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
110	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (158557..214629)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (312304..368380)
105.20220307	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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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?

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
Title: Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
A ubiquitinome analysis to study the functional roles of the proteasome associated deubiquitinating enzymes USP14 and UCH37.
Title: A ubiquitinome analysis to study the functional roles of the proteasome associated deubiquitinating enzymes USP14 and UCH37.
USP14-regulated allostery of the human proteasome by time-resolved cryo-EM.
Title: USP14-regulated allostery of the human proteasome by time-resolved cryo-EM.
Ubiquitin-Specific Protease 14 (USP14) Aggravates Inflammatory Response and Apoptosis of Lung Epithelial Cells in Pneumonia by Modulating Poly (ADP-Ribose) Polymerase-1 (PARP-1).
Title: Ubiquitin-Specific Protease 14 (USP14) Aggravates Inflammatory Response and Apoptosis of Lung Epithelial Cells in Pneumonia by Modulating Poly (ADP-Ribose) Polymerase-1 (PARP-1).
USP14 maintains HIF1-alpha stabilization via its deubiquitination activity in hepatocellular carcinoma.
Title: USP14 maintains HIF1-α stabilization via its deubiquitination activity in hepatocellular carcinoma.
USP14 Regulates Cancer Cell Growth in a Fatty Acid Synthase-Independent Manner.
Title: USP14 Regulates Cancer Cell Growth in a Fatty Acid Synthase-Independent Manner.
Deubiquitylation and stabilization of Acf7 by ubiquitin carboxylterminal hydrolase 14 (USP14) is critical for NSCLC migration.
Title: Deubiquitylation and stabilization of Acf7 by ubiquitin carboxylterminal hydrolase 14 (USP14) is critical for NSCLC migration.
Inhibiting USP14 ameliorates inflammatory responses in trophoblast cells by suppressing MAPK/NF-kappaB signaling.
Title: Inhibiting USP14 ameliorates inflammatory responses in trophoblast cells by suppressing MAPK/NF-κB signaling.
Inhibition of USP14 induces ER stress-mediated autophagy without apoptosis in lung cancer cell line A549.
Title: Inhibition of USP14 induces ER stress-mediated autophagy without apoptosis in lung cancer cell line A549.
Inhibition of USP14 suppresses the formation of foam cell by promoting CD36 degradation.
Title: Inhibition of USP14 suppresses the formation of foam cell by promoting CD36 degradation.

Submit: New GeneRIF Correction See all GeneRIFs (62)

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

Homology

Homologs of the USP14 gene: The USP14 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 454 organisms have orthologs with human gene USP14
Orthologs

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	PubMed
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 endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables proteasome binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 ER-associated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endopeptidase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	TAS Traceable Author Statement more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein K63-linked deubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein deubiquitination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of proteasomal protein catabolic process	IBA Inferred from Biological aspect of Ancestor 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
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 plasma membrane	IDA Inferred from Direct Assay more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info
located_in synapse	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/Swiss-Prot

P54578

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

P54578, Q53XY5

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