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
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Comments and Description Text from UniProtKB
ID:PSB9_HUMAN DESCRIPTION: RecName: Full=Proteasome subunit beta type-9; EC=18.104.22.168; 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
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.
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.
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.
ModBase Predicted Comparative 3D Structure on P28065
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.