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

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; AllianceGenome:HGNC:9545
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: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32840717..32844679, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32662092..32666054, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32808494..32812456, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human Beta Defensin-2 mRNA and Proteasome Subunit beta Type 8 mRNA Analysis, Useful in Differentiating Skin Biopsies from Atopic Dermatitis and Psoriasis Vulgaris Patients.
Title: Human Beta Defensin-2 mRNA and Proteasome Subunit β Type 8 mRNA Analysis, Useful in Differentiating Skin Biopsies from Atopic Dermatitis and Psoriasis Vulgaris Patients.
Long Noncoding RNA PSMB8-AS1 Mediates the Tobacco-Carcinogen-Induced Transformation of a Human Bronchial Epithelial Cell Line by Regulating Cell Cycle.
Title: Long Noncoding RNA PSMB8-AS1 Mediates the Tobacco-Carcinogen-Induced Transformation of a Human Bronchial Epithelial Cell Line by Regulating Cell Cycle.
Peripheral blood mononuclear cell low molecular mass protein 7 in acute ischemic stroke: vertical change from admission to discharge and correlation with disability, stroke recurrence, and death.
Title: Peripheral blood mononuclear cell low molecular mass protein 7 in acute ischemic stroke: vertical change from admission to discharge and correlation with disability, stroke recurrence, and death.
HOXD9/miR-451a/PSMB8 axis is implicated in the regulation of cell proliferation and metastasis via PI3K/AKT signaling pathway in human anaplastic thyroid carcinoma.
Title: HOXD9/miR-451a/PSMB8 axis is implicated in the regulation of cell proliferation and metastasis via PI3K/AKT signaling pathway in human anaplastic thyroid carcinoma.
Immunohistochemical Identification and Assessment of the Location of Immunoproteasome Subunits LMP2 and LMP7 in Acquired Cholesteatoma.
Title: Immunohistochemical Identification and Assessment of the Location of Immunoproteasome Subunits LMP2 and LMP7 in Acquired Cholesteatoma.
Upregulation of immunoproteasome PSMB8 is associated with Parkinson's disease.
Title: Upregulation of immunoproteasome PSMB8 is associated with Parkinson's disease.
ZNF655 promotes the progression of hepatocellular carcinoma through PSMB8.
Title: ZNF655 promotes the progression of hepatocellular carcinoma through PSMB8.
Immunoproteasome subunit beta5i promotes perifascicular muscle atrophy in dermatomyositis by upregulating RIG-I.
Title: Immunoproteasome subunit β5i promotes perifascicular muscle atrophy in dermatomyositis by upregulating RIG-I.
Increased expression of the immunoproteasome subunits PSMB8 and PSMB9 by cancer cells correlate with better outcomes for triple-negative breast cancers.
Title: Increased expression of the immunoproteasome subunits PSMB8 and PSMB9 by cancer cells correlate with better outcomes for triple-negative breast cancers.
shRNAmediated knockdown of KNTC1 inhibits non-small-cell lung cancer through regulating PSMB8.
Title: shRNA‑mediated knockdown of KNTC1 inhibits non-small-cell lung cancer through regulating PSMB8.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Proteasome-associated autoinflammatory syndrome 1 MedGen: C4746851 OMIM: 256040 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70842 (e-PCR)
- UniSTS:4353

D6S2125 (e-PCR)
- UniSTS:37161

RH46789 (e-PCR)
- UniSTS:37162

D6S2042 (e-PCR)
- UniSTS:21567

RH46725 (e-PCR)
- UniSTS:9288

RH70734 (e-PCR)
- UniSTS:77400

RH69680 (e-PCR)
- UniSTS:35689

GDB:545427 (e-PCR)
- UniSTS:157586

LMP7 (e-PCR)
- UniSTS:48062

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables threonine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in antigen processing and presentation	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of proteasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome core complex	ISS Inferred from Sequence or Structural Similarity more info
part_of proteasome core complex, beta-subunit complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proteasome core complex, beta-subunit complex	ISS Inferred from Sequence or Structural Similarity more info
part_of spermatoproteasome complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

EC 3.4.25.1

NP_683720.2

EC 3.4.25.1

NCBI Reference Sequences (RefSeq)

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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

NG_028165.1 RefSeqGene

Range

5257..9219

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1328

mRNA and Protein(s)

NM_004159.5 → NP_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/TrEMBL

Q6FHU0

Related

ENSP00000364015.2, ENST00000374881.3

Conserved Domains (1) summary

cd03761
Location:69 → 256

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 ...
NM_148919.4 → NP_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

B0UZC0, P28062, Q29824, Q5JNW6, Q5QNR8, Q96J48

UniProtKB/TrEMBL

X5CMJ9, X5D2R7

Related

ENSP00000364016.4, ENST00000374882.8

Conserved Domains (1) summary

cd03761
Location:73 → 260

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 ...