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PSMB8 Gene

protein-coding   GIFtS: 70
GCID: GC06M032808

Proteasome (Prosome, Macropain) Subunit, Beta Type, 8

(Previous names: proteasome (prosome, macropain) subunit, beta type, 8 (large...)
(Previous symbol: LMP7)
  See PSMB8-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) Subunit, Beta Type, 81 2     Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large
Multifunctional Protease 7)1
LMP71 2 3 5     D6S2162
RING102 3 5     D6S216E2
Large Multifunctional Peptidase 71 2     Low Molecular Weight Protein 72
Low Molecular Mass Protein 72 3     Protease Component C132
Macropain Subunit C132 3     Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large
Multifunctional Peptidase 7)2
Multicatalytic Endopeptidase Complex Subunit C132 3     Proteasome Catalytic Subunit 3i2
Proteasome Component C132 3     Proteasome Subunit Beta 5i2
Really Interesting New Gene 10 Protein2 3     Proteasome Subunit Beta Type-82
PSMB5i2 3     Proteasome Subunit Y22
EC 3.4.25.13 8     Proteasome-Related Gene 72
ALDD2 5     Y23
JMP2 5     Proteasome Subunit Beta-5i3
NKJO2 5     

External Ids:    HGNC: 95451   Entrez Gene: 56962   Ensembl: ENSG000002042647   OMIM: 1770465   UniProtKB: P280623   

Export aliases for PSMB8 gene to outside databases

Previous GC identifers: GC06M032805 GC06M032579 GC06M032855 GC06M032916


(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 PSMB8 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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit.
This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this
gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5
subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two
alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same
mature subunit. (provided by RefSeq, Jul 2008)

GeneCards Summary for PSMB8 Gene:
PSMB8 (proteasome (prosome, macropain) subunit, beta type, 8) is a protein-coding gene. Diseases associated with PSMB8 include jmp syndrome, and nakajo syndrome. GO annotations related to this gene include threonine-type endopeptidase activity. An important paralog of this gene is PSMB5.

UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062
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. This subunit is involved in antigen processing to generate
class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave
model peptides after hydrophobic and basic residues. Acts as a major component of interferon gamma-induced
sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved
in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results
in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes

Gene Wiki entry for PSMB8 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:
NT_167245.2  NC_000006.11  NC_018917.2  NT_007592.16  NT_113891.3  NT_167244.2  NT_167246.2  NT_167247.2  
NT_167248.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSMB8 gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PSMB8 promoter sequence
   Search Chromatin IP Primers for PSMB8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSMB8


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

PSMB8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMB8 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032808:  view genomic region     (about GC identifiers)

Start:
32,808,494 bp from pter      End:
32,812,712 bp from pter
Size:
4,219 bases      Orientation:
minus strand

Selected alternative locations (see all 7):
Chr6-,NT_167247 4,145,371-4,149,579      Chr6-,NT_113891.2 4,253,022-4,257,240      Chr6-,NT_167245 4,089,872-4,094,090     
Chr6-,NT_167244 4,095,498-4,099,716      Chr6-,NT_167249 4,239,267-4,243,485      Chr6-,NT_167246 4,265,690-4,269,908     

(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: PSB8_HUMAN, P28062 (See protein sequence)
Recommended Name: Proteasome subunit beta type-8 precursor  
Size: 276 amino acids; 30354 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. This subunit is part
of the immunoproteasome where it displaces the equivalent housekeeping subunit PSMB5. Component of the
spermatoproteasome, a form of the proteasome specifically found in testis. Directly interacts with POMP.
Interacts with HIV-1 TAT protein. Interacts with TAP1
Developmental stage: Highly expressed in immature dendritic cells (at protein level)
Secondary accessions: B0UZC0 Q29824 Q5JNW6 Q5QNR8 Q96J48
Alternative splicing: 2 isoforms:  P28062-1   P28062-2   (Contains a phosphothreonine at position 5)

