Human Gene USP27X (uc004dop.3)
  Description: Homo sapiens ubiquitin specific peptidase 27, X-linked (USP27X), mRNA.
RefSeq Summary (NM_001145073): 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]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments.
Transcript (Including UTRs)
   Position: hg19 chrX:49,644,470-49,647,168 Size: 2,699 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chrX:49,644,911-49,646,227 Size: 1,317 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:49,644,470-49,647,168)mRNA (may differ from genome)Protein (438 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UBP27_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin carboxyl-terminal hydrolase 27; EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 27; AltName: Full=Ubiquitin carboxyl-terminal hydrolase 22-like; AltName: Full=Ubiquitin thioesterase 27; AltName: Full=Ubiquitin-specific-processing protease 27; AltName: Full=X-linked ubiquitin carboxyl-terminal hydrolase 27;
CATALYTIC ACTIVITY: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
SIMILARITY: Belongs to the peptidase C19 family.
CAUTION: Although strongly related to USP22, which deubiquitinates histones, lacks the N-terminal UBP-type zinc finger, suggesting it does not have the ability to deubiquitinate histones.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: USP27X
Diseases sorted by gene-association score: mental retardation 105* (1200), x-linked non-specific intellectual disability* (101)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -190.93441-0.433 Picture PostScript Text
3' UTR -246.60941-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018200 - Pept_C19ubi-hydrolase_C_CS
IPR001394 - Peptidase_C19

Pfam Domains:
PF00443 - Ubiquitin carboxyl-terminal hydrolase
PF13423 - Ubiquitin carboxyl-terminal hydrolase

SCOP Domains:
54001 - Cysteine proteinases

ModBase Predicted Comparative 3D Structure on A6NNY8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004843 thiol-dependent ubiquitin-specific protease activity
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity
GO:0061578 Lys63-specific deubiquitinase activity
GO:1990380 Lys48-specific deubiquitinase activity

Biological Process:
GO:0006508 proteolysis
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016579 protein deubiquitination
GO:0043065 positive regulation of apoptotic process
GO:0050821 protein stabilization
GO:0070536 protein K63-linked deubiquitination
GO:0071108 protein K48-linked deubiquitination

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AY672104 - Homo sapiens USP22L mRNA, partial sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NNY8, NM_001145073, NP_001138545, UBP27_HUMAN, USP22L, USP27
UCSC ID: uc004dop.3
RefSeq Accession: NM_001145073
Protein: A6NNY8 (aka UBP27_HUMAN)
CCDS: CCDS65260.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001145073.1
exon count: 1CDS single in 3' UTR: no RNA size: 2714
ORF size: 1317CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2604.00frame shift in genome: no % Coverage: 99.45
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.