USP27X

Protein identityUniProt · HPA

UniProt accession

A6NNY8

Gene

USP27X

Ensembl

ENSG00000273820

Chromosome

X

Canonical length

438 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

438 residues, UniProt reviewed canonical sequence.

>A6NNY8|USP27X
     1  MCKDYVYDKD IEQIAKEEQG EALKLQASTS TEVSHQQCSV PGLGEKFPTW ETTKPELELL
    61  GHNPRRRRIT SSFTIGLRGL INLGNTCFMN CIVQALTHTP ILRDFFLSDR HRCEMPSPEL
   121  CLVCEMSSLF RELYSGNPSP HVPYKLLHLV WIHARHLAGY RQQDAHEFLI AALDVLHRHC
   181  KGDDVGKAAN NPNHCNCIID QIFTGGLQSD VTCQACHGVS TTIDPCWDIS LDLPGSCTSF
   241  WPMSPGRESS VNGESHIPGI TTLTDCLRRF TRPEHLGSSA KIKCGSCQSY QESTKQLTMN
   301  KLPVVACFHF KRFEHSAKQR RKITTYISFP LELDMTPFMA SSKESRMNGQ LQLPTNSGNN
   361  ENKYSLFAVV NHQGTLESGH YTSFIRHHKD QWFKCDDAVI TKASIKDVLD SEGYLLFYHK
   421  QVLEHESEKV KEMNTQAY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against USP27X can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about USP27X.

Disease | AllUniProt

Conditions USP27X is implicated in, by any mechanism.

• Intellectual developmental disorder, X-linked 105 (XLID105) MIM:300984

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 80 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, X-linked 105
• Intellectual disability
• Neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.36

gnomAD pLI

0.92

gnomAD missense Z

3.18

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• defense response to virus
• innate immune response
• positive regulation of apoptotic process
• positive regulation of type I interferon-mediated signaling pathway
• protein deubiquitination
• protein K48-linked deubiquitination
• protein K63-linked deubiquitination
• protein stabilization
• proteolysis

Molecular functions

• cysteine-type deubiquitinase activity
• cysteine-type endopeptidase activity
• K48-linked deubiquitinase activity
• K63-linked deubiquitinase activity

Cellular components

• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Peptidase C19, ubiquitin carboxyl-terminal hydrolase
• Ubiquitin specific protease, conserved site
• Ubiquitin specific protease UPS, catalytic domain
• Papain-like cysteine peptidase superfamily
• Ubiquitin carboxyl-terminal hydrolase
• Ubiquitin carboxyl-terminal hydrolase

KeywordsUniProt

• Cytoplasm
• Hydrolase
• Immunity
• Innate immunity
• Intellectual disability
• Nucleus
• Protease
• Thiol protease
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of USP27X in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• USP51