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Aliases for PSMB8 Gene

Aliases for PSMB8 Gene

  • Proteasome Subunit Beta 8 2 3 5
  • Multicatalytic Endopeptidase Complex Subunit C13 3 4
  • Really Interesting New Gene 10 Protein 3 4
  • Low Molecular Mass Protein 7 3 4
  • Proteasome Component C13 3 4
  • Macropain Subunit C13 3 4
  • EC 3.4.25.1 4 63
  • PSMB5i 3 4
  • RING10 3 4
  • LMP7 3 4
  • Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Peptidase 7) 3
  • Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Protease 7) 2
  • Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 2
  • Large Multifunctional Peptidase 7 2
  • Proteasome Catalytic Subunit 3i 3
  • Low Molecular Weight Protein 7 3
  • Proteasome Subunit Beta 5i 3
  • Proteasome Subunit Beta-5i 4
  • Proteasome-Related Gene 7 3
  • Protease Component C13 3
  • Proteasome Subunit Y2 3
  • D6S216E 3
  • D6S216 3
  • ALDD 3
  • NKJO 3
  • JMP 3
  • Y2 4

External Ids for PSMB8 Gene

Previous HGNC Symbols for PSMB8 Gene

  • LMP7

Previous GeneCards Identifiers for PSMB8 Gene

  • GC06M032805
  • GC06M032579
  • GC06M032855
  • GC06M032916
  • GC06M032808

Summaries for PSMB8 Gene

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 Subunit Beta 8) is a Protein Coding gene. Diseases associated with PSMB8 include autoinflammation, lipodystrophy, and dermatosis syndrome and jmp syndrome. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include threonine-type endopeptidase activity. An important paralog of this gene is PSMB11.

UniProtKB/Swiss-Prot for PSMB8 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMB8 Gene

Genomics for PSMB8 Gene

Regulatory Elements for PSMB8 Gene

Promoters for PSMB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSMB8 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PSMB8 gene promoter:

Genomic Location for PSMB8 Gene

Chromosome:
6
Start:
32,840,717 bp from pter
End:
32,844,935 bp from pter
Size:
4,219 bases
Orientation:
Minus strand

Genomic View for PSMB8 Gene

Genes around PSMB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PSMB8 Gene

  • Protein details for PSMB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28062-PSB8_HUMAN
    Recommended name:
    Proteasome subunit beta type-8
    Protein Accession:
    P28062
    Secondary Accessions:
    • B0UZC0
    • Q29824
    • Q5JNW6
    • Q5QNR8
    • Q96J48

    Protein attributes for PSMB8 Gene

    Size:
    276 amino acids
    Molecular mass:
    30354 Da
    Quaternary structure:
    • 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. Component 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.

    Alternative splice isoforms for PSMB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMB8 Gene

Proteomics data for PSMB8 Gene at MOPED

Selected DME Specific Peptides for PSMB8 Gene

Post-translational modifications for PSMB8 Gene

  • Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.
  • Ubiquitination at Lys 153, Lys 179, and Lys 252
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMB8 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PSMB8 (PSMB8)
  • Cloud-Clone Corp. Antibodies for PSMB8

Domains & Families for PSMB8 Gene

Gene Families for PSMB8 Gene

Suggested Antigen Peptide Sequences for PSMB8 Gene

Graphical View of Domain Structure for InterPro Entry

P28062

UniProtKB/Swiss-Prot:

PSB8_HUMAN :
  • Belongs to the peptidase T1B family.
Family:
  • Belongs to the peptidase T1B family.
genes like me logo Genes that share domains with PSMB8: view

Function for PSMB8 Gene

Molecular function for PSMB8 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of peptide bonds with very broad specificity.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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 Crohns 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.

Enzyme Numbers (IUBMB) for PSMB8 Gene

genes like me logo Genes that share phenotypes with PSMB8: view

Human Phenotype Ontology for PSMB8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSMB8 Gene

MGI Knock Outs for PSMB8:

Animal Model Products

CRISPR Products

miRNA for PSMB8 Gene

miRTarBase miRNAs that target PSMB8

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PSMB8 Gene

Localization for PSMB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMB8 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSMB8 Gene COMPARTMENTS Subcellular localization image for PSMB8 gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PSMB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PSMB8: view

Pathways & Interactions for PSMB8 Gene

SuperPathways for PSMB8 Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
2 Interleukin-3, 5 and GM-CSF signaling
3 Chks in Checkpoint Regulation
4 Infectious disease
.48
5 Immune System
genes like me logo Genes that share pathways with PSMB8: view

Pathways by source for PSMB8 Gene

1 BioSystems pathway for PSMB8 Gene
1 KEGG pathway for PSMB8 Gene

Gene Ontology (GO) - Biological Process for PSMB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with PSMB8: view

No data available for SIGNOR curated interactions for PSMB8 Gene

Drugs & Compounds for PSMB8 Gene

(8) Drugs for PSMB8 Gene - From: ApexBio, Novoseek, DGIdb, DrugBank, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
carfilzomib Approved Pharma other, Inhibitor, Target Other, 20S Proteasome Inhibitor 0
Bortezomib Approved, Experimental, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 769
Kyprolis Approved July 2012 Pharma 0
Celastrol Pharma Antioxidant, anti-inflammatory and immunosuppressive agent 0
Dihydroeponemycin Pharma Proteasome inhibitor,antitumor reagent,eponemycin ddrivative 0

(4) ApexBio Compounds for PSMB8 Gene

Compound Action Cas Number
Celastrol Antioxidant, anti-inflammatory and immunosuppressive agent 34157-83-0
Dihydroeponemycin Proteasome inhibitor,antitumor reagent,eponemycin ddrivative 126463-64-7
MLN2238 β5 site of the 20S proteasome inhibitor 1072833-77-2
ONX-0914 (PR-957) Immunoproteasome inhibitor,potent and selective 960374-59-8
genes like me logo Genes that share compounds with PSMB8: view

Transcripts for PSMB8 Gene

Unigene Clusters for PSMB8 Gene

Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSMB8 Gene

No ASD Table

Relevant External Links for PSMB8 Gene

GeneLoc Exon Structure for
PSMB8
ECgene alternative splicing isoforms for
PSMB8

Expression for PSMB8 Gene

mRNA expression in normal human tissues for PSMB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMB8 Gene

This gene is overexpressed in Whole Blood (x6.8).

