p40.52

External Ids:    HGNC: 95581   Entrez Gene: 57192   Ensembl: ENSG000001856277   OMIM: 6034815   UniProtKB: Q9UNM63   

Export aliases for PSMD13 gene to outside databases

Previous GC identifers: GC11P000459 GC11P000281 GC11M000945 GC11P000056


(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 PSMD13 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 a non-ATPase subunit of the
19S regulator. Two transcripts encoding different isoforms have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for PSMD13 Gene:
PSMD13 (proteasome (prosome, macropain) 26S subunit, non-ATPase, 13) is a protein-coding gene. Diseases associated with PSMD13 include spondylolisthesis.

UniProtKB/Swiss-Prot: PSD13_HUMAN, Q9UNM6
Function: Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of
ubiquitinated proteins

Gene Wiki entry for PSMD13 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_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSMD13 gene promoter:
         MEF-2   RREB-1   HTF   Pax-2   Olf-1   Pax-2a   Arnt   MEF-2A   COMP1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSMD13 promoter sequence
   Search Chromatin IP Primers for PSMD13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSMD13


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

PSMD13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMD13 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000226:  view genomic region     (about GC identifiers)

Start:
236,546 bp from pter      End:
252,984 bp from pter
Size:
16,439 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: PSD13_HUMAN, Q9UNM6 (See protein sequence)
Recommended Name: 26S proteasome non-ATPase regulatory subunit 13  
Size: 376 amino acids; 42945 Da
Subunit: Component of the PA700 complex
Secondary accessions: B3KT15 O75831 Q53XU2 Q9UNV3
Alternative splicing: 2 isoforms:  Q9UNM6-1   Q9UNM6-2   

Explore the universe of human proteins at neXtProt for PSMD13: NX_Q9UNM6

Explore proteomics data for PSMD13 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys99, Lys115, Lys122, Lys161, Lys174, Lys186, Lys252, Lys313, Lys321, Lys347
  • Modification sites at PhosphoSitePlus

  • See PSMD13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002808.3  NP_787128.2  

    ENSEMBL proteins: 
     ENSP00000436186   ENSP00000436795   ENSP00000396937   ENSP00000433364   ENSP00000434587  
     ENSP00000333811   ENSP00000372117   ENSP00000433115  
    Reactome Protein details: Q9UNM6

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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

    1 InterPro protein domain:
     IPR000717 PCI_dom

    Graphical View of Domain Structure for InterPro Entry Q9UNM6

    ProtoNet protein and cluster: Q9UNM6

    1 Blocks protein domain: IPB000717 Domain in components of the proteasome

    UniProtKB/Swiss-Prot: PSD13_HUMAN, Q9UNM6
    Similarity: Belongs to the proteasome subunit S11 family
    Similarity: Contains 1 PCI domain


    Find genes that share domains with PSMD13           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: PSD13_HUMAN, Q9UNM6
    Function: Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of
    ubiquitinated proteins

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PSMD13           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for PSMD13:
     Decreased TP53 protein express  Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content 
     Increased circadian period len 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PSMD13

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    miRTarBase miRNAs that target PSMD13:
    hsa-mir-183-5p (MIRT047134), hsa-mir-186-5p (MIRT045260), hsa-mir-615-3p (MIRT040064), hsa-mir-10a-5p (MIRT047716), hsa-mir-93-3p (MIRT038884), hsa-mir-10b-5p (MIRT047503)

    Block miRNA regulation of human, mouse, rat PSMD13 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PSMD13:
    hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidPSMD13 3' UTR sequence
    Inhib. RNA
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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
    cytoskeleton1
    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 IEA--
    GO:0022624proteasome accessory complex ISS--

    Find genes that share ontologies with PSMD13           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 PSMD13 About   (see all 19)  
    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
    3Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84


    Find genes that share SuperPaths with PSMD13           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PSMD13
        Remodeling of Adherens Junctions
    RAR-Gamma-RXR-Alpha Degradation

    3 GeneGo (Thomson Reuters) Pathways for PSMD13
        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 PSMD13
        Parkin-Ubiquitin Proteasomal System pathway
    Proteasome Degradation
    TNF-alpha/NF-kB Signaling Pathway


