USP34 ubiquitin specific peptidase 34 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP34provided by HGNC
Official Full Name: ubiquitin specific peptidase 34provided by HGNC
Primary source: HGNC:HGNC:20066
See related: Ensembl:ENSG00000115464 MIM:615295; AllianceGenome:HGNC:20066
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
Summary: Enables cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Involved in positive regulation of canonical Wnt signaling pathway and protein K48-linked deubiquitination. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 17.6), lymph node (RPKM 17.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p15

Exon count:: 80

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (61187463..61471087, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (61193315..61476925, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (61414598..61698222, complement)

Chromosome 2 - NC_000002.12 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 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?

An siRNA library screen identifies CYLD and USP34 as deubiquitinases that regulate GPCR-p38 MAPK signaling and distinct inflammatory responses.
Title: An siRNA library screen identifies CYLD and USP34 as deubiquitinases that regulate GPCR-p38 MAPK signaling and distinct inflammatory responses.
Stabilization of Pin1 by USP34 promotes Ubc9 isomerization and protein sumoylation in glioma stem cells.
Title: Stabilization of Pin1 by USP34 promotes Ubc9 isomerization and protein sumoylation in glioma stem cells.
Structural Insights into the Catalytic Mechanism and Ubiquitin Recognition of USP34.
Title: Structural Insights into the Catalytic Mechanism and Ubiquitin Recognition of USP34.
The deubiquitinase USP34 stabilizes SOX2 and induces cell survival and drug resistance in laryngeal squamous cell carcinoma.
Title: The deubiquitinase USP34 stabilizes SOX2 and induces cell survival and drug resistance in laryngeal squamous cell carcinoma.
The study unveils a previously unknown function of USP34 in regulating the metabolic stability of gp78.
Title: The ubiquitin specific protease USP34 protects the ubiquitin ligase gp78 from proteasomal degradation.
data indicate that USP34 is required for osteogenic differentiation and bone formation.
Title: Ubiquitin-specific protease USP34 controls osteogenic differentiation and bone formation by regulating BMP2 signaling.
USP34 may be a valuable marker for the assessment of patients with diffuse large Bcell lymphoma and further studies are needed to clarify USP34 expression on diffuse large Bcell lymphoma
Title: Expression and clinical significance of ubiquitin‑specific‑processing protease 34 in diffuse large B‑cell lymphoma.
the role of USP34 on epithelial-mesenchymal (EMT) induction and its effects on mammary epithelial stem cells, was investigated.
Title: Inhibition of ubiquitin-specific protease 34 (USP34) induces epithelial-mesenchymal transition and promotes stemness in mammary epithelial cells.
CONCLUSIONS: USP34 gene polymorphisms (rs17008097 and rs17008940) may not be associated with Polycystic ovary syndrome in the Han Chinese women.
Title: An association study between USP34 and polycystic ovary syndrome.
axin associates with ubiquitin-specific protease 34 (USP34); results indicate USP34 controls the levels of axin and positively modulate Wnt signaling by acting downstream of beta-catenin stabilization through controlling the nuclear accumulation of axin
Title: The ubiquitin-specific protease USP34 regulates axin stability and Wnt/β-catenin signaling.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-107752 (e-PCR)
- UniSTS:173868

RH68825 (e-PCR)
- UniSTS:27707

G32731 (e-PCR)
- UniSTS:117313

SGC31101 (e-PCR)
- UniSTS:74053

D2S2701 (e-PCR)
- UniSTS:23887

ECD12965 (e-PCR)
- UniSTS:293996

SHGC-34452 (e-PCR)
- UniSTS:17522

RH93011 (e-PCR)
- UniSTS:86132

A009P16 (e-PCR)
- UniSTS:40574

D2S337 (e-PCR), detects polymorphism
- UniSTS:57473

RH122613 (e-PCR)
- UniSTS:135058

RH45777 (e-PCR)
- UniSTS:61593

D1S2533 (e-PCR)
- UniSTS:154269

RH45746 (e-PCR)
- UniSTS:65954

RH68443 (e-PCR)
- UniSTS:82638

SHGC-44477 (e-PCR)
- UniSTS:1491

RH16395 (e-PCR)
- UniSTS:83163

RH68436 (e-PCR)
- UniSTS:24063

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
enables cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	TAS Traceable Author Statement more info
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	TAS Traceable Author Statement more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein stability	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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 34

Names: deubiquitinating enzyme 34; ubiquitin specific protease 34; ubiquitin thioesterase 34; ubiquitin thiolesterase 34; ubiquitin-specific-processing protease 34

NP_055524.3

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_014709.4 → NP_055524.3 ubiquitin carboxyl-terminal hydrolase 34

See identical proteins and their annotated locations for NP_055524.3

Status: VALIDATED

Source sequence(s)

AB011142, AC016727, AC016894, AC018889, AK023171, AW293998, BX473680

Consensus CDS

CCDS42686.1

UniProtKB/Swiss-Prot

A8MWD0, B3KWU9, O60316, O94834, Q3B777, Q6P6C9, Q70CQ2, Q7L8P6, Q8N3T9, Q8TBW2, Q9UGA1

Related

ENSP00000381577.2, ENST00000398571.7

Conserved Domains (2) summary

cd02659
Location:1892 → 2241

peptidase_C19C; 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 ...

pfam00443
Location:1894 → 2236

UCH; Ubiquitin carboxyl-terminal hydrolase