USP27X - ubiquitin specific peptidase 27 X-linked Gene

Also Known as USP27; MRX105; USP22L; XLID105

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 389856

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 Verweise Source
enables cysteine-type endopeptidase activity IDA
IDA: Inferred from direct assay
31534008 GOA
Biological Process GO Annotation Evidence Verweise 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

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

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS15537 USP27X Human Pre-designed siRNA Set A Pre-designed Set / 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