USP14 ubiquitin specific peptidase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP14provided by HGNC
Official Full Name: ubiquitin specific peptidase 14provided by HGNC
Primary source: HGNC:HGNC:12612
See related: Ensembl:ENSG00000101557 MIM:607274; AllianceGenome:HGNC:12612
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: TGT; Ubp6
Summary: This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 16.7), prostate (RPKM 15.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.32

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (158557..214629)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (312304..368380)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (158557..214629)

Chromosome 18 - NC_000018.10 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

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deubiquitinase USP14 is upregulated in Crohn's disease and inhibits the NOD2 pathway mediated inflammatory response in vitro.
Title: Deubiquitinase USP14 is upregulated in Crohn's disease and inhibits the NOD2 pathway mediated inflammatory response in vitro.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Title: Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Usp14 deficiency removes alpha-synuclein by regulating S100A8/A9 in Parkinson's disease.
Title: Usp14 deficiency removes α-synuclein by regulating S100A8/A9 in Parkinson's disease.
Deubiquitination of CIB1 by USP14 promotes lenvatinib resistance via the PAK1-ERK1/2 axis in hepatocellular carcinoma.
Title: Deubiquitination of CIB1 by USP14 promotes lenvatinib resistance via the PAK1-ERK1/2 axis in hepatocellular carcinoma.
Structural Dynamics Analysis of USP14 Activation by AKT-Mediated Phosphorylation.
Title: Structural Dynamics Analysis of USP14 Activation by AKT-Mediated Phosphorylation.
The regulatory role and mechanism of USP14 in endothelial cell pyroptosis induced by coronary heart disease.
Title: The regulatory role and mechanism of USP14 in endothelial cell pyroptosis induced by coronary heart disease.
Mechanistic insights into the role of USP14 in adipose tissue macrophage recruitment and insulin resistance in obesity.
Title: Mechanistic insights into the role of USP14 in adipose tissue macrophage recruitment and insulin resistance in obesity.
GSTM3 enhances radiosensitivity of nasopharyngeal carcinoma by promoting radiation-induced ferroptosis through USP14/FASN axis and GPX4.
Title: GSTM3 enhances radiosensitivity of nasopharyngeal carcinoma by promoting radiation-induced ferroptosis through USP14/FASN axis and GPX4.
Ubiquitin-specific protease 14 targets PFKL-mediated glycolysis to promote the proliferation and migration of oral squamous cell carcinoma.
Title: Ubiquitin-specific protease 14 targets PFKL-mediated glycolysis to promote the proliferation and migration of oral squamous cell carcinoma.
USP14 promotes the proliferation of cervical cancer via upregulating beta-catenin.
Title: USP14 promotes the proliferation of cervical cancer via upregulating β-catenin.

Submit: New GeneRIF Correction See all GeneRIFs (82)

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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Markers

RH65814 (e-PCR)
- UniSTS:5382

RH65926 (e-PCR)
- UniSTS:52769

USP14__5036 (e-PCR)
- UniSTS:462943

D18S898E (e-PCR)
- UniSTS:71017

RH80953 (e-PCR)
- UniSTS:88960

D18S1294 (e-PCR)
- UniSTS:46746

D18S1244 (e-PCR)
- UniSTS:46747

RH47243 (e-PCR)
- UniSTS:37029

SHGC-30016 (e-PCR)
- UniSTS:12971

A003A48 (e-PCR)
- UniSTS:39639

D18S918E (e-PCR)
- UniSTS:150519

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K63-linked deubiquitinase activity	EXP Inferred from Experiment more info	PubMed
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 endopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables deubiquitinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables proteasome binding	IBA Inferred from Biological aspect of Ancestor more info
enables proteasome binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein K48-linked deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 14

Names: deubiquitinating enzyme 14; tRNA-guanine transglycosylase, 60-kD subunit; ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase); ubiquitin specific protease 14 (tRNA-guanine transglycosylase); ubiquitin thioesterase 14; ubiquitin thiolesterase 14; ubiquitin-specific processing protease 14

NP_001032411.1

EC 3.4.19.12

NP_005142.1

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_001037334.2 → NP_001032411.1 ubiquitin carboxyl-terminal hydrolase 14 isoform b

See identical proteins and their annotated locations for NP_001032411.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, but maintains the reading frame. The resulting protein (isoform b) is shorter than isoform a.

Source sequence(s)

AK098497, AP000845, BC003556, BG717018, BU161860, CA438203, CR976282

Consensus CDS

CCDS32781.1

UniProtKB/TrEMBL

A6NJA2

Related

ENSP00000464447.1, ENST00000582707.5

Conserved Domains (3) summary

cd02657
Location:71 → 446

Peptidase_C19A; 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 hydrolyse bonds involving the carboxyl ...

pfam00443
Location:69 → 445

UCH; Ubiquitin carboxyl-terminal hydrolase

cl00155
Location:5 → 68

UBQ; Ubiquitin-like proteins
NM_005151.4 → NP_005142.1 ubiquitin carboxyl-terminal hydrolase 14 isoform a

See identical proteins and their annotated locations for NP_005142.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK098497, AP000845, BC003556, BU161860, CA438203

Consensus CDS

CCDS32780.1

UniProtKB/Swiss-Prot

B7Z4N8, J3QRZ5, P54578, Q53XY5

UniProtKB/TrEMBL

B2RD79

Related

ENSP00000261601.6, ENST00000261601.8

Conserved Domains (2) summary

cd02657
Location:106 → 481

Peptidase_C19A; 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 hydrolyse bonds involving the carboxyl ...

cd16104
Location:4 → 76

Ubl_USP14_like; ubiquitin-like (Ubl) domain found in ubiquitin carboxyl-terminal hydrolase 14 (USP14) and similar proteins