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PSMA6 Gene

protein-coding   GIFtS: 69
GCID: GC14P035747

Proteasome (Prosome, Macropain) Subunit, Alpha Type, 6

  See PSMA6-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) Subunit, Alpha Type, 61 2     EC 3.4.25.13 8
PROS272 3 5     IOTA2
Macropain Iota Chain2 3     Macropain Subunit Iota2
Multicatalytic Endopeptidase Complex Iota Chain2 3     Prosomal P27K Protein2
Proteasome Iota Chain2 3     Proteasome Subunit Alpha Type-62
27 KDa Prosomal Protein2 3     Proteasome Subunit Iota2
PROS-272 3     P27K5
p27K2 3     

External Ids:    HGNC: 95351   Entrez Gene: 56872   Ensembl: ENSG000001009027   OMIM: 6028555   UniProtKB: P609003   

Export aliases for PSMA6 gene to outside databases

Previous GC identifers: GC14P033139 GC14P029548 GC14P033751 GC14P034832 GC14P035761 GC14P015875


(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 PSMA6 Gene:
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The
core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants
encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y
chromosome. (provided by RefSeq, Aug 2013)

GeneCards Summary for PSMA6 Gene:
PSMA6 (proteasome (prosome, macropain) subunit, alpha type, 6) is a protein-coding gene. Diseases associated with PSMA6 include myocardial infarcation. GO annotations related to this gene include RNA binding and NF-kappaB binding.

UniProtKB/Swiss-Prot: PSA6_HUMAN, P60900
Function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave
peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The
proteasome has an ATP-dependent proteolytic activity

Gene Wiki entry for PSMA6 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_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSMA6 gene promoter:
         GR   ER-alpha   Elk-1   AML1a   AP-1   Bach2   GR-beta   ATF-2   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSMA6 promoter sequence
   Search Chromatin IP Primers for PSMA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSMA6


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

Entrez Gene cytogenetic band: 14q13   Ensembl cytogenetic band:  14q13.2   HGNC cytogenetic band: 14q13

PSMA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMA6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P035747:  view genomic region     (about GC identifiers)

Start:
35,747,839 bp from pter      End:
35,786,699 bp from pter
Size:
38,861 bases      Orientation:
plus strand

1 alternative location:
Chr14+ 35,591,755-35,786,680     

(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: PSA6_HUMAN, P60900 (See protein sequence)
Recommended Name: Proteasome subunit alpha type-6  
Size: 246 amino acids; 27399 Da
Subunit: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome
core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure.
The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven
beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Interacts with ALKBH4
Secondary accessions: B2R7J9 P34062 Q6IB60

Explore the universe of human proteins at neXtProt for PSMA6: NX_P60900

Explore proteomics data for PSMA6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys30, Lys45, Lys55, Lys59, Lys102, Lys104, Lys116, Lys164, Lys171, Lys181
  • Glycosylation2 at Ser5
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PSMA6 (P60900) (see all 9)
     EIEVGVV  ARYEAAN  IGCVMTG  FSPEGRL 


    See PSMA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001269161.1  NP_001269162.1  NP_001269163.1  NP_002782.1  

    ENSEMBL proteins: 
     ENSP00000444844   ENSP00000451958   ENSP00000261479   ENSP00000451432   ENSP00000451254  
     ENSP00000452603   ENSP00000450844   ENSP00000452566   ENSP00000450528   ENSP00000451171  
    Reactome Protein details: P60900

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    Search eBioscience for ELISAs for PSMA6 


    (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

    3 InterPro protein domains:
     IPR001353 Proteasome_sua/b
     IPR000426 Proteasome_asu_N
     IPR023332 Proteasome_suA-type

    Graphical View of Domain Structure for InterPro Entry P60900

    ProtoNet protein and cluster: P60900

    UniProtKB/Swiss-Prot: PSA6_HUMAN, P60900
    Similarity: Belongs to the peptidase T1A family


