PSMB10 proteasome 20S subunit beta 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMB10provided by HGNC
Official Full Name: proteasome 20S subunit beta 10provided by HGNC
Primary source: HGNC:HGNC:9538
See related: Ensembl:ENSG00000205220 MIM:176847; AllianceGenome:HGNC:9538
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: LMP10; MECL1; PRAAS5; beta2i
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. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 53.2), lymph node (RPKM 48.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67934506..67936850, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (73730280..73732624, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67968409..67970753, complement)

Chromosome 16 - NC_000016.10 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
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?

this study provided novel evidence demonstrating that LMP10 is a positive regulator of NF-kB signaling, which contributes to Ang II-induced retinopathy.
Title: The immunoproteasome subunit LMP10 mediates angiotensin II-induced retinopathy in mice.
designed siRNAs that efficiently silence LMP2, LMP7 and MECL-1 gene expression.
Title: Modified siRNA effectively silence inducible immunoproteasome subunits in NSO cells.
LMP10 nuclear expression in the Human Papillomavirus (HPV)-positive group and LMP10 cytoplasmic expression in the HPV-negative group of patients correlated to better clinical outcome.
Title: Correlation of LMP10 expression and clinical outcome in Human Papillomavirus (HPV) positive and HPV-Negative tonsillar and base of tongue cancer.
Data indicate that treatment-emergent resistance to single-agent bortezomib was independent of variants in the proteasome genes PSMB1, PSMB5, PSMB6, PSMB8, PSMB9, and PSMB10.
Title: Sequence analysis of β-subunit genes of the 20S proteasome in patients with relapsed multiple myeloma treated with bortezomib or dexamethasone.
Adenovirus E1A causes down-regulation of MECL1 expression
Title: Adenovirus E1A interacts directly with, and regulates the level of expression of, the immunoproteasome component MECL1.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
These data reveal a novel "feed-forward" mechanism induced by NF-kappaB which ensures that acutely synthesized IRF-1 operates in concert with NF-kappaB to amplify the immunoproteasome and antigen-processing functions of CD40.
Title: CD40 induces antigen transporter and immunoproteasome gene expression in carcinomas via the coordinated action of NF-kappaB and of NF-kappaB-mediated de novo synthesis of IRF-1.
Multicatalytic endopeptidase complex subunit is involved in antigen presentation and is an important candidate gene for initial exploration of relationships between antigen processing genes and disease resistance.
Title: Molecular characterization, expression and mapping of porcine LMP2 and MECL-1 genes.
Impaired expression of proteasome subunits is involved in the loss of HLA class I expression in human colon cancer cells.
Title: Impaired expression of proteasome subunits and human leukocyte antigens class I in human colon cancer cells.

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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 5 MedGen: C5543027 OMIM: 619175 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological insights from 108 schizophrenia-associated genetic loci. 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	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 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
	tat	HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome	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
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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65000 (e-PCR)
- UniSTS:85016

WI-20243 (e-PCR)
- UniSTS:83031

MARC_6927-6928:992007571:1 (e-PCR)
- UniSTS:231288

MARC_6927-6928:996689844:1 (e-PCR)
- UniSTS:231288

RH79694 (e-PCR)
- UniSTS:89233

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 T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in humoral immune response	TAS Traceable Author Statement more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

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 nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of proteasome complex	TAS Traceable Author Statement 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-10

Names: low molecular mass protein 10; macropain subunit MECl-1; multicatalytic endopeptidase complex subunit MECl-1; proteasome (prosome, macropain) subunit, beta type, 10; proteasome MECl-1; proteasome catalytic subunit 2i; proteasome subunit MECL1; proteasome subunit beta 10; proteasome subunit beta 7i; proteasome subunit beta-2i; proteasome subunit beta2i

NP_002792.1

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.

mRNA and Protein(s)

NM_002801.4 → NP_002792.1 proteasome subunit beta type-10

See identical proteins and their annotated locations for NP_002792.1

Status: REVIEWED

Source sequence(s)

BM981173, BP289065

Consensus CDS

CCDS10853.1

UniProtKB/Swiss-Prot

B2R5J4, P40306, Q5U098

UniProtKB/TrEMBL

Q6IB22

Related

ENSP00000351314.4, ENST00000358514.9

Conserved Domains (2) summary

cd03763
Location:40 → 227

proteasome_beta_type_7; proteasome beta type-7 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 ...

pfam12465
Location:232 → 267

Pr_beta_C; Proteasome beta subunits C terminal