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

PSMD14 Gene

protein-coding   GIFtS: 64
GCID: GC02P162164

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

Aliases
Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 141 2     26S Proteasome Non-ATPase Regulatory Subunit 142
POH12 3 5     RPN112
26S Proteasome Regulatory Subunit RPN112 3     EC 3.4.19.-3
26S Proteasome-Associated PAD1 Homolog 12 3     EC 3.1.2.158
PAD12 5     

External Ids:    HGNC: 168891   Entrez Gene: 102132   Ensembl: ENSG000001152337   OMIM: 6071735   UniProtKB: O004873   

Export aliases for PSMD14 gene to outside databases

Previous GC identifers: GC02P160692 GC02P162128 GC02P162367 GC02P161990 GC02P161872 GC02P154049


(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 PSMD14 Gene:
This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that
catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S
regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene
is also located on the long arm of chromosome 2. (provided by RefSeq, Feb 2012)

GeneCards Summary for PSMD14 Gene: 
PSMD14 (proteasome (prosome, macropain) 26S subunit, non-ATPase, 14) is a protein-coding gene. Diseases associated with PSMD14 include hereditary renal cell carcinoma, and nephrotic syndrome, 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 proteasome binding and ubiquitin thiolesterase activity.

UniProtKB/Swiss-Prot: PSDE_HUMAN, O00487
Function: Metalloprotease component of the 26S proteasome that specifically cleaves 'Lys-63'-linked polyubiquitin
chains. The 26S proteasome is involved in the ATP-dependent degradation of ubiquitinated proteins. Plays a role
in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving
'Lys-63'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1
accumulation. Also involved in homologous recombination repair by promoting RAD51 loading

Gene Wiki entry for PSMD14 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 PSMD14 gene promoter:
         c-Fos   AP-1   ATF-2   FosB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSMD14 promoter sequence
   Search SABiosciences Chromatin IP Primers for PSMD14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSMD14


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

Entrez Gene cytogenetic band: 2q24.2   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q14.3

PSMD14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMD14 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P162164:  view genomic region     (about GC identifiers)

Start:
162,164,549 bp from pter      End:
162,268,228 bp from pter
Size:
103,680 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: PSDE_HUMAN, O00487 (See protein sequence)
Recommended Name: 26S proteasome non-ATPase regulatory subunit 14  
Size: 310 amino acids; 34577 Da
Subunit: Component of the lid subcomplex of the 19S proteasome regulatory particle complex (also named PA700
complex). The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. Interacts with
TXNL1
Secondary accessions: B3KNW2 O00176

Explore the universe of human proteins at neXtProt for PSMD14: NX_O00487

Explore proteomics data for PSMD14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00487

  • 4/7 DME Specific Peptides for PSMD14 (O00487) (see all 7)
     NTQQSFE  LAIKNVGK  INYRKNELE  ISSLALLKML 

    PSMD14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PSMD14 Protein Expression
    REFSEQ proteins: NP_005796.1  
    ENSEMBL proteins: 
     ENSP00000386541   ENSP00000399311  
    Reactome Protein details: O00487
    Human Recombinant Protein Products for PSMD14: 
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex TAS19214193
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0008541proteasome regulatory particle, lid subcomplex IMP--
    GO:0022624proteasome accessory complex ISS--

    PSMD14 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

    2 InterPro protein domains:
     IPR000555 JAB1_Mov34_MPN_PAD1
     IPR024969 Rpn11/EIF3F_C

    Graphical View of Domain Structure for InterPro Entry O00487

    ProtoNet protein and cluster: O00487

    1 Blocks protein domain: IPB000555 Mov34 family

    UniProtKB/Swiss-Prot: PSDE_HUMAN, O00487
    Similarity: Belongs to the peptidase M67A family. PSMD14 subfamily
    Similarity: Contains 1 MPN (JAB/Mov34) domain


    PSMD14 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: PSDE_HUMAN, O00487
    Function: Metalloprotease component of the 26S proteasome that specifically cleaves 'Lys-63'-linked polyubiquitin
    chains. The 26S proteasome is involved in the ATP-dependent degradation of ubiquitinated proteins. Plays a role
    in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving
    'Lys-63'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1
    accumulation. Also involved in homologous recombination repair by promoting RAD51 loading

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity TAS19214193
    GO:0005515protein binding ----
    GO:0008237metallopeptidase activity TAS19214193
    GO:0046872metal ion binding IEA--
    GO:0061133endopeptidase activator activity IMP18162577
         