Explore the universe of human proteins at neXtProt for PSMB8: NX_P28062

Explore proteomics data for PSMB8 at MOPED

Post-translational modifications: 

  • Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile
    proteolytic activity (By similarity)1
  • Ubiquitination2 at Lys153, Lys179, Lys252
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for PSMB8 (P28062)
     KVIEINP  HGTTTLAF  ISVSAASK  GPGLYYVD 


    See PSMB8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004150.1  NP_683720.2  

    ENSEMBL proteins: 
     ENSP00000378748   ENSP00000364016   ENSP00000364015  
    Reactome Protein details: P28062

    PSMB8 Human Recombinant Protein Products:

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    Novus Biologicals PSMB8 Proteins
    Novus Biologicals PSMB8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PSMB8
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PSMB8 

    PSMB8 Antibody Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PSMB8 


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

    4 InterPro protein domains:
     IPR001353 Proteasome_sua/b
     IPR016050 Proteasome_bsu_CS
     IPR000243 Pept_T1A_subB
     IPR023333 Proteasome_suB-type

    Graphical View of Domain Structure for InterPro Entry P28062

    ProtoNet protein and cluster: P28062

    1 Blocks protein domain: IPB000243 Proteasome B-type subunit

    UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062
    Similarity: Belongs to the peptidase T1B family


    Find genes that share domains with PSMB8           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: PSB8_HUMAN, P28062
    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. This subunit is involved in antigen processing to generate
    class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave
    model peptides after hydrophobic and basic residues. Acts as a major component of interferon gamma-induced
    sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved
    in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results
    in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes
    Catalytic activity: Cleavage of peptide bonds with very broad specificity
    Induction: Up-regulated by IFNG/IFN-gamma and IRF1 (at protein level). Up-regulated by TNF (at protein level).
    Up-regulated by tetrodotoxin (TTX) in glial cells. Up-regulated in Crohn's bowel disease (CD). Down-regulated by
    the selective inhibitor PR-957. Down-regulated in mature dendritic cells by HSV-1 infection. Up-regulated by heat
    shock treatment

         Genatlas biochemistry entry for PSMB8:
    multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component 7,beta-type subunit,stimulated by
    interferon gamma,involved in the degradation of cytoplasmic antigens for MHC class I antigen presentation
    pathways

         Enzyme Number (IUBMB): EC 3.4.25.11 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004298threonine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI15303969
         
    Find genes that share ontologies with PSMB8           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PSMB8:
     Decreased Salmonella enterica   Increased cell death HMECs cel 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Psmb8):
     hematopoietic system  immune system  tumorigenesis 

    Find genes that share phenotypes with PSMB8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Psmb8tm1Hjf for PSMB8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PSMB8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PSMB8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PSMB8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PSMB8

    miRNA
    Products:
        
    miRTarBase miRNAs that target PSMB8:
    hsa-mir-26b-5p (MIRT029309)

    Block miRNA regulation of human, mouse, rat PSMB8 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate PSMB8:
    hsa-miR-125a-5p hsa-miR-125b hsa-miR-451 hsa-miR-1912 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidPSMB8 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PSMB8

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PSMB8 (NM_004159)
    Sino Biological Human cDNA Clone for PSMB8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PSMB8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSMB8

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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
    PSB8_HUMAN, P28062: Cytoplasm (By similarity). Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex TAS8666937
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0005839proteasome core complex ISS--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with PSMB8           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 PSMB8 About   (see all 23)  
    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 PSMB8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PSMB8 (see all 12)
        CDK5 Pathway
    SOCS Pathway
    SMAD Signaling Network
    Estrogen-mediated S-Phase Entry
    G2-M Phase Transition

