Entity Details

Primary name USP27X
Entity type gene
Source Source Link

Details

PrimaryID389856
RefseqGeneNG_053124
SymbolUSP27X
Nameubiquitin specific peptidase 27 X-linked
ChromosomeX
LocationXp11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUBP27_HUMAN

GO terms

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GOName
GO:0004843 thiol-dependent deubiquitinase
GO:0005634 nucleus
GO:0005829 cytosol
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016579 protein deubiquitination
GO:0043065 positive regulation of apoptotic process
GO:0050821 protein stabilization
GO:0061578 Lys63-specific deubiquitinase activity
GO:0070536 protein K63-linked deubiquitination
GO:0071108 protein K48-linked deubiquitination
GO:1990380 Lys48-specific deubiquitinase activity

Diseases

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Disease IDSourceNameDescription
300984 OMIMMental retardation, X-linked 105 (MRX105)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry.