PSMB11 proteasome subunit beta 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMB11provided by HGNC
Official Full Name: proteasome subunit beta 11provided by HGNC
Primary source: HGNC:HGNC:31963
See related: Ensembl:ENSG00000222028 MIM:611137; AllianceGenome:HGNC:31963
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BETA5T
Summary: Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23042212..23044060)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17242832..17244680)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23511421..23513269)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We analysed thymic tissues from patients with trisomy 13 (n = 4), trisomy 18 (n = 14) and trisomy 21 (n = 13) for histological alterations, and for the expression of functionally important molecules such as beta5t, a thymoproteasome subunit, and cathepsins.
Title: Decreased expression of thymus-specific proteasome subunit β5t in Down syndrome patients.
Histological diversity of type AB thymoma correlates with expression of a functional marker beta5t and abundance of TdT-positive lymphocytes.
Title: Expression of thymoproteasome subunit β5t in type AB thymoma.
provide the first evidence that the mechanism underlying BTZ resistance in these tumor cells is impaired binding of BTZ to the mutant beta5 subunit of the proteasome
Title: Impaired bortezomib binding to mutant β5 subunit of the proteasome is the underlying basis for bortezomib resistance in leukemia cells.
Proteasome beta5t is expressed in most type B and in some type AB thymomas and is a marker useful in differentiating type B3 thymomas from thymic carcinomas when used in combination with other diagnostic markers.
Title: Expression of proteasome subunit β5t in thymic epithelial tumors.
Human beta5t was expressed in approximately 80% of cortical thymic epithelial cells and some cortical dendritic cells
Title: Exclusive expression of proteasome subunit {beta}5t in the human thymic cortex.
results suggest a key role for beta5t in generating the MHC class I-restricted CD8(+) T cell repertoire during thymic selection
Title: Regulation of CD8+ T cell development by thymus-specific proteasomes.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
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 CD8-positive, alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay 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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: proteasome subunit beta type-11

Names: proteasome (prosome, macropain) subunit, beta type, 11; proteasome subunit beta 5T; proteasome subunit beta-5t

NP_001093250.1

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_001099780.2 → NP_001093250.1 proteasome subunit beta type-11

See identical proteins and their annotated locations for NP_001093250.1

Status: VALIDATED

Source sequence(s)

AB299437, AK122797, AL132780

Consensus CDS

CCDS41923.1

UniProtKB/Swiss-Prot

A5LHX3

UniProtKB/TrEMBL

B3KVC3

Related

ENSP00000386212.2, ENST00000408907.5

Conserved Domains (1) summary

cd03761
Location:50 → 237

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 ...