    1 GeneGo (Thomson Reuters) Pathway for PSMB8
        Immune response Antigen presentation by MHC class I

    1 BioSystems Pathway for PSMB8
        Proteasome Degradation


    Selected Reactome Pathways for PSMB8 (see all 25)
        SCF(Skp2)-mediated degradation of p27/p21
    Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
    SCF-beta-TrCP mediated degradation of Emi1
    Interferon alpha/beta signaling
    Ubiquitin-dependent degradation of Cyclin D1


    1 Kegg Pathway  (Kegg details for PSMB8):
        Proteasome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PSMB8
    Interactions:

        GeneGlobe Interaction Network for PSMB8

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

    Selected Interacting proteins for PSMB8 (P280621, 3 ENSP000003640164) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206235Q035193I2D: score=3 
    ENSG00000206299Q035193I2D: score=3 
    ENSG00000223481Q035193I2D: score=3 
    ENSG00000225967Q035193I2D: score=3 
    ENSG00000228582Q035193I2D: score=3 
    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: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 PSMB8           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
    Selected ApexBio Compounds for PSMB8 (see all 16)     About this table
    CompoundAction CAS #
    Aclacinomycin ASpecific inhibitor of the 20S proteasome chymotrypsin-like activity[57576-44-0]
    AM 114Boronic-chalcone derived proteasome inhibitor with anticancer activity[856849-35-9]
    Bortezomib (PS-341, LDP-3411)Cell-permeable proteasome inhibitor[179324-69-7]
    Carfilzomib (PR-171)Proteasome inhibitor, analog of epoxomicin[868540-17-4]
    CEP-18770Orally active inhibitor of the chymotrypsin-like activity of proteasome[847499-27-8]
    DihydroeponemycinProteasome inhibitor and antitumor reagent[126463-64-7]
    EpoxomicinIrreversible proteasome inhibitor[134381-21-8]
    GliotoxinNon-competitively inhibits chymotrypsin-like activity of 20S proteasome[67-99-2]
    MG-115Reversible proteasome inhibitor--
    MG-132Cell permeable, reversible proteasome inhibitor[133407-82-6]

    Browse Tocris compounds for PSMB8 (PSB8)

    1 Novoseek inferred chemical compound relationship for PSMB8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 0 5 7521687 (3), 15501285 (1)



    Find genes that share compounds with PSMB8           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 PSMB8 gene (2 alternative transcripts): 
    NM_004159.4  NM_148919.3  

    Unigene Cluster for PSMB8:

    Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)
    Hs.180062  [show with all ESTs]
    Unigene Representative Sequence: NM_004159
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490613 ENST00000395339 ENST00000374882(uc003oce.3 uc011dqh.2)
    ENST00000374881(uc003ocf.3) ENST00000484003
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPSMB8 3' UTR sequence
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    Additional mRNA sequence: 

    BC001114.2 CR541661.1 U17496.1 U17497.1 X62598.1 

    17 DOTS entries:

    DT.75168817  DT.100814840  DT.92471432  DT.100814835  DT.100889868  DT.100037665  DT.121353399  DT.95185222 
    DT.121353481  DT.95161041  DT.95185220  DT.95352469  DT.100037667  DT.121353467  DT.95185219  DT.97862526 
    DT.99951788 

    Selected AceView cDNA sequences (see all 479):

    W73244 BQ668382 AI708880 BM845490 BQ689364 BI909947 BU168044 AI334968 
    BM761521 AA312309 BM781493 BI254833 AW452170 BM781454 AI424288 BU191549 
    BM903570 AI278959 CR621302 BM781460 BM916919 BM760476 BQ064245 NM_148919 

    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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    PSMB8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGAAGATG
    PSMB8 Expression
    About this image


    PSMB8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    PSMB8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSMB8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.180062
        Custom PCR Arrays for PSMB8
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    OriGene qPCR primer pairs and template standards for PSMB8
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMB8

    (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 animals and fungi.

