Free for academic non-profit institutions. Other users need a Commercial license

Aliases for USP6 Gene

Aliases for USP6 Gene

  • Ubiquitin Specific Peptidase 6 2 3 5
  • Ubiquitin Specific Peptidase 6 (Tre-2 Oncogene) 2 3
  • Ubiquitin Specific Protease 6 (Tre-2 Oncogene) 2 3
  • Ubiquitin-Specific-Processing Protease 6 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 6 2 3
  • Deubiquitinating Enzyme 6 3 4
  • Ubiquitin Thioesterase 6 3 4
  • TBC1D3 And USP32 Fusion 2 3
  • Proto-Oncogene TRE-2 3 4
  • HRP1 3 4
  • TRE2 3 4
  • TRE Oncogene, Smith Magenis Syndrome Chromosome Region 2
  • Ubiquitin-Specific Protease USP6 3
  • Ubiquitin Thiolesterase 6 3
  • Hyperpolymorphic Gene 1 3
  • Tre-2 Oncogene 2
  • EC 3.4.19.12 4
  • EC 3.1.2.15 58
  • USP6-Short 3
  • TRESMCR 3
  • TRE17 3
  • Tre-2 3

External Ids for USP6 Gene

Previous HGNC Symbols for USP6 Gene

  • HRP1
  • TRESMCR

Previous GeneCards Identifiers for USP6 Gene

  • GC17P005451
  • GC17P005369
  • GC17P004976
  • GC17P005232
  • GC17P004972
  • GC17P004921
  • GC17P005019

Summaries for USP6 Gene

GeneCards Summary for USP6 Gene

USP6 (Ubiquitin Specific Peptidase 6) is a Protein Coding gene. Diseases associated with USP6 include Pseudosarcomatous Fibromatosis and Fasciitis. Among its related pathways are Arf6 signaling events and Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include nucleic acid binding and cysteine-type endopeptidase activity. An important paralog of this gene is USP32.

UniProtKB/Swiss-Prot for USP6 Gene

  • Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation.

Gene Wiki entry for USP6 Gene

Additional gene information for USP6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP6 Gene

Genomics for USP6 Gene

Regulatory Elements for USP6 Gene

Enhancers for USP6 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
GH17H005508 0.9 FANTOM5 ENCODE 39 +393.2 393176 1 MXI1 RFX1 POLR2A MYNN MAX FOS BMI1 RFX5 USP6 RABEP1 MIS12 SCIMP NUP88 LOC101928044 LOC728392
GH17H005220 1.6 Ensembl ENCODE dbSUPER 10.4 +112.0 112037 15 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B YBX1 ZNF143 ZNF207 ATF7 RABEP1 ENSG00000263164 LOC101928000 SCIMP USP6 CAMTA2 NUP88 ENSG00000262165 ZFP3 NLRP1
GH17H004937 1.4 ENCODE dbSUPER 10.1 -171.4 -171421 14 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 ZNF610 ZNF585B SPAG7 CHRNE LOC100130950 CAMTA2 RPAIN ZNF232 ENO3 ANKFY1 ZNF594 LOC105371506
GH17H005209 1.2 Ensembl ENCODE dbSUPER 10.6 +94.5 94521 2 ZNF687 MAX NSD2 EBF1 ZNF592 POLR2A TARDBP IKZF1 ZNF24 CUX1 RABEP1 ENSG00000263164 USP6 PELP1 CAMTA2 SCIMP RPS12P29 PIR60028 LOC100130950
GH17H005199 1 ENCODE dbSUPER 10.5 +84.1 84052 2 MAZ TBL1XR1 NR2F1 MNT EBF1 RELA ZNF217 GATA3 NBN CUX1 CAMTA2 USP6 SCIMP ENSG00000263164 CHRNE KIF1C LOC100130950 PIR60028
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around USP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for USP6 Gene

Chromosome:
17
Start:
5,116,438 bp from pter
End:
5,175,034 bp from pter
Size:
58,597 bases
Orientation:
Plus strand

Genomic View for USP6 Gene

Genes around USP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP6 Gene

Proteins for USP6 Gene

  • Protein details for USP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35125-UBP6_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 6
    Protein Accession:
    P35125
    Secondary Accessions:
    • Q15634
    • Q86WP6
    • Q8IWT4

    Protein attributes for USP6 Gene

    Size:
    1406 amino acids
    Molecular mass:
    158658 Da
    Quaternary structure:
    • Interacts with RAC1 and CDC42. Interacts (via Rab-GAP TBC domain) with ARF6. Interacts with calmodulin (CALM1, CALM2 and/or CALM3); the interaction is calcium-dependent.
    Miscellaneous:
    • The USP6 gene only exists in the primate lineage.

