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Aliases for USP27X Gene

Aliases for USP27X Gene

  • Ubiquitin Specific Peptidase 27, X-Linked 2 3 5
  • X-Linked Ubiquitin Carboxyl-Terminal Hydrolase 27 3 4
  • Ubiquitin Specific Protease 27, X Chromosome 2 3
  • Ubiquitin-Specific-Processing Protease 27 3 4
  • Deubiquitinating Enzyme 27 3 4
  • Ubiquitin Thioesterase 27 3 4
  • USP22L 3 4
  • USP27 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 22-Like 4
  • Ubiquitin Specific Protease 27, X-Linked 2
  • Ubiquitin Carboxyl-Terminal Hydrolase 27 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 61
  • MRX105 3

External Ids for USP27X Gene

Previous GeneCards Identifiers for USP27X Gene

  • GC0XU900508
  • GC0XP049348
  • GC0XP049531
  • GC0XP049646
  • GC0XP047113

Summaries for USP27X Gene

Entrez Gene Summary for USP27X 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 mental retardation. [provided by RefSeq, Dec 2016]

GeneCards Summary for USP27X Gene

USP27X (Ubiquitin Specific Peptidase 27, X-Linked) is a Protein Coding gene. Diseases associated with USP27X include Mental Retardation, X-Linked 105 and Non-Syndromic X-Linked Intellectual Disability. GO annotations related to this gene include cysteine-type peptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP22.

UniProtKB/Swiss-Prot for USP27X Gene

  • Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP27X Gene

Genomics for USP27X Gene

Regulatory Elements for USP27X Gene


Promoters for USP27X Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246581 -467 2001 HDGF ZFP64 SIN3A DMAP1 ZNF48 ZNF143 FOS SP3 SP5 CTCF

Genomic Location for USP27X Gene

Chromosome:
X
Start:
49,879,867 bp from pter
End:
49,882,565 bp from pter
Size:
2,699 bases
Orientation:
Plus strand

Genomic View for USP27X Gene

Genes around USP27X on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP27X Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP27X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP27X Gene

Proteins for USP27X Gene

  • Protein details for USP27X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NNY8-UBP27_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 27
    Protein Accession:
    A6NNY8

    Protein attributes for USP27X Gene

    Size:
    438 amino acids
    Molecular mass:
    49630 Da
    Quaternary structure:
    • Interacts with phosphorylated BCL2L11 isoform BIMEL; this interaction leads to BCL2L11 deubiquitination and stabilization.

neXtProt entry for USP27X Gene

Selected DME Specific Peptides for USP27X Gene

A6NNY8:
  • TIGLRGL
  • SYQESTKQ
  • CNCIIDQIFTG
  • FTRPEHLGSSAKIKC
  • QQDAHEF
  • DQWFKCDDA
  • VSTTIDP
  • HARHLAGY
  • TCFMNCIVQAL
  • NLGNTCF
  • GNTCFMN

Post-translational modifications for USP27X Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USP27X Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for USP27X Gene

Gene Families for USP27X Gene

Protein Domains for USP27X Gene

Suggested Antigen Peptide Sequences for USP27X Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NNY8

UniProtKB/Swiss-Prot:

UBP27_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP27X: view

Function for USP27X Gene

Molecular function for USP27X Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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).
UniProtKB/Swiss-Prot Function:
Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity.

Enzyme Numbers (IUBMB) for USP27X Gene

Gene Ontology (GO) - Molecular Function for USP27X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity ISS --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP27X: view
genes like me logo Genes that share phenotypes with USP27X: view

Human Phenotype Ontology for USP27X Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for USP27X Gene

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for USP27X Gene

Localization for USP27X Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP27X Gene

Cytoplasm, cytosol. Nucleus.

