PSMB8 Gene
protein-coding GIFtS: 66
GCID: GC06M032808
|
|
proteasome (prosome, macropain) subunit, beta type, 8 (large...(Previous names: proteasome (prosome, macropain) subunit, beta type, 8 (large...)
(Previous symbol: LMP7)
| |
Aliases
for PSMB8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large MultifunctionalPeptidase 7)1 2 | | ALDD2 | | LMP71 2 3 5 | | D6S2162 | | RING101 2 3 5 | | JMP2 | | PSMB5i1 2 3 | | NKJO2 | | D6S216E1 2 | | Low Molecular Weight Protein 72 | | Low Molecular Mass Protein 72 3 | | Protease Component C132 | | Macropain Subunit C132 3 | | Proteasome Catalytic Subunit 3i2 | | Multicatalytic Endopeptidase Complex Subunit C132 3 | | Proteasome Subunit Beta 5i2 | | Proteasome Component C132 3 | | Proteasome Subunit Beta Type-82 | | Really Interesting New Gene 10 Protein2 3 | | Proteasome Subunit Y22 | | EC 3.4.25.13 8 | | Proteasome-Related Gene 72 | | Beta5i1 | | Y23 | | Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large MultifunctionalProtease 7)1 | | Proteasome Subunit Beta-5i3 |
Export aliases for PSMB8 gene to outside databasesPrevious GC identifers: GC06M032805 GC06M032579 GC06M032855 GC06M032916 |
Summaries
for PSMB8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PSMB8:
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The corestructure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 ringsare composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration andcleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modifiedproteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of theproteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in theclass II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferonand this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolyticprocessing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have beenidentified; both isoforms are processed to yield the same mature subunit. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062Function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleavepeptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. Theproteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate classI binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave modelpeptides 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 inflammatoryresponse pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasomedeficiency. Required for the differentiation of preadipocytes into adipocytes
Gene Wiki entry for PSMB8
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1
- NT_167248.1 NT_167249.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PSMB8 gene promoter:
STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for PSMB8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 6p21.3PSMB8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
6/7 alternative locations (see all 7):
| Chr6-,ALT_REF_LOCI_5 32,756,794-32,761,002 | Chr6-,ALT_REF_LOCI_4 32,885,349-32,889,567 | Chr6-,ALT_REF_LOCI_3 32,786,475-32,801,731 | | Chr6-,ALT_REF_LOCI_6 32,737,204-32,777,003 | Chr6-,ALT_REF_LOCI_2 32,730,817-32,774,224 | Chr6-,ALT_REF_LOCI_1 32,792,101-32,804,619 | |
|
Proteins
for PSMB8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 coreis composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The twoend 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 theimmunoproteasome where it displaces the equivalent housekeeping subunit PSMB5. Directly interacts with POMP. Interactswith HIV-1 TAT protein. Interacts with TAP1
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity)
Developmental stage: Highly expressed in immature dendritic cells (at protein level)
Secondary accessions: B0UZC0 Q29824 Q5JNW6 Q5QNR8 Q96J48Alternative 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
Post-translational modifications:
Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolyticactivity (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P28062
4 DME Specific Peptides for PSMB8 (P28062)
PSMB8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_004150.1 NP_683720.2
ENSEMBL proteins: ENSP00000378748 ENSP00000364016 ENSP00000364015 Reactome Protein details: P28062
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
PSMB8 for ontologies About GeneDecksing
PSMB8 Antibody Products:
Assay Products for PSMB8: |
Protein
Domains /
Families
for PSMB8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PSMB8 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P28062ProtoNet protein and cluster: P28062 1 Blocks protein family: IPB000243 Proteasome B-type subunit
UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062Similarity: Belongs to the peptidase T1B family |
Function
for PSMB8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062Function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleavepeptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. Theproteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate classI binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave modelpeptides 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 inflammatoryresponse pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasomedeficiency. Required for the differentiation of preadipocytes into adipocytesCatalytic activity: Cleavage of peptide bonds with very broad specificityInduction: 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 theselective inhibitor PR-957. Down-regulated in mature dendritic cells by HSV-1 infection. Up-regulated by heat shocktreatment Genatlas biochemistry entry for PSMB8:multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component 7,beta-type subunit,stimulated byinterferon gamma,involved in the degradation of cytoplasmic antigens for MHC class I antigen presentation pathways
