USP5 ubiquitin specific peptidase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP5provided by HGNC
Official Full Name: ubiquitin specific peptidase 5provided by HGNC
Primary source: HGNC:HGNC:12628
See related: Ensembl:ENSG00000111667 MIM:601447; AllianceGenome:HGNC:12628
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: ISOT
Summary: Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]
Expression: Ubiquitous expression in testis (RPKM 36.2), brain (RPKM 33.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (6852150..6866632)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (6861449..6875929)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (6961314..6975796)

Chromosome 12 - NC_000012.12 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?

USP5 negatively regulates the activation of NLRP3 inflammasomes and participates in the pathological and physiological processes of Sjogren's syndrome.
Title: USP5 negatively regulates the activation of NLRP3 inflammasomes and participates in the pathological and physiological processes of Sjogren's syndrome.
The deubiquitinase USP5 promotes cholangiocarcinoma progression by stabilizing YBX1.
Title: The deubiquitinase USP5 promotes cholangiocarcinoma progression by stabilizing YBX1.
Ubiquitin-specific protease 5 promotes bladder cancer progression through stabilizing Twist1.
Title: Ubiquitin-specific protease 5 promotes bladder cancer progression through stabilizing Twist1.
USP5: Comprehensive insights into structure, function, biological and disease-related implications, and emerging therapeutic opportunities.
Title: USP5: Comprehensive insights into structure, function, biological and disease-related implications, and emerging therapeutic opportunities.
PFKP deubiquitination and stabilization by USP5 activate aerobic glycolysis to promote triple-negative breast cancer progression.
Title: PFKP deubiquitination and stabilization by USP5 activate aerobic glycolysis to promote triple-negative breast cancer progression.
DEPDC1B-mediated USP5 deubiquitination of beta-catenin promotes breast cancer metastasis by activating the wnt/beta-catenin pathway.
Title: DEPDC1B-mediated USP5 deubiquitination of β-catenin promotes breast cancer metastasis by activating the wnt/β-catenin pathway.
USP5 promotes lipopolysaccharide-induced apoptosis and inflammatory response by stabilizing the TXNIP protein.
Title: USP5 promotes lipopolysaccharide-induced apoptosis and inflammatory response by stabilizing the TXNIP protein.
Kawasaki disease: ubiquitin-specific protease 5 promotes endothelial inflammation via TNFalpha-mediated signaling.
Title: Kawasaki disease: ubiquitin-specific protease 5 promotes endothelial inflammation via TNFα-mediated signaling.
A pan-cancer analysis of the role of USP5 in human cancers.
Title: A pan-cancer analysis of the role of USP5 in human cancers.
Role of ubiquitin-specific protease 5 in the inflammatory response of chronic periodontitis.
Title: Role of ubiquitin-specific protease 5 in the inflammatory response of chronic periodontitis.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

RH78311 (e-PCR)
- UniSTS:13570

RH48309 (e-PCR)
- UniSTS:4369

SHGC-32489 (e-PCR)
- UniSTS:41029

MARC_3767-3768:991937568:3 (e-PCR)
- UniSTS:231055

MARC_7181-7182:996687603:1 (e-PCR)
- UniSTS:269724

USP5__5052 (e-PCR)
- UniSTS:463344

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type 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 deubiquitinase activity	TAS Traceable Author Statement more info
enables cysteine-type endopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K48-linked deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	TAS Traceable Author Statement more info
involved_in protein ubiquitination	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
involved_in regulation protein catabolic process at presynapse	IEA Inferred from Electronic Annotation 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
located_in lysosome	TAS Traceable Author Statement more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 5

Names: deubiquitinating enzyme 5; isopeptidase T; testicular tissue protein Li 218; ubiquitin isopeptidase T; ubiquitin specific protease 5 (isopeptidase T); ubiquitin thioesterase 5; ubiquitin thiolesterase 5; ubiquitin-specific protease-5 (ubiquitin isopeptidase T); ubiquitin-specific-processing protease 5

NP_001092006.1

EC 3.4.19.12

NP_001369517.1

EC 3.4.19.12

NP_001369518.1

EC 3.4.19.12

NP_001369519.1

EC 3.4.19.12

NP_001369520.1

EC 3.4.19.12

NP_003472.2

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_001098536.2 → NP_001092006.1 ubiquitin carboxyl-terminal hydrolase 5 isoform 1

See identical proteins and their annotated locations for NP_001092006.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC005139, U47927

Consensus CDS

CCDS41743.1

UniProtKB/Swiss-Prot

D3DUS7, D3DUS8, P45974, Q96J22

UniProtKB/TrEMBL

A0A140VJZ1

Related

ENSP00000229268.8, ENST00000229268.13

Conserved Domains (2) summary

COG5207
Location:18 → 855

UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]

cd02658
Location:327 → 854

Peptidase_C19B; 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 ...
NM_001382588.1 → NP_001369517.1 ubiquitin carboxyl-terminal hydrolase 5 isoform 3

Status: VALIDATED

Source sequence(s)

U47924

Conserved Domains (3) summary

COG5207
Location:42 → 813

UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]

cd02658
Location:285 → 812

Peptidase_C19B; 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 ...

pfam17807
Location:16 → 41

zf-UBP_var; Variant UBP zinc finger
NM_001382589.1 → NP_001369518.1 ubiquitin carboxyl-terminal hydrolase 5 isoform 4

Status: VALIDATED

Source sequence(s)

U47924

Conserved Domains (3) summary

COG5207
Location:42 → 790

UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]

cd02658
Location:285 → 789

Peptidase_C19B; 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 ...

pfam17807
Location:16 → 41

zf-UBP_var; Variant UBP zinc finger
NM_001382590.1 → NP_001369519.1 ubiquitin carboxyl-terminal hydrolase 5 isoform 5

Status: VALIDATED

Source sequence(s)

U47924

Conserved Domains (3) summary

COG5207
Location:38 → 786

UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]

cd02658
Location:281 → 785

Peptidase_C19B; 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 ...

pfam17807
Location:1 → 33

zf-UBP_var; Variant UBP zinc finger
NM_001382591.1 → NP_001369520.1 ubiquitin carboxyl-terminal hydrolase 5 isoform 6

Status: VALIDATED

Source sequence(s)

U47924

Conserved Domains (1) summary

COG5207
Location:18 → 831

UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]
NM_003481.3 → NP_003472.2 ubiquitin carboxyl-terminal hydrolase 5 isoform 2

See identical proteins and their annotated locations for NP_003472.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AI289395, BC004889

Consensus CDS

CCDS31733.1

UniProtKB/Swiss-Prot

P45974

Related

ENSP00000373883.5, ENST00000389231.9

Conserved Domains (2) summary

COG5207
Location:18 → 832

UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]

cd02658
Location:327 → 831

Peptidase_C19B; 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 ...