Gene Ontology (GO) - Cellular Components for USP27X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with USP27X: view

No data available for Subcellular locations from COMPARTMENTS for USP27X Gene

Pathways & Interactions for USP27X Gene

SuperPathways for USP27X Gene

No Data Available

Interacting Proteins for USP27X Gene

Selected Interacting proteins: A6NNY8-UBP27_HUMAN for USP27X Gene via IID

Gene Ontology (GO) - Biological Process for USP27X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016579 protein deubiquitination ISS --
GO:0043065 positive regulation of apoptotic process ISS --
GO:0050821 protein stabilization ISS --
genes like me logo Genes that share ontologies with USP27X: view

No data available for Pathways by source and SIGNOR curated interactions for USP27X Gene

Drugs & Compounds for USP27X Gene

No Compound Related Data Available

Transcripts for USP27X Gene

mRNA/cDNA for USP27X Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for USP27X Gene

Ubiquitin specific peptidase 27, X-linked:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP27X Gene

No ASD Table

Relevant External Links for USP27X Gene

GeneLoc Exon Structure for
USP27X
ECgene alternative splicing isoforms for
USP27X

Expression for USP27X Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for USP27X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for USP27X Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.1) and Brain - Cerebellum (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP27X Gene



NURSA nuclear receptor signaling pathways regulating expression of USP27X Gene:

USP27X

SOURCE GeneReport for Unigene cluster for USP27X Gene:

Hs.143587
genes like me logo Genes that share expression patterns with USP27X: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP27X Gene

Orthologs for USP27X Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP27X Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100614099 34
  • 98.74 (n)
cow
(Bos Taurus)
Mammalia USP27X 34
  • 94.14 (n)
dog
(Canis familiaris)
Mammalia LOC100686687 34
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Usp27x 34 16
  • 91.86 (n)
rat
(Rattus norvegicus)
Mammalia Usp27x 34
  • 91.25 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7153 34
thale cress
(Arabidopsis thaliana)
eudicotyledons UBP22 34
  • 47.3 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9273 34
Species where no ortholog for USP27X was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for USP27X Gene

ENSEMBL:
Gene Tree for USP27X (if available)
TreeFam:
Gene Tree for USP27X (if available)

Paralogs for USP27X Gene

Paralogs for USP27X Gene

(5) SIMAP similar genes for USP27X Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with USP27X: view

Variants for USP27X Gene

Sequence variations from dbSNP and Humsavar for USP27X Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_077830 Mental retardation, X-linked 105 (MRX105) [MIM:300984]
rs886038210 Pathogenic 49,881,330(+) GCCTC(-/AAGTA)AAGAG upstream-variant-2KB, reference, frameshift-variant
rs886038211 Pathogenic 49,881,448(+) GCCAC(C/T)ATACC reference, missense
rs879255359 Uncertain significance 49,880,468(+) AACCA(A/C)ACCAG upstream-variant-2KB, reference, missense
rs1000953971 -- 49,882,827(+) CTTTT(G/T)GAGGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for USP27X Gene

Variant ID Type Subtype PubMed ID
nsv6902 CNV insertion 18451855

Variation tolerance for USP27X Gene

Gene Damage Index Score: 0.24; 5.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP27X Gene

Human Gene Mutation Database (HGMD)
USP27X
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP27X

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP27X Gene

Disorders for USP27X Gene

MalaCards: The human disease database

(2) MalaCards diseases for USP27X Gene - From: ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 105
  • mrx105
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UBP27_HUMAN
  • Mental retardation, X-linked 105 (MRX105) [MIM:300984]: 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. {ECO:0000269 PubMed:25644381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for USP27X

Genetic Association Database (GAD)
USP27X
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP27X
genes like me logo Genes that share disorders with USP27X: view

No data available for Genatlas for USP27X Gene

Publications for USP27X Gene

  1. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3 4 64
  2. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. (PMID: 25644381) Hu H. … Kalscheuer V.M. (Mol. Psychiatry 2016) 3 4 64
  3. The deubiquitinase Usp27x stabilizes the BH3-only protein Bim and enhances apoptosis. (PMID: 27013495) Weber A. … HAocker G. (EMBO Rep. 2016) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Defining the human deubiquitinating enzyme interaction landscape. (PMID: 19615732) Sowa M.E. … Harper J.W. (Cell 2009) 3 64

Products for USP27X Gene

Sources for USP27X Gene

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