    Selected Reactome Pathways for PSMD13 (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 PSMD13):
        Proteasome
    Epstein-Barr virus infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PSMD13
    Interactions:

        Search GeneGlobe Interaction Network for PSMD13

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

    Selected Interacting proteins for PSMD13 (Q9UNM62, 3 ENSP000003969374) via UniProtKB, MINT, STRING, and/or I2D (see all 1018)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    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 PSMD13           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PSMD13 (PSD13)



    (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 PSMD13 gene (2 alternative transcripts): 
    NM_002817.3  NM_175932.2  

    Unigene Cluster for PSMD13:

    Proteasome (prosome, macropain) 26S subunit, non-ATPase, 13
    Hs.134688  [show with all ESTs]
    Unigene Representative Sequence: NM_175932
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532097(uc010qvr.1 uc001lol.2 uc001loo.2 uc001lon.2)
    ENST00000529372 ENST00000534590 ENST00000431206 ENST00000528906 ENST00000525665
    ENST00000527047 ENST00000352303 ENST00000382671 ENST00000526783 ENST00000533717
    ENST00000527982 ENST00000532025 ENST00000529679
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate PSMD13:
    hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidPSMD13 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB009398.1 AF083245.1 AF086708.1 AF107836.1 AF107837.1 AK094775.1 AK222895.1 AK295944.1 
    AK307447.1 AK314733.1 BC001100.2 BC001747.1 BT007307.1 BX647314.1 

    Selected DOTS entries (see all 33):

    DT.100881801  DT.100881789  DT.100841919  DT.455840  DT.100881794  DT.120712706  DT.100881787  DT.95273777 
    DT.120712612  DT.100881796  DT.99936865  DT.100804728  DT.100881804  DT.100881788  DT.120712547  DT.120712633 
    DT.120712634  DT.95273795  DT.91887985  DT.95273782  DT.120712583  DT.120712605  DT.120712710  DT.92409754 

    Selected AceView cDNA sequences (see all 650):

    CD367474 BM451618 BU729945 CR594908 BE503690 BQ057255 AK094775 CR604655 
    AA345552 BM981379 BM974776 AW161292 AI423217 BE385372 BE796895 BX380297 
    AA506623 BM915838 BM762498 BF063703 AI075626 BE385816 AI952380 BU685130 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PSMD13 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c · 14d
    SP1:                                            -     -                             -                                             
    SP2:        -                                   -     -                             -                                             
    SP3:                                            -     -                                                                           
    SP4:                                                                                -                                             
    SP5:                                                                                -     -     -     -                           


    ECgene alternative splicing isoforms for PSMD13

    (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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    PSMD13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATCCTCAC
    PSMD13 Expression
    About this image


    PSMD13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata
    PSMD13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSMD13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134688
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PSMD13 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psmd131 , 5 proteasome (prosome, macropain) 26S subunit, non-ATPase, more1, 5 89.98(n)1
    96.54(a)1
      7 (86.09 cM)5
    239971  NM_011875.41  NP_036005.11 
     1408819685 
    chicken
    (Gallus gallus)
    Aves PSMD131 proteasome (prosome, macropain) 26S subunit, non-ATPase, more 82.89(n)
    95.48(a)
      422990  XM_003641282.2  XP_003641330.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    85(a)
    84(a)
    many → 1
    many → 1
    1(77168530-77179541)
    3(127025687-127026817)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.34282 Xenopus laevis transcribed sequence with moderate similarity more 79.97(n)    CF522372.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563772 similar to proteasome (prosome, macropain) 26S subunit, more 77.81(n)   393922  BC049415.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rpn91 , 3 proteolysis and peptidolysis proteasome
    endopeptidase3
    Regulatory particle non-ATPase 91
    45(a)3
    52.99(n)1
    45.31(a)1
      95B13
    428021  NM_142920.31  NP_651177.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpn-91 rpn-9 48.92(n)
    42.82(a)
      174715  NM_064004.5  NP_496405.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN9(YDR427W)4
    RPN91
    Non-ATPase regulatory subunit of the 26S proteasome, more4
    RPN91
    44.85(n)1
    33.15(a)1
      4(1322205-1323386)4
    8520371, 4  NP_010715.31  NP_010715.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G190061 AT4G19006 51.8(n)
    38.92(a)
      827638  NM_148355.4  NP_680721.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g05113001 Os01g0511300 50.27(n)
    40(a)
      4324031  NM_001049707.1  NP_001043172.1 


