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PSMB8 proteasome 20S subunit beta 8 [ Homo sapiens (human) ]

Gene ID: 5696, updated on 3-Oct-2020

Summary

Official Symbol
PSMB8provided by HGNC
Official Full Name
proteasome 20S subunit beta 8provided by HGNC
Primary source
HGNC:HGNC:9545
See related
Ensembl:ENSG00000204264 MIM:177046
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JMP; ALDD; LMP7; NKJO; D6S216; PRAAS1; PSMB5i; RING10; D6S216E
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 49.9), spleen (RPKM 45.7) and 24 other tissues See more
Orthologs

Genomic context

See PSMB8 in Genome Data Viewer
Location:
6p21.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32840717..32844679, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32808494..32812712, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DO beta Neighboring gene transporter 2, ATP binding cassette subfamily B member Neighboring gene meiotic recombination hotspot TAP2 Neighboring gene PSMB8 antisense RNA 1 (head to head) Neighboring gene transporter 1, ATP binding cassette subfamily B member Neighboring gene proteasome 20S subunit beta 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available
Proteasome-associated autoinflammatory syndrome 1
MedGen: C4746851 OMIM: 256040 GeneReviews: Not available
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates LMP7 and MECL1 catalytic subunits of the proteasome resulting in a more efficient generation and presentation of subdominant MHC-I-binding CTL epitopes of heterologous Ags PubMed
tat HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome PubMed
tat Amino acids Lys51, Arg52, and Asp67 of HIV-1 Tat represent the proteasome binding site of Tat, and Tat amino acids 37-72 are necessary for proteasomal interaction and suppression of 11 S regulator-mediated antigen presentation PubMed
tat HIV-1 Tat inhibits the peptidase activity of the 20 S proteasome and interferes with the formation of the 20 S proteasome-11 S regulator complex PubMed
tat HIV-1 Tat binds to the alpha2, alpha4, alpha6, alpha7, beta1, beta2, beta3, beta5, beta6, beta7, LMP7/beta5i, and MECL1/beta2i subunits of the proteasome 20 S core structure and can inhibit cellular proteasome function PubMed
Vif vif HIV-1 Vif binds to the cellular cytidine deaminase APOBEC3G and targets it for degradation through an interaction with the proteasome, thereby inhibiting APOBEC3G mediated restriction of HIV-1 replication PubMed
capsid gag HIV-1 CA downregulates PA28beta and the beta2i subunit of the immunoproteasome complex in a dendritic cell line (JAWS II), whereas in primary dendritic cells, PA28alpha, beta2i, and beta5i are downregulated by CA PubMed
integrase gag-pol Proteasomal degradation of HIV-1 integrase in mammalian cells occurs by the N-end rule pathway PubMed
reverse transcriptase gag-pol Up-regulation of LMP7 by IFN-gamma enhances proteasomal degradation of HIV-1 RT and presentation of the VIYQYMDDL epitope derived from HIV-1 RT PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1491

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
threonine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
NIK/NF-kappaB signaling TAS
Traceable Author Statement
more info
 
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasomal protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasomal ubiquitin-independent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of cellular amino acid metabolic process TAS
Traceable Author Statement
more info
 
regulation of endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of mRNA stability TAS
Traceable Author Statement
more info
 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome complex IDA
Inferred from Direct Assay
more info
PubMed 
proteasome core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome core complex ISS
Inferred from Sequence or Structural Similarity
more info
 
proteasome core complex, beta-subunit complex ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatoproteasome complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
proteasome subunit beta type-8
Names
low molecular mass protein 7
low molecular weight protein 7
macropain subunit C13
multicatalytic endopeptidase complex subunit C13
protease component C13
proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)
proteasome catalytic subunit 3i
proteasome component C13
proteasome subunit Y2
proteasome subunit beta 5i
proteasome subunit beta 8
proteasome-related gene 7
really interesting new gene 10 protein
NP_004150.1
NP_683720.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028165.1 RefSeqGene

    Range
    5257..9219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1328

mRNA and Protein(s)

  1. NM_004159.5NP_004150.1  proteasome subunit beta type-8 isoform E1

    See identical proteins and their annotated locations for NP_004150.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (E1).
    Source sequence(s)
    AA807046, BC001114
    Consensus CDS
    CCDS4756.1
    UniProtKB/Swiss-Prot
    P28062
    Related
    ENSP00000364015.2, ENST00000374881.3
    Conserved Domains (1) summary
    cd03761
    Location:69256
    proteasome_beta_type_5; proteasome beta type-5 subunit. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that ...
  2. NM_148919.4NP_683720.2  proteasome subunit beta type-8 isoform E2 precursor

    See identical proteins and their annotated locations for NP_683720.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate in-frame exon in the 5' coding region, compared to variant 1. Isoform E2 has a distinct N-terminus, compared to isoform E1.
    Source sequence(s)
    BC001114, BG485076, BM781620
    Consensus CDS
    CCDS4757.1
    UniProtKB/Swiss-Prot
    P28062
    UniProtKB/TrEMBL
    X5CMJ9
    Related
    ENSP00000364016.3, ENST00000374882.7
    Conserved Domains (1) summary
    cd03761
    Location:73260
    proteasome_beta_type_5; proteasome beta type-5 subunit. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32840717..32844679 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    4145582..4149544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    4252916..4256878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    4084287..4088249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    4260070..4264032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    4139786..4143748 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    4035005..4038967 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    4239969..4243931 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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