    Find genes that share domains with PSMA6           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: PSA6_HUMAN, P60900
    Function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave
    peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The
    proteasome has an ATP-dependent proteolytic activity
    Catalytic activity: Cleavage of peptide bonds with very broad specificity

         Genatlas biochemistry entry for PSMA6:
    multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component,alpha type 6,subunit Pros27
    (Iota),27.3 kDa

         Enzyme Number (IUBMB): EC 3.4.25.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding NAS7681138
    GO:0004175endopeptidase activity NAS7681138
    GO:0004298threonine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI14733938
    GO:0035639purine ribonucleoside triphosphate binding NAS7681138
         
    Find genes that share ontologies with PSMA6           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for PSMA6:
     Decreased viability of wild-ty  Decreased viability with pacli  G2 arrest  Increased G2M DNA content 
     Nuclear 60S biogenesis defects  Synthetic lethal with Ras 

    Animal Models:
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    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate PSMA6
    SwitchGear 3'UTR luciferase reporter plasmidPSMA6 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 UniProtKB/Swiss-Prot
    PSA6_HUMAN, P60900: Cytoplasm. Nucleus. Cytoplasm, P-body (By similarity). Note=Colocalizes with TRIM5 in the
    cytoplasmic bodies (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion4
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body ISS--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----

    Find genes that share ontologies with PSMA6           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 PSMA6 About   (see all 27)  
    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
    2Chks 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
    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 PSMA6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PSMA6 (see all 17)
        CDK5 Pathway
    Estrogen-mediated S-Phase Entry
    G2-M Phase Transition
    DNA Repair Mechanisms
    GSK3 Signaling

    1 Cell Signaling Technology (CST) Pathway for PSMA6
        Protein Stability

    4 GeneGo (Thomson Reuters) Pathways for PSMA6
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Immune response Antigen presentation by MHC class I
    Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR

    1 BioSystems Pathway for PSMA6
        Proteasome Degradation


    Selected Reactome Pathways for PSMA6 (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


    1 Kegg Pathway  (Kegg details for PSMA6):
        Proteasome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PSMA6
    Interactions:

        Search GeneGlobe Interaction Network for PSMA6

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

    Selected Interacting proteins for PSMA6 (P609001, 2, 3 ENSP000002614794) via UniProtKB, MINT, STRING, and/or I2D (see all 337)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMA7O148181, 2, 3, ENSP000003599104EBI-357793,EBI-603272 MINT-6176052 MINT-6176398 MINT-51338 MINT-6176409 MINT-6176676 MINT-4050722 MINT-51357 MINT-51352 MINT-51371 MINT-51337 MINT-6176080 I2D: score=10 STRING: ENSP00000359910
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    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 PSMA6           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 compounds at ApexBio 

    Browse Tocris compounds for PSMA6 (PSA6)

    2 DrugBank Compounds for PSMA6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE-- --target--10592235
    N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE-- --target--10592235



    (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 PSMA6 gene (4 alternative transcripts): 
    NM_001282232.1  NM_001282233.1  NM_001282234.1  NM_002791.2  

    Unigene Cluster for PSMA6:

    Proteasome (prosome, macropain) subunit, alpha type, 6
    Hs.446260  [show with all ESTs]
    Unigene Representative Sequence: AB209589
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540871 ENST00000554541 ENST00000261479(uc001wtd.3 uc010tpt.2)
    ENST00000554843 ENST00000554620 ENST00000554961 ENST00000556167 ENST00000553809
    ENST00000553688 ENST00000555764(uc010tpu.2) ENST00000556506 ENST00000555050
    ENST00000556221 ENST00000554457
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    Additional mRNA sequence: 

    AB209589.1 AK298920.1 AK302008.1 AK313011.1 AK316223.1 BC002979.1 BC017882.1 BC022354.1 
    BC023659.1 BC070137.1 CR456944.1 X59417.1 X61972.1 

