1. Gene
  2. USP27X - ubiquitin specific peptidase 27 X-linked Gene

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

USP27X Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (78 - 418)

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  • 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

Orthologs Information

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