    PSMD14 for ontologies           About GeneDecksing


    Phenotypes:
         8 GenomeRNAi human phenotypes for PSMD14:
     Cell cycle / mitosis defect  Decreased cell number  Decreased homologous recombina  Decreased influenza A H1N1 (A/ 
     Decreased influenza A/WSN/33 r  Decreased viability of wild-ty  G0/1 arrest  Increased cell death in breast 

    Animal Models:
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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 PSMD14 About   (see all 22)                                                                                              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
    SCF(Skp2)-mediated degradation of p27/p210.89
    Cdc20:Phospho-APC/C mediated degradation of Cyclin A0.94
    Removal of licensing factors from origins0.89
    CDK-mediated phosphorylation and removal of Cdc60.94
    Regulation of DNA replication0.89
    Regulation of activated PAK-2p34 by proteasome mediated degradation0.94
    Cyclin E associated events during G1/S transition 0.89
    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
    4Metabolism of mRNA
    Metabolism of RNA0.92
    Metabolism of mRNA0.92
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for PSMD14
        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

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PSMD14
        Remodeling of Adherens Junctions
    RAR-Gamma-RXR-Alpha Degradation

    1 Cell Signaling Technology (CST) Pathway for PSMD14
        Protein Stability

    3 GeneGo (Thomson Reuters) Pathways for PSMD14
        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

    1 BioSystems Pathway for PSMD14
        Parkin-Ubiquitin Proteasomal System pathway


    5/74        Reactome Pathways for PSMD14 (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 PSMD14):
        Proteasome
    Epstein-Barr virus infection


    PSMD14 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PSMD14

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

    5/609 Interacting proteins for PSMD14 (O004872, 3 ENSP000003865414) via UniProtKB, MINT, STRING, and/or I2D (see all 609)
    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): 5/27 biological process terms (GO ID links to tree view) (see all 27):    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:0000724double-strand break repair via homologous recombination IMP--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--

    PSMD14 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 PSMD14 (PSDE)

    Search CenterWatch for drugs/clinical trials and news about PSMD14 / PSDE

    (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 PSMD14 gene: 
    NM_005805.5  

    Unigene Cluster for PSMD14:

    Proteasome (prosome, macropain) 26S subunit, non-ATPase, 14
    Hs.740477  [show with all ESTs]
    Unigene Representative Sequence: AB209220
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409682(uc002ubu.2) ENST00000478123 ENST00000437630 ENST00000477232
    ENST00000492908
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209220.1 AK055128.1 AK091095.1 BC009524.1 BC066336.1 U86782.1 

    11 DOTS entries:

    DT.454530  DT.95307891  DT.422466  DT.40238609  DT.99939165  DT.100815485  DT.100815487  DT.101985697 
    DT.91761290  DT.95149152  DT.91761281 

    24/330 AceView cDNA sequences (see all 330):

    CA416413 AI150787 BU178023 CD513062 BE886981 BU159846 CA431624 BM550388 
    BQ772201 BM712859 BG435138 BQ691109 AI492110 AA306073 BQ011444 BM463227 
    CB145914 BU685744 AW102894 CB219174 CR617325 CR606475 BU615342 CK822271 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PSMD14    About this scheme

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


    ECgene alternative splicing isoforms for PSMD14

    (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

    PSMD14 expression in normal human tissues (normalized intensities)      PSMD14 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACATCAA
    PSMD14 Expression
    About this image


    PSMD14 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Gonad
             Primary Oocyte Primary Follicle

    See PSMD14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PSMD14

    SOURCE GeneReport for Unigene cluster: Hs.740477

    UniProtKB/Swiss-Prot: PSDE_HUMAN, O00487
    Tissue specificity: Widely expressed. Highest levels in heart and skeletal muscle

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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 PSMD14 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psmd141 , 5 proteasome (prosome, macropain) 26S subunit, non-ATPase, more1, 5 94.84(n)1
    100(a)1
      2 (35.56 cM)5
    590291  NM_021526.21  NP_067501.21 
     617116945 
    chicken
    (Gallus gallus)
    Aves PSMD141 proteasome (prosome, macropain) 26S subunit, non-ATPase, more 90.54(n)
    99.35(a)
      424189  NM_001031256.2  NP_001026427.2 
    lizard
    (Anolis carolinensis)
    Reptilia PSMD146
    proteasome (prosome, macropain) 26S subunit, non-A...
    99(a)
    1 ↔ 1
    GL343359.1(1112264-1171521)
    African clawed frog
    (Xenopus laevis)
    Amphibia psmd14-prov2 26S proteasome-associated pad1 homolog 84.73(n)    BC045094.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb23b042 Transcribed sequence with strong similarity to protein more 81.24(n)    CK354852.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rpn111 CG18174-PA 70.02(n)
    88.96(a)
      33738  NM_135061.3  NP_608905.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rpn-111 Protein RPN-11 66.12(n)
    76.14(a)
      173744  NM_062311.4  NP_494712.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN111 Rpn11p 61.29(n)
    68.42(a)
      850554   NP_116659.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G235401 26S proteasome non-ATPase regulatory subunit 14 69.81(n)
    80.19(a)
      832420  NM_122261.2  NP_197745.1 
    rice
    (Oryza sativa)
    Liliopsida AB037152.12   -- 74.69(n)    AB037152.1 


