USP51 ubiquitin specific peptidase 51 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP51provided by HGNC
Official Full Name: ubiquitin specific peptidase 51provided by HGNC
Primary source: HGNC:HGNC:23086
See related: Ensembl:ENSG00000247746 AllianceGenome:HGNC:23086
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 chromatin binding activity; deubiquitinase activity; and histone binding activity. Involved in DNA repair-dependent chromatin remodeling; regulation of cell cycle process; and regulation of double-strand break repair. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in thyroid (RPKM 4.9), ovary (RPKM 3.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (55484616..55489848, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (54776519..54781751)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (55511049..55516281, complement)

Chromosome X - NC_000023.11 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 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?

USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A.
Title: USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A.
USP51 promotes non-small cell lung carcinoma cell stemness by deubiquitinating TWIST1.
Title: USP51 promotes non-small cell lung carcinoma cell stemness by deubiquitinating TWIST1.
The role of USP51 in attenuating chemosensitivity of lung cancer cells to cisplatin by regulating DNA damage response.
Title: The role of USP51 in attenuating chemosensitivity of lung cancer cells to cisplatin by regulating DNA damage response.
CDK4/6 inhibition blocks cancer metastasis through a USP51-ZEB1-dependent deubiquitination mechanism.
Title: CDK4/6 inhibition blocks cancer metastasis through a USP51-ZEB1-dependent deubiquitination mechanism.
ATXN7L3 and ENY2 orchestrate activities of multiple deubiquitinating enzymes, including USP27x and USP51, and that imbalances in these activities likely potentiate human diseases including cancer.
Title: ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth.
USP51 is the deubiquitylating enzyme for H2AK13,15ub and regulates DNA damage response
Title: USP51 deubiquitylates H2AK13,15ub and regulates DNA damage response.

Submit: New GeneRIF Correction

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
Genome-wide association study of smoking behaviours among Bangladeshi adults. 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

RH36391 (e-PCR)
- UniSTS:19724

DXS1302 (e-PCR)
- UniSTS:99375

NoName (e-PCR)
- UniSTS:486506

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H2A deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone 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 DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA repair-dependent chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 51

Names: deubiquitinating enzyme 51; ubiquitin thioesterase 51; ubiquitin thiolesterase 51; ubiquitin-specific-processing protease 51

NP_958443.1

EC 3.4.19.12

XP_016884789.1

EC 3.4.19.12

XP_016884790.1

EC 3.4.19.12

XP_047297826.1

EC 3.4.19.12

XP_054182529.1

EC 3.4.19.12

XP_054182530.1

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.

Genomic

NG_021371.1 RefSeqGene

Range

4351..9583

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_201286.4 → NP_958443.1 ubiquitin carboxyl-terminal hydrolase 51

See identical proteins and their annotated locations for NP_958443.1

Status: VALIDATED

Source sequence(s)

AL590410

Consensus CDS

CCDS14370.1

UniProtKB/Swiss-Prot

Q70EK9, Q8IWJ8

Related

ENSP00000423333.2, ENST00000500968.4

Conserved Domains (3) summary

cd02660
Location:363 → 704

Peptidase_C19D; 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:362 → 703

UCH; Ubiquitin carboxyl-terminal hydrolase

pfam02148
Location:236 → 296

zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

55484616..55489848 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029301.2 → XP_016884790.1 ubiquitin carboxyl-terminal hydrolase 51 isoform X1

UniProtKB/Swiss-Prot

Q70EK9, Q8IWJ8

Conserved Domains (3) summary

cd02660
Location:363 → 704

Peptidase_C19D; 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:362 → 703

UCH; Ubiquitin carboxyl-terminal hydrolase

pfam02148
Location:236 → 296

zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
XM_017029300.2 → XP_016884789.1 ubiquitin carboxyl-terminal hydrolase 51 isoform X1

UniProtKB/Swiss-Prot

Q70EK9, Q8IWJ8

Conserved Domains (3) summary

cd02660
Location:363 → 704

Peptidase_C19D; 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:362 → 703

UCH; Ubiquitin carboxyl-terminal hydrolase

pfam02148
Location:236 → 296

zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
XM_047441870.1 → XP_047297826.1 ubiquitin carboxyl-terminal hydrolase 51 isoform X1

UniProtKB/Swiss-Prot

Q70EK9, Q8IWJ8

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

54776519..54781751

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326554.1 → XP_054182529.1 ubiquitin carboxyl-terminal hydrolase 51 isoform X1

UniProtKB/Swiss-Prot

Q70EK9, Q8IWJ8
XM_054326555.1 → XP_054182530.1 ubiquitin carboxyl-terminal hydrolase 51 isoform X1

UniProtKB/Swiss-Prot

Q70EK9, Q8IWJ8