Enzyme Number (IUBMB): EC 3.4.25.11 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSMB8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSMB8 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PSMB8 (NM_004159) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PSMB8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSMB8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMB8 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004298 | threonine-type endopeptidase activity |
IEA | -- |
PSMB8 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for PSMB8:
Animal Models:
Mouse knock-out Psmb8tm1Hjf for PSMB8
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Psmb8):
PSMB8 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PSMB8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/25 super-pathways (see all 25) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ubiquitinated Orc1 is degraded by the proteasome | | | 2 | M Phase | | | 3 | Chks in Checkpoint Regulation | | | 4 | Antigen processing: Ubiquitination & Proteasome degradation | | | 5 | Cytokine Signaling in Immune system | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for PSMB8
5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PSMB8 (see all 12)
1  GeneGo (Thomson Reuters) Pathway for PSMB8
1  BioSystems Pathway for PSMB8
5/102 
Reactome Pathways for PSMB8 (see all 102)
1 
Kegg Pathway (Kegg details for PSMB8):
PSMB8 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PSMB8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/35 Interacting proteins for PSMB8 (P280623 ENSP000003640164) via UniProtKB, MINT, STRING, and/or I2D (see all 35)About this table
Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000075 | cell cycle checkpoint |
TAS | -- | | GO:0000082 | G1/S transition of mitotic cell cycle |
TAS | -- | | GO:0000084 | S phase of mitotic cell cycle |
TAS | -- | | GO:0000209 | protein polyubiquitination |
TAS | -- | | GO:0000216 | M/G1 transition of mitotic cell cycle |
TAS | -- |
PSMB8 for ontologies About GeneDecksing
|
Drugs & Compounds
for PSMB8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PSMB8 for compounds About GeneDecksing
 Browse Tocris compounds for PSMB8
1 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about PSMB8 / PSB8
|
Transcripts
for PSMB8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0041595 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000490613 ENST00000395339 ENST00000374882(uc003oce.3 uc011dqh.2)
ENST00000374881(uc003ocf.3) ENST00000484003
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSMB8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSMB8 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): PSMB8 (NM_004159) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PSMB8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSMB8 |
Additional cDNA 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 24/479 AceView cDNA sequences (see all 479): BE646272 AI417902 BM823136 BF590563 AI368069 AW445180 CA430061 BG108416 BU196748 AA100479 CR621259 BM781508 BC001114 AA514303 AI718891 BQ946144 BM845490 BM781476 BM549227 CR596244 BQ954940 BU951889 AI870930 BE395679
GeneLoc Exon Structure
|
Expression
for PSMB8 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PSMB8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGAAGATG
About this image
See PSMB8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PSMB8
SOURCE GeneReport for Unigene cluster: Hs.180062
SABiosciences Custom PCR Arrays for PSMB8
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PSMB8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PSMB8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PSMB8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PSMB8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMB8 |
Orthologs
for PSMB8 gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for PSMB8 gene from 7/29 species (see all 29) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
PSMB86 |
-- |
71(a) |
1 ↔ 1 |
GL344036.1(27859-37384) |
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 |
Proteasome Beta Subunit family member (pbs-5) |
36(a) |
possible ortholog |
I(14718981-14720471) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT3G263406PBE16 |
proteasome subunit beta type-5-A |
45(a)41(a) |
many ↔ manymany ↔ many |
3(9650417-9652897) 1(4452212-4454876) |
rice
(Oryza sativa) |
Liliopsida |
-- |
peptidase, T1 family, putative, expressed |
43(a) |
1 → many |
6(2770070-2773077) |
ENSEMBL Gene Tree for PSMB8 (if available)
TreeFam Gene Tree for PSMB8 (if available) |
Paralogs
for PSMB8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PSMB8 gene
- PSMB52 PSMB112
3 SIMAP similar genes for PSMB8 using alignment to 4 protein entries: PSB8_HUMAN (see all proteins):PSMB5 PSMB11 PSMB6
PSMB8 for paralogs About GeneDecksing
|
Genomic Variants
for PSMB8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PSMB8 (32808494 - 32812712 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PSMB8: --
Human Gene Mutation Database (HGMD): PSMB8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PSMB8 |
|
Disorders
/ Diseases
for PSMB8 gene
(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.)