    ENSEMBL Gene Tree for PSMD14 (if available)
    TreeFam Gene Tree for PSMD14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PSMD14 gene
    1 SIMAP similar gene for PSMD14 using alignment to 4 protein entries:     PSDE_HUMAN (see all proteins):
    COPS5

    PSMD14 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PSMD14
    PGOHUM00000259800


    (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

    10/1511 SNPs in PSMD14 are shown (see all 1511)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1487104501,2
    --162162804(+) AAAGTC/TTGCAT 1 -- us2k10--------
    rs1903228461,2
    --162162839(+) GTTTCC/TGCTCA 1 -- us2k10--------
    rs1423598411,2
    --162162995(+) GTACCA/GAAGTA 1 -- us2k10--------
    rs1824878891,2
    --162163023(+) AAACCA/GCAATT 1 -- us2k10--------
    rs1512706111,2
    --162163250(+) TACTTC/TAGTAT 1 -- us2k10--------
    rs1836768941,2
    --162163398(+) CCAGTA/GAGGTG 1 -- us2k10--------
    rs1393735161,2
    --162163633(+) GCCCAC/GATGGC 1 -- us2k10--------
    rs1883393501,2
    --162163663(+) CGTGAC/TAAAGC 1 -- us2k10--------
    rs1455526981,2
    --162163679(+) CCTAAC/TTCAAA 1 -- us2k10--------
    rs739711821,2
    C,F--162163807(+) TGTTAT/CGGAGA 1 -- us2k12Minor allele frequency- C:0.12WA 120

    HapMap Linkage Disequilibrium report for PSMD14 (162164549 - 162268228 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PSMD14:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv459934CNV Loss19166990
    nsv818094CNV Loss17921354
    nsv437568CNV Loss16327808

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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
    OMIM gene information: 607173    OMIM disorders: --

    3 diseases for PSMD14:    About MalaCards
    hereditary renal cell carcinoma    nephrotic syndrome    renal cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for PSMD14:
    Hereditary renal cell carcinoma

    PSMD14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PSMD14

    Export disorders for PSMD14 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 PSMD14 gene, integrated from 9 sources (see all 62):
    (articles sorted by number of sources associating them with PSMD14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Resistance to diverse drugs and ultraviolet light conferred by overexpression of a novel human 26 S proteasome subunit. (PubMed id 9374539)1, 2, 3, 9 Spataro V....Norbury C. (1997)
    2. The proteasomal de-ubiquitinating enzyme POH1 promotes the double- strand DNA break response. (PubMed id 22909820)1, 2 Butler L.R.... Morris J.R. (2012)
    3. Thioredoxin Txnl1/TRP32 Is a Redox-active Cofactor of the 26 S Proteasome. (PubMed id 19349277)1, 2 Andersen K.M....Hartmann-Petersen R. (2009)
    4. K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC- associated Brcc36 and proteasomal Poh1. (PubMed id 19214193)1, 2 Cooper E.M....Cohen R.E. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. The 19 S proteasomal subunit POH1 contributes to the regulation of c-Jun ubiquitination, stability, and subcellular localization. (PubMed id 16569633)1, 9 Nabhan J.F. and Ribeiro P. (2006)
    8. Relationship between expression of Pad1 homologue and multidrug resistance of idiopathic nephrotic syndrome. (PubMed id 19419512)1, 9 Ma Z....Li C. (2009)
    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
     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)
    About This Section
    Entrez Gene: 10213 HGNC: 16889 AceView: PSMD14 Ensembl:ENSG00000115233 euGenes: HUgn10213
    ECgene: PSMD14 Kegg: 10213 H-InvDB: PSMD14

    (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 PSMD14 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 PSMD14 gene:
    Search GeneIP for patents involving PSMD14

    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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