    Orthologs for PSMB8 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psmb81 , 5 proteasome (prosome, macropain) subunit, beta type more1, 5 84.06(n)1
    89.05(a)1
      17 (17.98 cM)5
    169131  NM_010724.21  NP_034854.21 
     341977215 
    lizard
    (Anolis carolinensis)
    Reptilia PSMB86
    proteasome (prosome, macropain) subunit, beta type...
    71(a)
    1 ↔ 1
    GL344036.1(27859-39727)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.1622 Xenopus laevis mRNA for low molecular mass protein-7 more 79.47(n)    BC060388.1 
    zebrafish
    (Danio rerio)
    Actinopterygii psmb82 proteasome (prosome, macropain) subunit, beta type, more 77.24(n)   30666  AF032390.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pros&bgr;53 proteasome endopeptidase 52(a)
    (best of 2)
      47C1   --
    worm
    (Caenorhabditis elegans)
    Secernentea pbs-56
    Protein PBS-5 (pbs-5) mRNA, complete cds
    38(a)
    1 → many
    I(14718992-14720477) WBGene00003951
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRE21 PRE2 54.73(n)
    54.73(a)
      856218   NP_015428.1 


    ENSEMBL Gene Tree for PSMB8 (if available)
    TreeFam Gene Tree for PSMB8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSMB8 gene
    PSMB52  PSMB112  
    3 SIMAP similar genes for PSMB8 using alignment to 3 protein entries:     PSB8_HUMAN (see all proteins):
    PSMB5    PSMB11    PSMB6

    Find genes that share paralogs with PSMB8           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 PSMB8 (see all 111)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664494
    Nakajo syndrome (NKJO)4--see VAR_0664492 G V mis40--------
    VAR_0652914
    Nakajo syndrome (NKJO)4--see VAR_0652912 T M mis40--------
    rs1886328801,2
    C--32724209(+) ATTCAA/GTATCC 2 -- ds50010--------
    rs1932739801,2
    --32724250(+) GGTATA/GGTGTT 2 -- ds50010--------
    rs1167384501,2
    C,F--32724281(+) GTGAAG/ATGGAA 2 -- ds50011Minor allele frequency- A:0.02WA 118
    rs37633491,2
    C,F,A,H--32724368(-) GTGTGT/CTCCAT 2 -- ds500126Minor allele frequency- C:0.49EA NS WA NA CSA 4232
    rs455062011,2
    C,F--32724435(+) CAAGTG/ATCCAT 2 -- ds50011Minor allele frequency- A:0.07NA 120
    rs1120801821,2
    C--32724595(+) ACAACC/AACAGG 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1154339031,2
    C,F--32724732(+) TTCACC/TGGCCT 2 -- ut311Minor allele frequency- T:0.01NA 120
    rs2009122541,2
    --32724825(+) TGAGTC/TGGCCA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for PSMB8 (32808494 - 32812712 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PSMB8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830633CNV Loss17160897

    Human Gene Mutation Database (HGMD): PSMB8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSMB8
    DNA2.0 Custom Variant and Variant Library Synthesis for PSMB8

    (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: 177046   
    OMIM disorders: 256040  
    UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062
  • Nakajo syndrome (NKJO) [MIM:256040]: An autosomal recessive autoinflammatory disorder characterized by
    early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and
    erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune
    dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic
    anemia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Mutation Met-75 has been found in chronic atypical neutrophilic dermatosis with lipodystrophy and
    elevated temperature syndrome (CANDLE syndrome). CANDLE patients have some overlapping features with NKJO
    patients, including a cutaneous eruption and lipodystrophy. They show a characteristic neutrophilic dermatosis
    with a mononuclear interstitial infiltrate in the dermis that seems pathognomonic for CANDLE syndrome
    (PubMed:21953331)

  • 7 diseases for PSMB8:    
    About MalaCards
    jmp syndrome    nakajo syndrome    cardiac sarcoidosis    autoinflammation, lipodystrophy, and dermatosis syndrome
    chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature    brucellosis    wagr syndrome

