USP27X - ubiquitin specific peptidase 27 X-linked Gene

Homo sapiens

Also known as USP27; MRX105; USP22L; XLID105

Gene ID: 389856 | Gene type: protein coding

About USP27X

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,879,484-49,882,558 (from NCBI)

This gene has 1 transcript (splice variant), 78 orthologues, 71 paralogues and is associated with 3 phenotypes.

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]

USP27X Products(1)

mRNA	Protein	Name
NM_001145073.3	NP_001138545.1	ubiquitin carboxyl-terminal hydrolase 27

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables cysteine-type endopeptidase activity	IDA IDA: Inferred from direct assay	31534008	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in defense response to virus	IMP IMP: Inferred from mutant phenotype	31534008	GOA
involved in positive regulation of type I interferon-mediated signaling pathway	IDA IDA: Inferred from direct assay	31534008	GOA
involved in protein K48-linked deubiquitination	IDA IDA: Inferred from direct assay	31534008	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	31534008	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP27X Protein Structure

UCH

0
100
200
300
400
438 a.a.

Protein Preferred Names

Protein Names

ubiquitin carboxyl-terminal hydrolase 27

X-linked ubiquitin carboxyl-terminal hydrolase 27

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 105

XLID105	Mrx105
Mental Retardation, X-Linked 105	Mental Retardation, X-Linked, Type 105

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 99

Mrx99

X-Linked Mental Retardation 99

Torch Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15537	USP27X Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	USP27X	MGD	MGI:1859645
Bos taurus	USP27X	VGNC	VGNC:56956
Rattus norvegicus	USP27X	RGD	RGD:1564628
Others	USP27X	NCBI

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