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Aliases for USP18 Gene

Aliases for USP18 Gene

  • Ubiquitin Specific Peptidase 18 2 3 5
  • ISG15-Specific-Processing Protease 3 4
  • Ubiquitin Specific Protease 18 2 3
  • 43 KDa ISG15-Specific Protease 3 4
  • Ubl Thioesterase 18 3 4
  • HUBP43 3 4
  • ISG43 3 4
  • Ubl Carboxyl-Terminal Hydrolase 18 3
  • Ubl Thiolesterase 18 3
  • EC 3.1.2.15 61
  • EC 3.4.19.- 4
  • PTORCH2 3
  • UBP43 3

External Ids for USP18 Gene

Previous GeneCards Identifiers for USP18 Gene

  • GC22P015573
  • GC22P017007
  • GC22P018632
  • GC22P002445

Summaries for USP18 Gene

Entrez Gene Summary for USP18 Gene

  • The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]

GeneCards Summary for USP18 Gene

USP18 (Ubiquitin Specific Peptidase 18) is a Protein Coding gene. Diseases associated with USP18 include Band-Like Calcification With Simplified Gyration And Polymicrogyria and Chromosome 22Q11.2 Microduplication Syndrome. Among its related pathways are Immune response IFN alpha/beta signaling pathway and Interferon gamma signaling. GO annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP41.

UniProtKB/Swiss-Prot for USP18 Gene

  • Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms.

  • Isoform 2: Has enzymatic activity similar to isoform 1 and interferes with type I interferon signaling. Major deISGylation enzyme for nuclear proteins (PubMed:22170061).

Gene Wiki entry for USP18 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP18 Gene

Genomics for USP18 Gene

Regulatory Elements for USP18 Gene

Enhancers for USP18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G018066 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -81.0 -80962 5.5 HDGF FOXA2 CBX3 NFIB ARID4B RELB IKZF2 MCM3 GATAD2B PPARG MICAL3 ENSG00000093100 USP18 GC22P018073 LOC105372853
GH22G018060 1.4 Ensembl ENCODE dbSUPER 11 -87.8 -87789 3.8 TBP PKNOX1 ARID4B RARA YY1 ZNF366 RELB ETV6 IKZF2 EGR2 MICAL3 ENSG00000093100 TUBA8 USP18 BID LOC105372853 GC22P018073
GH22G018075 1.3 ENCODE dbSUPER 11.1 -72.0 -72034 4.4 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SP3 TUBA8 MICAL3 ENSG00000093100 USP18 BID GC22M018075 GC22P018073
GH22G017884 0.8 ENCODE dbSUPER 10.3 -264.7 -264715 1.5 PBX2 MAX HNF4A RAD21 ATF2 MICAL3 ENSG00000093100 USP18 PIR51874 PIR41738 GC22M017948
GH22G018064 0.5 dbSUPER 11 -84.8 -84801 1.4 CTCF ZNF512 NFE2 RAD21 MICAL3 ENSG00000093100 USP18 LOC105372853 GC22P018073
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around USP18 on UCSC Golden Path with GeneCards custom track

Promoters for USP18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143639 301 1601 DMAP1 ZNF48 YY1 SP3 SP5 YY2 PPARG SMARCA4 MXD3 GLIS1

Genomic Location for USP18 Gene

Chromosome:
22
Start:
18,149,899 bp from pter
End:
18,177,397 bp from pter
Size:
27,499 bases
Orientation:
Plus strand

Genomic View for USP18 Gene

Genes around USP18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP18 Gene

Proteins for USP18 Gene

  • Protein details for USP18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMW8-UBP18_HUMAN
    Recommended name:
    Ubl carboxyl-terminal hydrolase 18
    Protein Accession:
    Q9UMW8
    Secondary Accessions:
    • Q53Y90
    • Q6IAD9
    • Q9NY71

    Protein attributes for USP18 Gene

    Size:
    372 amino acids
    Molecular mass:
    43011 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for USP18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP18 Gene

Selected DME Specific Peptides for USP18 Gene

Q9UMW8:
  • VDGKWFCFNDS
  • LLLLEKMQDSRQKA
  • ILKRITVPR

Post-translational modifications for USP18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USP18 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for USP18 Gene

Gene Families for USP18 Gene

Protein Domains for USP18 Gene

Suggested Antigen Peptide Sequences for USP18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMW8

UniProtKB/Swiss-Prot:

UBP18_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP18: view

Function for USP18 Gene

Molecular function for USP18 Gene

GENATLAS Biochemistry:
ubiquitin specific protease 18,deubiquitin enzyme family
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:
Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms.
UniProtKB/Swiss-Prot Function:
Isoform 2: Has enzymatic activity similar to isoform 1 and interferes with type I interferon signaling. Major deISGylation enzyme for nuclear proteins (PubMed:22170061).