    3 diseases from the University of Copenhagen DISEASES database for PSMB8:
    JMP syndrome     Panniculitis     Lipodystrophy

    Find genes that share disorders with PSMB8           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PSMB8 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 30.7 1 11059775 (1)
    tumors 28.9 14 12694570 (2), 10874472 (1), 9815722 (1), 19492245 (1) (see all 11)
    colorectal tumors 26.7 2 15104675 (2)
    lung carcinoma 24.9 1 8803612 (1)
    hashimotos thyroiditis 24.8 1 9599304 (1)
    diabetes mellitus insulin-dependent 22.4 3 9599304 (1), 7847389 (1), 11793848 (1)
    graves disease 12.4 1 9599304 (1)
    carcinoma squamous cell 9.86 1 11162627 (1)
    cancer 5.62 2 16855371 (1), 15814633 (1)
    primary tumor 4.01 2 19243813 (1), 15897905 (1)

    Genetic Association Database (GAD): PSMB8
    Human Genome Epidemiology (HuGE) Navigator: PSMB8 (36 documents)

    Export disorders for PSMB8 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 PSMB8 gene, integrated from 10 sources (see all 228):
    (articles sorted by number of sources associating them with PSMB8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PSMB8 (LMP7) but not PSMB9 (LMP2) gene polymorphisms are associated to pigeon breeder's hypersensitivity pneumonitis. (PubMed id 20153157)1, 4, 9 Camarena A....Selman M. (Respir Med 2010)
    2. Relationship of large multifunctional proteasome 7 gene polymorphism with susceptibility to type 1 diabetes mellitus and DR3 gene. (PubMed id 11793848)1, 4, 9 Ding H....Yang G. (Chin. Med. J. 2001)
    3. Herpes simplex virus type I infection of mature dendritic cells leads to reduced LMP7-mRNA-expression levels. (PubMed id 19619915)1, 2, 9 Eisemann J....Kummer M. (Immunobiology 2009)
    4. [The frequency of allelic polymorphism of genes encoding immunoproteasome catalytic subunits in acute coronary syndrome patients]. (PubMed id 16396320)1, 4, 9 Dosenko V.E....MoA-benko A.A. (Tsitol. Genet. 2005)
    5. IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response. (PubMed id 15944226)1, 2, 9 Heink S.... Krueger E. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    6. Pharmacogenomics of responsiveness to interferon IFN-beta treatment in multiple sclerosis: a genetic screen of 100 type I interferon-inducible genes. (PubMed id 16338279)1, 4, 9 Cunningham S....Vandenbroeck K. (Clin. Pharmacol. Ther. 2005)
    7. Age dependent impact of LMP polymorphisms on TNFalpha-induced apoptosis in human peripheral blood mononuclear cells. (PubMed id 11772516)1, 4, 9 Mishto M....Franceschi C. (Exp. Gerontol. 2002)
    8. [Involvement of TAP2 and LMP7 gene polymorphisms in HCV infection]. (PubMed id 11494532)1, 4, 9 Kuzushita N....Hayashi N. (Nippon Rinsho 2001)
    9. Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. (PubMed id 19202550)1, 4, 9 Mehta A.M....Jan Fleuren G. (amp 2009)
    10. [Allele polymorphism of genes coding proteasome subunits is associated with an enhanced risk for arterial hypertension in adolescents]. (PubMed id 19526842)1, 4, 9 Goncharov S.V....MoA-benko A.A. (Fiziol Zh 2009)

    (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: 5696 HGNC: 9545 AceView: PSMB8 Ensembl:ENSG00000204264 euGenes: HUgn5696
    ECgene: PSMB8 Kegg: 5696 H-InvDB: PSMB8

    (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 PSMB8 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 PSMB8 gene:
    Search GeneIP for patents involving PSMB8

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



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