    Selected DOTS entries (see all 29):

    DT.91884330  DT.454299  DT.99926754  DT.100860419  DT.95326270  DT.95351786  DT.120788769  DT.120788802 
    DT.319874  DT.100789559  DT.95326387  DT.95326259  DT.95326393  DT.100860421  DT.100860427  DT.120788918 
    DT.120653264  DT.120788745  DT.120788776  DT.120788810  DT.92006941  DT.95326257  DT.95326389  DT.95326396 

    Selected AceView cDNA sequences (see all 971):

    CK725143 BU741645 BM772771 CB321694 AI419327 BX161487 AI184640 W77914 
    BF196794 CB110202 CB127756 BU166091 BQ638242 BM971370 AA329485 AI337867 
    BQ010199 AA707205 NM_002791 AU102681 BQ010055 BU673997 BU687026 BG058716 

    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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    PSMA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGTCCCTG
    PSMA6 Expression
    About this image

    PSMA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSMA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446260
        Custom PCR Arrays for PSMA6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMA6

    (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 PSMA6 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psma61 , 5 proteasome (prosome, macropain) subunit, alpha type more1, 5 93.63(n)1
    99.59(a)1
      12 (23.94 cM)5
    264431  NM_011968.31  NP_036098.11 
     553842225 
    chicken
    (Gallus gallus)
    Aves PSMA61 proteasome (prosome, macropain) subunit, alpha type, more 86.99(n)
    96.75(a)
      423326  NM_001277443.1  NP_001264372.1 
    lizard
    (Anolis carolinensis)
    Reptilia PSMA66
    proteasome (prosome, macropain) subunit, alpha typ...
    92(a)
    1 ↔ 1
    2(54456746-54470009)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158782 Xenopus laevis transcribed sequence with strong similarity more 80.7(n)    CB558360.1 
    zebrafish
    (Danio rerio)
    Actinopterygii psma6a2 proteasome (prosome, macropain) subunit, alpha type, more 77.31(n)   171585  BC055520.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prosalpha63
    Prosalpha11
    proteasome endopeptidase3
    Proteasome alpha1 subunit1
    64(a)3
    60.38(n)1
    67.21(a)1
      43E183
    457801  NM_080098.31  NP_524837.21 
    worm
    (Caenorhabditis elegans)
    Secernentea pas-11 pas-1 56.37(n)
    56.5(a)
      179941  NM_074170.3  NP_506571.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCL1(YGL011C)4
    SCL11
    Alpha 1 subunit of the 20S proteasome involved in the more4
    SCL11
    58.09(n)1
    56.02(a)1
      7(475247-474489)4
    8528731, 4  NP_011504.31  NP_011504.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PAA11 PAA1 61.25(n)
    64.23(a)
      833524  NM_122950.3  NP_198409.1 
    rice
    (Oryza sativa)
    Liliopsida Os.37042 Oryza sativa (japonica cultivar-group) OsPAA1 mRNA more 73.15(n)    AK104324.1 


    ENSEMBL Gene Tree for PSMA6 (if available)
    TreeFam Gene Tree for PSMA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSMA6 gene
    8 SIMAP similar genes for PSMA6 using alignment to 11 protein entries:     PSA6_HUMAN (see all proteins):
    PSMA4    PSMA3    PSMA5    PSMA2    DKFZp686D09174    PSMA7
    PSMA1    PSMA8

    Find genes that share paralogs with PSMA6           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for PSMA6
    PGOHUM00000248668 PGOHUM00000239097 PGOHUM00000261945 PGOHUM00000261946 PGOHUM00000233960


    (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 PSMA6 (see all 603)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs101329381,2
    C,F,H--15873865(+) ATTACA/GGTATA 1 -- us2k18Minor allele frequency- G:0.03NS EA NA CSA WA 654
    rs1406781031,2
    C--15879739(+) CTGGG-/TGTT  
            