    ENSEMBL Gene Tree for PSMD13 (if available)
    TreeFam Gene Tree for PSMD13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSMD13 gene
    1 SIMAP similar gene for PSMD13 using alignment to 8 protein entries:     PSD13_HUMAN (see all proteins):
    DKFZp686H16220

    Find genes that share paralogs with PSMD13           About GenesLikeMe



    (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 PSMD13 (see all 490)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401034361,2
    --172704(+) GTCCTC/GGTCCC 1 -- us2k10--------
    rs1493720811,2
    --172707(+) CTGGTC/GCCTGC 1 -- us2k10--------
    rs776693531,2
    C,F--238447(+) ATCTGC/TTTTAG 2 -- int11Minor allele frequency- T:0.04EA 120
    rs1892372441,2
    C--238481(+) GACTGC/GTTAGT 2 -- int10--------
    rs112460301,2
    C,F--238496(+) ATTTAG/CTATCC 2 -- int15Minor allele frequency- C:0.14NA CSA EA 246
    rs1417189371,2
    C--238497(+) TTTAGC/TATCCC 2 -- int10--------
    rs1508512761,2
    C--238527(+) GCGGCC/TGGGCG 2 -- int10--------
    rs1818799981,2
    --238605(+) GGCAGA/GGGTTG 2 -- int10--------
    rs22831441,2
    C,F--238689(+) AGAAAT/CGCATT 2 -- int17Minor allele frequency- C:0.15NA CSA EA 251
    rs1438740811,2
    --238768(+) TTCAGC/TATCCA 2 -- int10--------

    HapMap Linkage Disequilibrium report for PSMD13 (236546 - 252984 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PSMD13 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7632CNV Insertion18451855
    nsv516439CNV Loss19592680
    nsv896437CNV Loss21882294
    esv32593CNV Loss17666407
    nsv896445CNV Loss21882294
    nsv896447CNV Loss21882294
    nsv896441CNV Loss21882294
    nsv527533CNV Gain19592680
    nsv896440CNV Gain21882294
    nsv467631CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSMD13
    DNA2.0 Custom Variant and Variant Library Synthesis for PSMD13

    (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: 603481    OMIM disorders: --

    1 disease for PSMD13:    
    About MalaCards
    spondylolisthesis

    1 disease from the University of Copenhagen DISEASES database for PSMD13:
    Spondylolisthesis

    Find genes that share disorders with PSMD13           About GenesLikeMe


    Export disorders for PSMD13 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 PSMD13 gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with PSMD13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and functional analysis of p28 (Nas6p) and p40.5 (Nas7p), two novel regulatory subunits of the 26S proteasome. (PubMed id 9714768)1, 2, 3, 9 Hori T.... Tanaka K. (Gene 1998)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. 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)
    4. Identification, molecular cloning, and characterization of subunit 11 of the human 26S proteasome. (PubMed id 10225435)1, 2 Hoffman L.... Rechsteiner M. (FEBS Lett. 1999)
    5. Structure and functions of the 20S and 26S proteasomes. (PubMed id 8811196)1, 3 Coux O....Goldberg A.L. (Annu. Rev. Biochem. 1996)
    6. Characterization of a bidirectional promoter shared between two human genes related to aging: SIRT3 and PSMD13. (PubMed id 17059877)1, 9 Bellizzi D....De Benedictis G. (Genomics 2007)
    7. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PubMed id 24026423)1 Shameer K....Kullo I.J. (Hum. Genet. 2014)
    8. 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)
    9. 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)
    10. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 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: 5719 HGNC: 9558 AceView: PSMD13 Ensembl:ENSG00000185627 euGenes: HUgn5719
    ECgene: PSMD13 Kegg: 5719 H-InvDB: PSMD13

    (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 PSMD13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PSMD13 gene:
    Search GeneIP for patents involving PSMD13

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



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