USP12 ubiquitin specific peptidase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP12provided by HGNC
Official Full Name: ubiquitin specific peptidase 12provided by HGNC
Primary source: HGNC:HGNC:20485
See related: Ensembl:ENSG00000152484 MIM:603091; AllianceGenome:HGNC:20485
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: UBH1; USP12L1
Summary: Enables cysteine-type endopeptidase activity and thiol-dependent deubiquitinase. Involved in protein deubiquitination. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 15.7), lymph node (RPKM 15.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (27066156..27171811, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (26286900..26392536, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (27640293..27745948, complement)

Chromosome 13 - NC_000013.11 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?

USP12 regulates ER stress-associated osteogenesis in human periodontal ligament cells under tension stress.
Title: USP12 regulates ER stress-associated osteogenesis in human periodontal ligament cells under tension stress.
USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.
Title: USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.
USP12 positively regulates M-MDSC function to inhibit antitumour immunity through deubiquitinating and stabilizing p65.
Title: USP12 positively regulates M-MDSC function to inhibit antitumour immunity through deubiquitinating and stabilizing p65.
USP12 downregulation orchestrates a protumourigenic microenvironment and enhances lung tumour resistance to PD-1 blockade.
Title: USP12 downregulation orchestrates a protumourigenic microenvironment and enhances lung tumour resistance to PD-1 blockade.
Downregulation of USP12 inhibits tumor growth via the p38/MAPK pathway in hepatocellular carcinoma.
Title: Downregulation of USP12 inhibits tumor growth via the p38/MAPK pathway in hepatocellular carcinoma.
WDR20 plays a crucial role in as a "targeting subunit" that modulates CRM1-dependent shuttling of the USP12/UAF1/WDR20 complex between the plasma membrane, cytoplasm and nucleus.
Title: WDR20 regulates shuttling of the USP12 deubiquitinase complex between the plasma membrane, cytoplasm and nucleus.
USP12 deubiquitinates MDM2 and AR, which in turn controls the levels of the TP53 tumour suppressor and AR oncogene in prostate cancer.
Title: Molecular mechanism of the TP53-MDM2-AR-AKT signalling network regulation by USP12.
Findings indicate that deubiquitinase Usp12 (Usp12) overexpression accelerates autophagic flux and induces an approximately sixfold increase in autophagic structures as determined by ultrastructural analyses.
Title: Deubiquitinase Usp12 functions noncatalytically to induce autophagy and confer neuroprotection in models of Huntington's disease.
Our results highlight the interfaces essential for regulation of USP12 activity and show a conserved second binding of UAF1 which could be important for regulatory functions independent of USP12 activity.
Title: A conserved two-step binding for the UAF1 regulator to the USP12 deubiquitinating enzyme.
UAF1 and WDR20 interact with USP12 at two distinct sites far from its catalytic center, allosterically activating the enzyme.
Title: Allosteric Activation of Ubiquitin-Specific Proteases by β-Propeller Proteins UAF1 and WDR20.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69291 (e-PCR)
- UniSTS:82003

A008V43 (e-PCR)
- UniSTS:80983

D13S746 (e-PCR)
- UniSTS:81011

RH65149 (e-PCR)
- UniSTS:87483

RH65983 (e-PCR)
- UniSTS:31179

D13S842E (e-PCR)
- UniSTS:151517

D13S1148 (e-PCR)
- UniSTS:6642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	TAS Traceable Author Statement more info	PubMed
enables cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 12

Names: deubiquitinating enzyme 12; ubiquitin specific protease 12 like 1; ubiquitin thioesterase 12; ubiquitin thiolesterase 12; ubiquitin-hydrolyzing enzyme 1; ubiquitin-specific-processing protease 12

NP_872294.2

EC 3.4.19.12

XP_005266339.1

EC 3.4.19.12

XP_054230147.1

EC 3.4.19.12

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_182488.4 → NP_872294.2 ubiquitin carboxyl-terminal hydrolase 12

See identical proteins and their annotated locations for NP_872294.2

Status: VALIDATED

Source sequence(s)

AF022789, AL355473, BC026072

Consensus CDS

CCDS31952.1

UniProtKB/Swiss-Prot

A8K0X0, O75317, Q5VZV3, Q8TC49

Related

ENSP00000282344.6, ENST00000282344.11

Conserved Domains (1) summary

cd02663
Location:40 → 367

Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

27066156..27171811 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266282.3 → XP_005266339.1 ubiquitin carboxyl-terminal hydrolase 12 isoform X1

See identical proteins and their annotated locations for XP_005266339.1

Conserved Domains (1) summary

cd02663
Location:40 → 310

Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...