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PSMC4 Gene

protein-coding   GIFtS: 66
GCID: GC19P040477

Proteasome (Prosome, Macropain) 26S Subunit, ATPase, 4


(Previous symbol: MIP224)
  See PSMC4-related diseases
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, ATPase, 41 2     MB67-Interacting Protein2 3
MIP2241 2 3     S62 5
Tat-Binding Protein 71 2 3     MB67 Interacting Protein1
TBP72 3 5     26S Protease Regulatory Subunit 6B2
Protease 26S Subunit 61 2     RPT32
26S Proteasome AAA-ATPase Subunit RPT32 3     Proteasome 26S Subunit ATPase 43
TBP-72 3     

External Ids:    HGNC: 95511   Entrez Gene: 57042   Ensembl: ENSG000000132757   OMIM: 6027075   UniProtKB: P436863   

Export aliases for PSMC4 gene to outside databases

Previous GC identifers: GC19P041104 GC19P040868 GC19P045153 GC19P045168 GC19P036913


(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 PSMC4 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. This gene encodes a member of the triple-A family
of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The
encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease
through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have
been observed for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for PSMC4 Gene:
PSMC4 (proteasome (prosome, macropain) 26S subunit, ATPase, 4) is a protein-coding gene. Diseases associated with PSMC4 include episodic ataxia type 2, and indolent systemic mastocytosis. GO annotations related to this gene include ATPase activity.

UniProtKB/Swiss-Prot: PRS6B_HUMAN, P43686
Function: The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory
(or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex

Gene Wiki entry for PSMC4 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_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSMC4 gene promoter:
         NF-1   Elk-1   GATA-3   p53   STAT5A   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSMC4 promoter sequence
   Search Chromatin IP Primers for PSMC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSMC4


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

Entrez Gene cytogenetic band: 19q13.11-q13.13   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.11-q13.13

PSMC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMC4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P040477:  view genomic region     (about GC identifiers)

Start:
40,476,912 bp from pter      End:
40,487,353 bp from pter
Size:
10,442 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PRS6B_HUMAN, P43686 (See protein sequence)
Recommended Name: 26S protease regulatory subunit 6B  
Size: 418 amino acids; 47366 Da
Subunit: Interacts with NR1I3. Interacts with PAAF1. Interacts with TRIM5
1 PDB 3D structure from and Proteopedia for PSMC4:
2DVW (3D)    
Secondary accessions: Q96FV5 Q9UBM3 Q9UEX3
Alternative splicing: 2 isoforms:  P43686-1   P43686-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PSMC4: NX_P43686

Explore proteomics data for PSMC4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys70, Lys125, Lys192, Lys217, Lys238, Lys255, Lys273
  • Modification sites at PhosphoSitePlus

  • See PSMC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_006494.1  NP_694546.1  

    ENSEMBL proteins: 
     ENSP00000157812   ENSP00000413869  
    Reactome Protein details: P43686

    PSMC4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PSMC4

     
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    Search eBioscience for ELISAs for PSMC4 


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

    5 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR005937 26S_Psome_P45
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P43686

    ProtoNet protein and cluster: P43686

    1 Blocks protein domain: IPB003960 AAA-protein subdomain

    UniProtKB/Swiss-Prot: PRS6B_HUMAN, P43686
    Similarity: Belongs to the AAA ATPase family


    Find genes that share domains with PSMC4           About GenesLikeMe


    (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,
    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: PRS6B_HUMAN, P43686
    Function: The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory
    (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex

         Genatlas biochemistry entry for PSMC4:
    multicatalytic proteinase complex (prosome,macropain,26S) 19/22S regulator of proteasome S6,ATPase subunit
    4,51.6kDa

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI12525503
    GO:0005524ATP binding IEA--
    GO:0009378four-way junction helicase activity ----
    GO:0016787hydrolase activity ----
         
    Find genes that share ontologies with PSMC4           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PSMC4:
     G0/1 arrest  Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Psmc4):
     behavior/neurological  embryogenesis  growth/size/body  hematopoietic system  immune system 
     mortality/aging  nervous system  reproductive system  skeleton 

    Find genes that share phenotypes with PSMC4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PSMC4: Psmc4tm1Aki Psmc4tm1.2Ryot

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PSMC4
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PSMC4

    miRNA
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    miRTarBase miRNAs that target PSMC4:
    hsa-mir-15a-5p (MIRT051335), hsa-mir-222-3p (MIRT046684), hsa-mir-877-3p (MIRT036915), hsa-mir-331-3p (MIRT043323), hsa-mir-26b-5p (MIRT029325)

    Block miRNA regulation of human, mouse, rat PSMC4 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PSMC4:
    hsa-miR-4298 hsa-miR-3122 hsa-miR-1302 hsa-miR-3913-5p
    SwitchGear 3'UTR luciferase reporter plasmidPSMC4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): PSMC4 (NM_153001)
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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 UniProtKB/Swiss-Prot
    PRS6B_HUMAN, P43686: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion4
    peroxisome2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex TAS8603043
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with PSMC4           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 PSMC4 About   (see all 29)  
    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 PSMC4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PSMC4 (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 PSMC4
        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