About This Section
|
PSMB8 for disorders About GeneDecksing
OMIM gene information: 177046
OMIM disorders: --
UniProtKB/Swiss-Prot: PSB8_HUMAN, P28062
Defects in PSMB8 are the cause of Nakajo syndrome (NKJO) [MIM:256040]; also called joint contractures muscularatrophy microcytic anemia and panniculitis-induced lipodystrophy. An autosomal recessive autoinflammatory disordercharacterized by childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet,erythematous skin lesions with subsequent development of lipodystrophy, and laboratory evidence of immunedysregulation. Accompanying features include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia Note=Mutation Met-75 has been found in chronic atypical neutrophilic dermatosis with lipodystrophy andelevated 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 amononuclear interstitial infiltrate in the dermis that seems pathognomonic for CANDLE syndrome (PubMed:21953331)
20/73  diseases for PSMB8 (see all 73): About MalaCardschronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature nakajo syndrome type 1 diabetes mellitus jmp syndrome
microcytic anemia squamous cell carcinoma lymphocytic choriomeningitis diabetes mellitus
ankylosing spondylitis cardiac sarcoidosis oral squamous cell carcinoma esophageal squamous cell carcinoma
systemic lupus erythematosus lupus erythematosus lipodystrophy atopic dermatitis
panniculitis acute lymphoblastic leukemia muscular atrophy lymphoblastic leukemia
3 diseases from the University of Copenhagen DISEASES database for PSMB8:JMP syndrome Panniculitis Lipodystrophy 10/16 Novoseek disease relationships for PSMB8 gene (see all 16) About this table
Genetic Association Database (GAD): PSMB8
Human Genome Epidemiology (HuGE) Navigator: PSMB8 (36 documents)
Export disorders for PSMB8 gene to outside databases
|
Publications
for PSMB8 gene (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)
About This Section
|
PubMed articles for PSMB8 gene, integrated from 9 sources (see all 225):
(articles sorted by number of sources associating them with PSMB8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2001)
- 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. (2009)
- [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....Moibenko A.A. (2005)
- 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. (2005)
- 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. (2002)
- [Involvement of TAP2 and LMP7 gene polymorphisms in HCV infection] (PubMed id 11494532)1, 4, 9 Kuzushita N....Hayashi N. (2001)
- Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis. (PubMed id 11737038)1, 4, 9 Lee H.J....Kim J.W. (2001)
- A single nucleotide polymorphism of the low molecular mass polypeptide 7 gene influences the interferon response in patients with chronic hepatitis C. (PubMed id 12225333)1, 4, 9 Sugimoto Y....Hayashi N. (2002)
- DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing. (PubMed id 1453454)1, 2, 9 Beck S....Trowsdale J. (1992)
- Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. (PubMed id 21953331)1, 2 Liu Y....Zlotogorski A. (2011)
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External Searches for PSMB8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing PSMB8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PSMB8 gene
(According to HUGE)
About This Section
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Specialized Databases showing PSMB8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for PSMB8 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| 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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Products
for PSMB8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for PSMB8 | | OriGene shRNA RFP for PSMB8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PSMB8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PSMB8 | | | OriGene Protein Over-expression Lysate for PSMB8 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PSMB8 | | OriGene 3'-UTR Clone for PSMB8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSMB8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSMB8 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for PSMB8 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for PSMB8 | | OriGene Custom Protein Services for PSMB8 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PSMB8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PSMB8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSMB8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PSMB8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PSMB8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PSMB8 |
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| | | | Search Tocris compounds for PSMB8 |
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 | | | PSMB8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMB8 |
|  |  |  | | | | ThermoFisher Antibody for PSMB8 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSMB8 |
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