Enzyme Numbers (IUBMB) for USP18 Gene

Gene Ontology (GO) - Molecular Function for USP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS 10777664
GO:0005515 protein binding IPI 16189514
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP18: view
genes like me logo Genes that share phenotypes with USP18: view

Animal Models for USP18 Gene

MGI Knock Outs for USP18:

Animal Model Products

CRISPR Products

miRNA for USP18 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for USP18

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP18 Gene

Localization for USP18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP18 Gene

Isoform 1: Cytoplasm.
Isoform 2: Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP18 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for USP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with USP18: view

Pathways & Interactions for USP18 Gene

genes like me logo Genes that share pathways with USP18: view

Gene Ontology (GO) - Biological Process for USP18 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 TAS --
GO:0060338 regulation of type I interferon-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with USP18: view

No data available for SIGNOR curated interactions for USP18 Gene

Drugs & Compounds for USP18 Gene

No Compound Related Data Available

Transcripts for USP18 Gene

mRNA/cDNA for USP18 Gene

Unigene Clusters for USP18 Gene

Ubiquitin specific peptidase 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for USP18

Alternative Splicing Database (ASD) splice patterns (SP) for USP18 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2:
SP3:

Relevant External Links for USP18 Gene

GeneLoc Exon Structure for
USP18
ECgene alternative splicing isoforms for
USP18

Expression for USP18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for USP18 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP18 Gene



NURSA nuclear receptor signaling pathways regulating expression of USP18 Gene:

USP18

SOURCE GeneReport for Unigene cluster for USP18 Gene:

Hs.38260

Evidence on tissue expression from TISSUES for USP18 Gene

  • Nervous system(4.4)
  • Liver(2.3)
genes like me logo Genes that share expression patterns with USP18: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP18 Gene

Orthologs for USP18 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP18 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia USP18 34
  • 84.68 (n)
-- 35
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia USP18 34 35
  • 81.3 (n)
rat
(Rattus norvegicus)
Mammalia Usp18 34
  • 78.8 (n)
mouse
(Mus musculus)
Mammalia Usp18 34 16 35
  • 77.69 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves USP18 34
  • 60.84 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia usp18 34
  • 50.49 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334535 34
  • 46.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ubp64E 35
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T05H10.1 35
  • 7 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP15 35
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 7 (a)
OneToMany
Species where no ortholog for USP18 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USP18 Gene

ENSEMBL:
Gene Tree for USP18 (if available)
TreeFam:
Gene Tree for USP18 (if available)

Paralogs for USP18 Gene

Paralogs for USP18 Gene

(2) SIMAP similar genes for USP18 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with USP18: view

Variants for USP18 Gene

Sequence variations from dbSNP and Humsavar for USP18 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000236794 -- 18,172,201(+) AGTTA(A/C)CAAAA intron-variant
rs1000453986 -- 18,162,255(+) AAAAC(A/G)TGTTC intron-variant
rs1000586643 -- 18,168,166(+) GAGGG(A/G)CTGCA intron-variant
rs1000612879 -- 18,167,750(+) CTTAT(C/T)ACAGT intron-variant
rs1000655590 -- 18,151,349(+) TTGTA(C/T)TTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP18 Gene

Variant ID Type Subtype PubMed ID
dgv1283e212 CNV gain 25503493
dgv173e55 CNV gain 17911159
dgv4466n100 CNV gain+loss 25217958
dgv4467n100 CNV gain 25217958
dgv99e203 CNV gain+loss 21179565
esv22247 CNV gain+loss 19812545
esv2751935 CNV loss 17911159
esv2758824 CNV gain+loss 17122850
esv32687 CNV gain+loss 17666407
esv3331783 CNV duplication 20981092
esv3575418 CNV gain 25503493
esv3893430 CNV gain 25118596
nsv1055756 CNV gain 25217958
nsv1058565 CNV gain 25217958
nsv1061694 CNV gain 25217958
nsv428385 CNV gain+loss 18775914
nsv469560 CNV gain 16826518
nsv471339 CNV gain 19718026
nsv471594 CNV gain+loss 15918152
nsv514961 CNV gain 21397061
nsv516997 CNV gain+loss 19592680
nsv962754 CNV duplication 23825009

Variation tolerance for USP18 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP18 Gene

Human Gene Mutation Database (HGMD)
USP18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP18 Gene

Disorders for USP18 Gene

MalaCards: The human disease database

(3) MalaCards diseases for USP18 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
band-like calcification with simplified gyration and polymicrogyria
  • pseudo-torch syndrome 1
chromosome 22q11.2 microduplication syndrome
  • chromosome 22q11.2 duplication syndrome
aicardi-goutieres syndrome
  • cree encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search USP18 in MalaCards View complete list of genes associated with diseases

Relevant External Links for USP18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP18
genes like me logo Genes that share disorders with USP18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP18 Gene

Publications for USP18 Gene

  1. Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (Usp18). (PMID: 10777664) Schwer H. … Hetherington C.J. (Genomics 2000) 3 4 22 64
  2. Two independent mechanisms promote expression of an N-terminal truncated USP18 isoform with higher DeISGylation activity in the nucleus. (PMID: 22170061) Burkart C. … Zhang D.E. (J. Biol. Chem. 2012) 3 4 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3 64

Products for USP18 Gene

  • Addgene plasmids for USP18

Sources for USP18 Gene

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