    2 BioSystems Pathways for PSMC4
        Parkin-Ubiquitin Proteasomal System pathway
    Proteasome Degradation


    Selected Reactome Pathways for PSMC4 (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 PSMC4):
        Proteasome
    Epstein-Barr virus infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PSMC4
    Interactions:

        GeneGlobe Interaction Network for PSMC4

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

    Selected Interacting proteins for PSMC4 (P436861, 2, 3 ENSP000001578124) via UniProtKB, MINT, STRING, and/or I2D (see all 1108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (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:0001824blastocyst development IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--

    Find genes that share ontologies with PSMC4           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 PSMC4 (PRS6B)

    Selected Novoseek inferred chemical compound relationships for PSMC4 gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rapamycin 84.6 45 17121914 (2), 20501622 (2), 11160419 (2), 9271419 (2) (see all 34)
    potassium 48.2 13 12524283 (2), 9689030 (2), 15883204 (1), 12839862 (1) (see all 10)
    ly294002 45.9 3 18958173 (1), 19478560 (1), 15064379 (1)
    threonine 45.6 1 14678837 (1)
    wortmannin 42.8 2 18958173 (1), 15010863 (1)
    oligoribonucleotide 42.4 1 8318536 (1)
    phosphatidylinositol 41.2 2 14996711 (1), 15044364 (1)
    tetraethylammonium 39.3 8 7696472 (3), 9154902 (1), 2019588 (1), 19332619 (1) (see all 5)
    serine 37.2 7 11179022 (1), 1577739 (1), 15877619 (1), 2260978 (1) (see all 7)
    sodium 35.8 5 9660885 (1), 10613920 (1), 19464195 (1), 9689030 (1) (see all 5)



    Find genes that share compounds with PSMC4           About GenesLikeMe



    (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 PSMC4 gene (2 alternative transcripts): 
    NM_006503.3  NM_153001.2  

    Unigene Cluster for PSMC4:

    Proteasome (prosome, macropain) 26S subunit, ATPase, 4
    Hs.211594  [show with all ESTs]
    Unigene Representative Sequence: NM_006503
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000157812(uc002omq.3) ENST00000593455 ENST00000455878(uc002omr.3)
    ENST00000601697 ENST00000596386 ENST00000601194
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PSMC4
      QuantiFast Probe-based Assays in human, mouse, rat PSMC4

    Additional mRNA sequence: 

    AF020736.1 AF038965.1 AK290285.1 AK313183.1 BC000343.2 BC010396.1 BC014488.1 BC018811.2 
    BT007232.1 U27515.1 

    15 DOTS entries:

    DT.449212  DT.100827805  DT.121437047  DT.100827801  DT.100827787  DT.100827791  DT.100827792  DT.91767676 
    DT.100827778  DT.100827780  DT.121437015  DT.91767660  DT.95080993  DT.95098037  DT.95098088 

    Selected AceView cDNA sequences (see all 801):

    BU540824 BE272247 BI753005 CR624768 CR611800 BM994303 AI684602 BE397232 
    BQ061452 BE906335 AU104993 F28652 CA436734 BE910062 BQ684414 BQ689805 
    BI754176 BQ896673 BG770336 NM_153001 BQ899226 W74792 BU157336 AL545299 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PSMC4 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for PSMC4

    (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)
    About This Section

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    PSMC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTTTACAA
    PSMC4 Expression
    About this image

    PSMC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSMC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.211594
        Custom PCR Arrays for PSMC4
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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 PSMC4 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psmc41 , 5 proteasome (prosome, macropain) 26S subunit, ATPase, more1, 5 91.47(n)1
    99.76(a)1
      7 (16.11 cM)5
    239961  NM_011874.21  NP_036004.21 
     280417075 
    lizard
    (Anolis carolinensis)
    Reptilia PSMC46
    proteasome (prosome, macropain) 26S subunit, ATPas...
    99(a)
    1 ↔ 1
    GL343514.1(186164-197024)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687842 proteasome 26S ATPase subunit 4 isoform 1 81.19(n)    BC060362.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe38b102 wufe38b10 82.81(n)   326884  BC055215.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rpt31 , 3 proteolysis and peptidolysis proteasome
    endopeptidase3
    Regulatory particle triple-A ATPase 31
    87(a)
    (best of 2)3
    76.78(n)1
    89.05(a)1
      10A63
    320471  NM_132458.21  NP_572686.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpt-31 rpt-3 68.42(n)
    82.89(a)
      175925  NM_066028.3  NP_498429.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPT3(YDR394W)4
    RPT31
    One of six ATPases of the 19S regulatory particle of more4
    RPT31
    60.03(n)1
    69.9(a)1
      4(1261681-1262967)4
    8520031, 4  NP_010682.31  NP_010682.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RPT31 RPT3 68.69(n)
    80.3(a)
      835941  NM_125214.5  NP_200637.1 
    rice
    (Oryza sativa)
    Liliopsida Os.114462 Oryza sativa (japonica cultivar-group) OsRPT3 mRNA more 74.97(n)    AK071476.1 


