ENSG00000273820


Homo sapiens

Features
Gene ID: ENSG00000273820
  
Biological name :USP27X
  
Synonyms : A6NNY8 / ubiquitin specific peptidase 27, X-linked / USP27X
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p11.23
Gene start: 49879948
Gene end: 49882565
  
Corresponding Affymetrix probe sets: 217605_at (Human Genome U133 Plus 2.0 Array)   230620_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483631
NCBI entrez gene - 389856     See in Manteia.
OMIM - 300975
RefSeq - NM_001145073
RefSeq Peptide - NP_001138545
swissprot - A6NNY8
Ensembl - ENSG00000273820
  
Related genetic diseases (OMIM): 300984 - Mental retardation, X-linked 105, 300984
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 usp22ENSDARG00000040407Danio rerio
 ENSGALG00000029817Gallus gallus
 Q8CEG8ENSMUSG00000046269Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
USP22 / Q9UPT9 / ubiquitin specific peptidase 22ENSG0000012442280
USP51 / Q70EK9 / ubiquitin specific peptidase 51ENSG0000024774672
USP44 / Q9H0E7 / ubiquitin specific peptidase 44ENSG0000013601431
USP49 / Q70CQ1 / ubiquitin specific peptidase 49ENSG0000016466330
USP3 / Q9Y6I4 / ubiquitin specific peptidase 3ENSG0000014045527
Q6R6M4 / USP17L2 / ubiquitin specific peptidase 17-like family member 2ENSG0000022344324
C9J2P7 / USP17L15 / ubiquitin specific peptidase 17-like family member 15ENSG0000022356924
A8MUK1 / USP17L5 / ubiquitin specific peptidase 17-like family member 5ENSG0000022714024
C9JPN9 / USP17L12 / ubiquitin specific peptidase 17-like family member 12ENSG0000022755124
Q0WX57 / USP17L30 / ubiquitin specific peptidase 17-like family member 30ENSG0000022885624
Q0WX57 / USP17L26 / ubiquitin specific peptidase 17-like family member 26ENSG0000022957924
Q0WX57 / USP17L25 / ubiquitin specific peptidase 17-like family member 25ENSG0000023043024
Q0WX57 / USP17L28 / ubiquitin specific peptidase 17-like family member 28ENSG0000023105124
Q0WX57 / USP17L29 / ubiquitin specific peptidase 17-like family member 29ENSG0000023163724
Q0WX57 / USP17L24 / ubiquitin specific peptidase 17-like family member 24ENSG0000023226424
C9JLJ4 / USP17L13 / ubiquitin specific peptidase 17-like family member 13ENSG0000023239924
C9JVI0 / USP17L11 / ubiquitin specific peptidase 17-like family member 11ENSG0000023313624
Q0WX57 / USP17L27 / ubiquitin specific peptidase 17-like family member 27ENSG0000023578024
D6RCP7 / USP17L19 / ubiquitin specific peptidase 17-like family member 19ENSG0000024892024
D6RA61 / USP17L22 / ubiquitin specific peptidase 17-like family member 22ENSG0000024893324


Protein motifs (from Interpro)
Interpro ID Name
 IPR001394  Peptidase C19, ubiquitin carboxyl-terminal hydrolase
 IPR018200  Ubiquitin specific protease, conserved site
 IPR028889  Ubiquitin specific protease domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0016579 protein deubiquitination ISS
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0050821 protein stabilization IEA
 biological_processGO:0070536 protein K63-linked deubiquitination IEA
 biological_processGO:0071108 protein K48-linked deubiquitination IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA
 molecular_functionGO:0061578 Lys63-specific deubiquitinase activity IEA
 molecular_functionGO:1990380 Lys48-specific deubiquitinase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000708 Behavioural/Psychiatric Abnormality 
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 HP:0001249 Mental retardation 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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