Human Gene PSMB9 (uc011hfe.2) Description and Page Index
  Description: Homo sapiens proteasome (prosome, macropain) subunit, beta type, 9 (PSMB9), mRNA.
RefSeq Summary (NM_002800): 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 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BQ706947.1, BQ947748.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,279,134-4,284,825 Size: 5,692 Total Exon Count: 6 Strand: +
Coding Region
   Position: chr6_mann_hap4:4,279,203-4,284,506 Size: 5,304 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: PSB9_HUMAN
DESCRIPTION: RecName: Full=Proteasome subunit beta type-9; EC=3.4.25.1; AltName: Full=Low molecular mass protein 2; AltName: Full=Macropain chain 7; AltName: Full=Multicatalytic endopeptidase complex chain 7; AltName: Full=Proteasome chain 7; AltName: Full=Proteasome subunit beta-1i; AltName: Full=Really interesting new gene 12 protein; Flags: Precursor;
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 PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues.
CATALYTIC ACTIVITY: Cleavage of peptide bonds with very broad specificity.
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 houskeeping subunit PSMB6. Component of the spermatoproteasome, a form of the proteasome specifically found in testis. Interacts with HIV-1 TAT protein.
INTERACTION: Q9Y3R0:GRIP1; NbExp=3; IntAct=EBI-603300, EBI-5349621; Q15788:NCOA1; NbExp=3; IntAct=EBI-603300, EBI-455189; Q9Y6Q9:NCOA3; NbExp=3; IntAct=EBI-603300, EBI-81196; Q99436:PSMB7; NbExp=5; IntAct=EBI-603300, EBI-603319;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity).
DEVELOPMENTAL STAGE: Highly expressed in immature dendritic cells (at protein level).
INDUCTION: Up-regulated by interferon gamma (at protein level). Up-regulated by IRF1. Up-regulated by tumor necrosis factor-alpha (at protein level). Up-regulated by tetrodotoxin (TTX) in glial cells. Up-regulated in Crohn's bowel disease (CD). Up-regulated by heat shock treatment. Up-regulated by CD40L via the NFKB1 pathway in cancer cells.
PTM: Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.
MISCELLANEOUS: Encoded in the MHC class II region.
MISCELLANEOUS: A model for self-activation in which residue Thr-21 serves as nucleophile and Lys-53 as proton donor/acceptor has been proposed. Subunit processing of mammalian beta-subunits proceeds via a novel ordered two-step mechanism involving autocatalysis.
SIMILARITY: Belongs to the peptidase T1B family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: PSMB9
CDC HuGE Published Literature: PSMB9
Positive Disease Associations: diabetes, type 1 , Forced Vital Capacity , Graves disease , malaria; hypoglycemia; hyperparasitemia , Myocardial Infarction , psoriasis
Related Studies:
  1. diabetes, type 1
    Kawaguchi Y et al. 1994, Absence of association of TAP and LMP genes with type 1 (insulin-dependent) diabetes mellitus., Life sciences. 1994 ;54(26):2049-53. [PubMed 7911550]
  2. Forced Vital Capacity
    , , . [PubMed 0]
  3. Graves disease
    Heward JM et al. 1999, Association of the large multifunctional proteasome (LMP2) gene with Graves' disease is a result of linkage disequilibrium with the HLA haplotype DRB1*0304-DQB1*02-DQA1*0501., Clinical endocrinology. 1999 Jul;51(1):115-8. [PubMed 10468973]
    These results show that association of the LMP 2 locus with Graves' disease is due to linkage disequilibrium with the associated HLA haplotype DRB1*0304-DQB1*02-DQA1*0501.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D013749 Tetrachlorodibenzodioxin
  • D014635 Valproic Acid
  • D002737 Chloroprene
  • D004051 Diethylhexyl Phthalate
  • C017947 sodium arsenite
  • C032668 1-nitropyrene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
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-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.3069-0.338 Picture PostScript Text
3' UTR -80.73319-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000243 - Pept_T1A_subB
IPR016050 - Proteasome_bsu_CS
IPR001353 - Proteasome_sua/b
IPR023333 - Proteasome_suB-type

Pfam Domains:
PF00227 - Proteasome A-type and B-type

SCOP Domains:
56235 - N-terminal nucleophile aminohydrolases (Ntn hydrolases)

ModBase Predicted Comparative 3D Structure on P28065
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  BX641100 - Homo sapiens mRNA; cDNA DKFZp686G10229 (from clone DKFZp686G10229).
AK303118 - Homo sapiens cDNA FLJ54210 complete cds, moderately similar to Proteasome subunit beta type 9 precursor (EC 3.4.25.1).
BC008795 - Homo sapiens cDNA clone IMAGE:3626111, **** WARNING: chimeric clone ****.
BC018885 - Homo sapiens cDNA clone IMAGE:3626664, **** WARNING: chimeric clone ****.
BC065513 - Homo sapiens proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2), mRNA (cDNA clone MGC:70470 IMAGE:5749985), complete cds.
X62741 - H.sapiens RING12 mRNA.
S75169 - LMP2=proteasome LMP2.s {alternatively spliced} [human, EBV-transformed B lymphoblastoid typing cell lines, mRNA, 645 nt].
U01025 - Human proteasome-related (LMP-2) mRNA, complete cds.
AB528725 - Synthetic construct DNA, clone: pF1KB6989, Homo sapiens PSMB9 gene for proteasome (prosome, macropain) subunit, beta type, 9, without stop codon, in Flexi system.
CR541656 - Homo sapiens full open reading frame cDNA clone RZPDo834B0927D for gene PSMB9, proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2); complete cds, without stopcodon.
CU688056 - Synthetic construct Homo sapiens gateway clone IMAGE:100023193 5' read PSMB9 mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03050 - Proteasome

BioCarta from NCI Cancer Genome Anatomy Project
h_mhcPathway - Antigen Processing and Presentation

-  Other Names for This Gene
  Alternate Gene Symbols: B0V0T1, LMP2, NM_002800, NP_002791, P28065, PSB9_HUMAN, PSMB6i, Q16523, Q5JNW4, RING12
UCSC ID: uc011hfe.2
RefSeq Accession: NM_002800
Protein: P28065 (aka PSB9_HUMAN