    ENSEMBL Gene Tree for PSMC4 (if available)
    TreeFam Gene Tree for PSMC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSMC4 gene
    13 SIMAP similar genes for PSMC4 using alignment to 2 protein entries:     PRS6B_HUMAN (see all proteins):
    PSMC1    PSMC2    PSMC3    PSMC6    VCP    PSMC5
    AFG3L2    PEX6    DKFZp434K0126    NVL    SPG7    SPATA5
    SPATA5L1

    Find genes that share paralogs with PSMC4           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)
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    Selected SNPs for PSMC4 (see all 365)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1142594501,2
    C,F--40474913(+) TGCGCG/AGGCTA 2 -- us2k12Minor allele frequency- A:0.05WA NA 238
    rs1398762781,2
    --40475070(+) CATCTG/TGGGAG 2 -- us2k10--------
    rs1879454341,2
    --40475079(+) AGCTCC/TAAGAA 2 -- us2k10--------
    rs1920853351,2
    --40475118(+) AACACC/TCCTAA 2 -- us2k10--------
    rs1146063621,2
    C,F--40475208(+) CTACAC/TACGGT 2 -- us2k11Minor allele frequency- T:0.04WA 118
    rs2343651,2
    C,F,A,H--40475211(+) cacacG/Agtatg 2 -- us2k116Minor allele frequency- A:0.29NS EA NA WA CSA 818
    rs2343661,2
    C,F--40475499(+) gcacaC/Agcctg 2 -- us2k14Minor allele frequency- A:0.14WA CSA NA 241
    rs1498354451,2
    --40475501(+) ACACGC/TCTGTA 2 -- us2k10--------
    rs1474720391,2
    --40475520(+) TGCTTC/GGGAAG 2 -- us2k10--------
    rs2000890121,2
    --40475522(+) TTGGG-/AAAGCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PSMC4 (40476912 - 40487353 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PSMC4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv9726CNV Gain18304495
    dgv1082e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSMC4
    DNA2.0 Custom Variant and Variant Library Synthesis for PSMC4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602707    OMIM disorders: --

    7 diseases for PSMC4:    
    About MalaCards
    episodic ataxia type 2    indolent systemic mastocytosis    timothy syndrome    erythromelalgia
    aortic disease    myotonia    hemimegalencephaly

    1 disease from the University of Copenhagen DISEASES database for PSMC4:
    Indolent systemic mastocytosis

    Find genes that share disorders with PSMC4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PSMC4 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 27.7 13 17041093 (2), 20501622 (2), 8854812 (1), 15175323 (1) (see all 11)
    severe mental retardation 20.7 1 14678837 (1)
    cancer 13.4 1 8395335 (1)
    rhabdomyosarcoma 12 2 15735038 (1), 17585318 (1)
    epilepsy 6.19 1 11038262 (1)
    glioma 3.16 4 19661320 (2), 18759130 (1), 19671762 (1)
    dysplasia 2.28 2 17437409 (1), 15921235 (1)
    herpes simplex 0 1 2160050 (1)
    virus infection 0 1 2160050 (1)
    shock 0 3 1880153 (1), 1730670 (1), 9528776 (1)


    Export disorders for PSMC4 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 PSMC4 gene, integrated from 10 sources (see all 346):
    (articles sorted by number of sources associating them with PSMC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A component of the 26S proteasome binds on orphan member of the nuclear hormone receptor superfamily. (PubMed id 8603043)1, 2, 3, 9 Choi H.S.... Moore D.D. (J. Steroid Biochem. Mol. Biol. 1996)
    2. Tat-binding protein 7 is a subunit of the 26S protease. (PubMed id 8060531)1, 2, 9 Dubiel W.... Rechsteiner M. (Biol. Chem. Hoppe-Seyler 1994)
    3. Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases. (PubMed id 9473509)1, 3, 9 Tanahashi N....Tanaka K. (Biochem. Biophys. Res. Commun. 1998)
    4. TRIM5alpha associates with proteasomal subunits in cells while in complex with HIV-1 virions. (PubMed id 22078707)1, 2 Lukic Z.... Campbell E.M. (Retrovirology 2011)
    5. Proteasomal ATPase-associated factor 1 negatively regulates proteasome activity by interacting with proteasomal ATPases. (PubMed id 15831487)1, 2 Park Y.... Yoon J.-B. (Mol. Cell. Biol. 2005)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    7. 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)
    8. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    9. The type 1 human immunodeficiency virus Tat binding protein is a transcriptional activator belonging to an additional family of evolutionarily conserved genes. (PubMed id 8419915)1, 2 Ohana B....Rosen C.A. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    10. E3 ubiquitin ligase RNF2 interacts with the S6' proteasomal ATPase subunit and increases the ATP hydrolysis activity of S6'. (PubMed id 15773819)1, 9 Lee S.J....Kang S. (Biochem. J. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 5704 HGNC: 9551 AceView: PSMC4 Ensembl:ENSG00000013275 euGenes: HUgn5704
    ECgene: PSMC4 Kegg: 5704 H-InvDB: PSMC4

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for PSMC4 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 PSMC4 gene:
    Search GeneIP for patents involving PSMC4

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



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