Protein differential expression in normal tissues from HIPED for PSMB8 Gene

This gene is overexpressed in Liver, secretome (13.0), Tlymphocyte (7.3), and Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSMB8 Gene



SOURCE GeneReport for Unigene cluster for PSMB8 Gene Hs.180062

genes like me logo Genes that share expression patterns with PSMB8: view

Protein tissue co-expression partners for PSMB8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PSMB8 Gene

Orthologs for PSMB8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PSMB8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PSMB8 35
  • 87.2 (n)
  • 88.77 (a)
PSMB8 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSMB8 35
  • 87.08 (n)
  • 85.14 (a)
PSMB8 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psmb8 35
  • 84.06 (n)
  • 89.05 (a)
Psmb8 16
Psmb8 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSMB8 35
  • 98.91 (n)
  • 98.91 (a)
PSMB8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmb8 35
  • 84.12 (n)
  • 89.09 (a)
oppossum
(Monodelphis domestica)
Mammalia PSMB8 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSMB8 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMB8 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmb8 35
  • 67.42 (n)
  • 71.54 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.162 35
zebrafish
(Danio rerio)
Actinopterygii psmb8 35
  • 64.93 (n)
  • 68.66 (a)
psmb8 36
  • 67 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8289 35
fruit fly
(Drosophila melanogaster)
Insecta CG9868 37
  • 51 (a)
Prosbgr5 37
  • 52 (a)
CG31742 36
  • 40 (a)
ManyToMany
Prosbeta5 36
  • 49 (a)
ManyToMany
Prosbeta5R 36
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pbs-5 36
  • 38 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL326C 35
  • 56.5 (n)
  • 53.66 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08228g 35
  • 51.63 (n)
  • 53.25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRE2 35
  • 54.73 (n)
  • 54.73 (a)
PRE2 36
  • 48 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09309 35
  • 58.7 (n)
  • 54.35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pts1 35
  • 54.66 (n)
  • 55.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8465 36
  • 56 (a)
OneToMany
Species with no ortholog for PSMB8:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSMB8 Gene

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

Paralogs for PSMB8 Gene

Paralogs for PSMB8 Gene

(3) SIMAP similar genes for PSMB8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PSMB8: view

Variants for PSMB8 Gene

Sequence variations from dbSNP and Humsavar for PSMB8 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_006488 -
VAR_057046 -
VAR_065204 -
VAR_065291 Nakajo syndrome (NKJO)
VAR_066449 Nakajo syndrome (NKJO)

Structural Variations from Database of Genomic Variants (DGV) for PSMB8 Gene

Variant ID Type Subtype PubMed ID
nsv830633 CNV Loss 17160897

Variation tolerance for PSMB8 Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.65; 82.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMB8 Gene

HapMap Linkage Disequilibrium report
PSMB8
Human Gene Mutation Database (HGMD)
PSMB8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMB8 Gene

Disorders for PSMB8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PSMB8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoinflammation, lipodystrophy, and dermatosis syndrome
  • jmp syndrome
jmp syndrome
  • joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
nakajo syndrome
  • nodular erythema digital changes
microcytic anemia
  • iron-refractory iron deficiency anemia
adiposis dolorosa
  • dercum disease
- elite association - COSMIC cancer census association via MalaCards
Search PSMB8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PSB8_HUMAN
  • 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. {ECO:0000269 PubMed:21129723, ECO:0000269 PubMed:21852578, ECO:0000269 PubMed:21881205, ECO:0000269 PubMed:21953331, ECO:0000269 PubMed:26524591, ECO:0000269 PubMed:26567544}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PSMB8

Genetic Association Database (GAD)
PSMB8
Human Genome Epidemiology (HuGE) Navigator
PSMB8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMB8
genes like me logo Genes that share disorders with PSMB8: view

No data available for Genatlas for PSMB8 Gene

Publications for PSMB8 Gene

  1. PSMB8 (LMP7) but not PSMB9 (LMP2) gene polymorphisms are associated to pigeon breeder's hypersensitivity pneumonitis. (PMID: 20153157) Camarena A. … Selman M. (Respir Med 2010) 3 23 48 67
  2. Differential expression of constitutive and inducible proteasome subunits in human monocyte-derived DC differentiated in the presence of IFN-alpha or IL-4. (PMID: 19065646) Tosello V. … Zanovello P. (Eur. J. Immunol. 2009) 3 23
  3. In situ analysis of the antigen-processing machinery in acute myeloid leukaemic blasts by tissue microarray. (PMID: 19148137) Hoves S. … Mackensen A. (Leukemia 2009) 3 23
  4. Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. (PMID: 19202550) Mehta A.M. … Jan Fleuren G. (Genes Chromosomes Cancer 2009) 3 23
  5. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. (PMID: 19404951) Maksymowych W.P. … Rahman P. (Arthritis Rheum. 2009) 3 23

Products for PSMB8 Gene

Sources for PSMB8 Gene

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