    TGTTT
    1 -- int10--------
    rs1151124491,2
    C,F--16757290(+) CTGAAC/TCAGAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs74931941,2
    H--16757469(+) ATTCCC/TTTATG 1 -- us2k1 tfbs34Minor allele frequency- T:0.00NS EA 418
    rs1127513221,2
    C,F--16757645(+) ACTATC/GCTAAC 1 -- us2k12Minor allele frequency- G:0.05NA WA 120
    rs171031691,2
    C,F--16757670(+) TTTGTA/GTTCAT 1 -- us2k15Minor allele frequency- G:0.08NA CSA WA 262
    rs174583121,2
    C,F,H--16757750(+) TCTCCC/TGGAGC 1 -- us2k1 trp311Minor allele frequency- T:0.08NA EA NS WA 792
    rs175368921,2
    C,F,H--16757758(+) AGCTAC/ACTCGC 1 -- us2k114Minor allele frequency- A:0.04NA NS EA 1624
    rs174583671,2
    C,F,H--16757769(+) CAGCTT/GGGAAT 1 -- us2k19Minor allele frequency- G:0.03NA NS EA 672
    rs1889795681,2
    --16757800(+) ACACTA/GGCTGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PSMA6 (35747839 - 35786699 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PSMA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661597CNV Deletion23128226
    nsv456205CNV Loss19166990

    Human Gene Mutation Database (HGMD): PSMA6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSMA6
    DNA2.0 Custom Variant and Variant Library Synthesis for PSMA6

    (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: 602855   
    OMIM disorders: 608446  
    1 disease for PSMA6:    
    About MalaCards
    myocardial infarcation


    Find genes that share disorders with PSMA6           About GenesLikeMe

    Genetic Association Database (GAD): PSMA6
    Human Genome Epidemiology (HuGE) Navigator: PSMA6 (21 documents)

    Export disorders for PSMA6 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 PSMA6 gene, integrated from 10 sources (see all 137):
    (articles sorted by number of sources associating them with PSMA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The primary structures of four subunits of the human, high-molecular- weight proteinase, macropain (proteasome), are distinct but homologous. (PubMed id 1888762)1, 2, 3 DeMartino G.N.... Slaughter C.A. (Biochim. Biophys. Acta 1991)
    2. The prosomal RNA-binding protein p27K is a member of the alpha-type human prosomal gene family. (PubMed id 7681138)1, 2, 9 Bey F.... Scherrer K. (Mol. Gen. Genet. 1993)
    3. The G-Allele of the PSMA6-8C&gt;G polymorphism is associated with poor outcome in multiple myeloma independently of circulating proteasome serum levels. (PubMed id 20408869)1, 4 Bachmann H.S....NA1ckel H. (Eur. J. Haematol. 2010)
    4. 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)
    5. Genome-wide association analysis identifies three psoriasis susceptibility loci. (PubMed id 20953189)1, 4 Stuart P.E....Elder J.T. (Nat. Genet. 2010)
    6. Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease. (PubMed id 19624571)1, 4 Alsmadi O....Dzimiri N. (Ann. Hum. Genet. 2009)
    7. The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarction in a Chinese population. (PubMed id 19272601)1, 4 Liu X....Liu L. (Atherosclerosis 2009)
    8. Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations. (PubMed id 19182073)1, 4 Freilinger T....Dichgans M. ( a journal of cerebral circulation 2009)
    9. Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome. (PubMed id 19056482)1, 4 Yoshida T....Yamada Y. (Genomics 2009)
    10. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PubMed id 19336475)1, 4 Drenos F....Hingorani A.D. (Hum. Mol. Genet. 2009)

    (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: 5687 HGNC: 9535 AceView: PSMA6andKIAA0391 Ensembl:ENSG00000100902 euGenes: HUgn5687
    ECgene: PSMA6 Kegg: 5687 H-InvDB: PSMA6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PSMA6 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 PSMA6 gene:
    Search GeneIP for patents involving PSMA6

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



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