USP27X ubiquitin specific peptidase 27 X-linked [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP27Xprovided by HGNC
Official Full Name: ubiquitin specific peptidase 27 X-linkedprovided by HGNC
Primary source: HGNC:HGNC:13486
See related: Ensembl:ENSG00000273820 MIM:300975; AllianceGenome:HGNC:13486
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: USP27; MRX105; USP22L; XLID105
Summary: This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (49879484..49882558)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (49195374..49198448)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (49644087..49647162)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Title: USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Phosphorylation of USP27X by GSK3beta maintains the stability and oncogenic functions of CBX2.
Title: Phosphorylation of USP27X by GSK3β maintains the stability and oncogenic functions of CBX2.
The deubiquitinase Usp27x as a novel regulator of cFLIPL protein expression and sensitizer to death-receptor-induced apoptosis.
Title: The deubiquitinase Usp27x as a novel regulator of cFLIP(L) protein expression and sensitizer to death-receptor-induced apoptosis.
Stabilization of SETD3 by deubiquitinase USP27 enhances cell proliferation and hepatocellular carcinoma progression.
Title: Stabilization of SETD3 by deubiquitinase USP27 enhances cell proliferation and hepatocellular carcinoma progression.
The USP27X is a novel regulator of theCyclic GMP-AMP synthase (cGAS)-STING cytosolic DNA sensing pathway.
Title: Cutting Edge: USP27X Deubiquitinates and Stabilizes the DNA Sensor cGAS to Regulate Cytosolic DNA-Mediated Signaling.
these studies uncover a novel negative regulatory role of USP27X in targeting RIG-I to balance innate immune responses.
Title: USP27X negatively regulates antiviral signaling by deubiquitinating RIG-I.
High USP27X expression is associated with Chemoresistance in breast cancer by Stabilization of Snail1.
Title: TGFβ-Activated USP27X Deubiquitinase Regulates Cell Migration and Chemoresistance via Stabilization of Snail1.
Data found that USP27 promotes Cyclin E stability by negatively regulating its ubiquitination and regulates its abundance to accelerate cell cycle progression, cell proliferation, and hepatocellular carcinoma cell growth as well.
Title: USP27-mediated Cyclin E stabilization drives cell cycle progression and hepatocellular tumorigenesis.
Usp27x can trigger via its proteolytic activity the deubiquitination of Bim and enhance its levels, counteracting the anti-apoptotic effects of ERK activity, and therefore acts as a tumour suppressor.
Title: The deubiquitinase Usp27x stabilizes the BH3-only protein Bim and enhances apoptosis.
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.

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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

Associated conditions

Description	Tests
Intellectual disability, X-linked 105 MedGen: C4310816 OMIM: 300984 GeneReviews: Not available	Compare labs

Variation

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K48-linked deubiquitinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables K63-linked deubiquitinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables cysteine-type deubiquitinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type I interferon-mediated 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 K48-linked deubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein K63-linked deubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein deubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 27

Names: X-linked ubiquitin carboxyl-terminal hydrolase 27; deubiquitinating enzyme 27; ubiquitin specific protease 27, X chromosome; ubiquitin thioesterase 27; ubiquitin-specific-processing protease 27

NP_001138545.1

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_053124.1 RefSeqGene

Range

4618..7692

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145073.3 → NP_001138545.1 ubiquitin carboxyl-terminal hydrolase 27

See identical proteins and their annotated locations for NP_001138545.1

Status: REVIEWED

Source sequence(s)

AC236430

Consensus CDS

CCDS65260.1

UniProtKB/Swiss-Prot

A6NNY8

Related

ENSP00000483631.1, ENST00000621775.2

Conserved Domains (1) summary

cd02660
Location:78 → 419

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 ...