    Alternative splice isoforms for USP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP6 Gene

Selected DME Specific Peptides for USP6 Gene

P35125:
  • FLLDGLH
  • GNTCFMN
  • QQQDSQELL
  • DGLHEDLN
  • NLGNTCF
  • LIIHLKR

Post-translational modifications for USP6 Gene

  • Monubiquitinated; ubiquitination is calmodulin and calcium dependent.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for USP6 Gene

Gene Families for USP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for USP6 Gene

Graphical View of Domain Structure for InterPro Entry

P35125

UniProtKB/Swiss-Prot:

UBP6_HUMAN :
  • The Rab-GAP TBC domain lacks GTPase activator activity but is necessary for interaction with ARF6.
  • Belongs to the peptidase C19 family.
Domain:
  • The Rab-GAP TBC domain lacks GTPase activator activity but is necessary for interaction with ARF6.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP6: view

Function for USP6 Gene

Molecular function for USP6 Gene

GENATLAS Biochemistry:
ubiquitin specific protease 6,hyperpolymorphic gene 1,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:
Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation.

Enzyme Numbers (IUBMB) for USP6 Gene

Phenotypes From GWAS Catalog for USP6 Gene

Gene Ontology (GO) - Molecular Function for USP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding TAS 1565468
GO:0004197 cysteine-type endopeptidase activity TAS 9827704
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 16127172
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 12612085
genes like me logo Genes that share ontologies with USP6: view
genes like me logo Genes that share phenotypes with USP6: view

Animal Model Products

CRISPR Products

miRNA for USP6 Gene

miRTarBase miRNAs that target USP6

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for USP6 Gene

Localization for USP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP6 Gene

Cell membrane. Cytoplasm. Endosome. Note=Localizes to the plasma membrane and to filamentous structures within the cell corresponding to ARF6 regulated tubular endosomes. Activation of RAC1 and CDC42 can direct the relocalization of USP6 to the plasma membrane in a manner that depends on the integrity of the actin cytoskeleton.

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 USP6 gene
Compartment Confidence
plasma membrane 5
lysosome 5
endosome 5
nucleus 3
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for USP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12612085
GO:0005764 lysosome TAS 9827704
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IDA,IEA 12612085
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with USP6: view

Pathways & Interactions for USP6 Gene

genes like me logo Genes that share pathways with USP6: view

Pathways by source for USP6 Gene

1 BioSystems pathway for USP6 Gene
1 Qiagen pathway for USP6 Gene

SIGNOR curated interactions for USP6 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for USP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process NAS 9827704
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006886 intracellular protein transport IBA --
GO:0016579 protein deubiquitination IDA 16127172
genes like me logo Genes that share ontologies with USP6: view

Drugs & Compounds for USP6 Gene

(1) Drugs for USP6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with USP6: view

Transcripts for USP6 Gene

Unigene Clusters for USP6 Gene

Ubiquitin specific peptidase 6 (Tre-2 oncogene):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP6 Gene

No ASD Table

Relevant External Links for USP6 Gene

GeneLoc Exon Structure for
USP6
ECgene alternative splicing isoforms for
USP6

Expression for USP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for USP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for USP6 Gene

This gene is overexpressed in Muscle - Skeletal (x17.6) and Testis (x10.9).

Protein differential expression in normal tissues from HIPED for USP6 Gene

This gene is overexpressed in Neutrophil (35.5) and Pancreatic juice (33.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP6 Gene



Protein tissue co-expression partners for USP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of USP6 Gene:

USP6

SOURCE GeneReport for Unigene cluster for USP6 Gene:

Hs.448851

mRNA Expression by UniProt/SwissProt for USP6 Gene:

P35125-UBP6_HUMAN
Tissue specificity: Testis specific. Expressed in various cancer cell lines.
genes like me logo Genes that share expression patterns with USP6: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP6 Gene

Orthologs for USP6 Gene

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

Orthologs for USP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP6 33 34
  • 98.77 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 56 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Usp32 34
  • 56 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11864 33
zebrafish
(Danio rerio)
Actinopterygii usp32 34
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8334 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H34C03.2 35
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP12 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for USP6 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 USP6 Gene

ENSEMBL:
Gene Tree for USP6 (if available)
TreeFam:
Gene Tree for USP6 (if available)

Paralogs for USP6 Gene

Variants for USP6 Gene

Sequence variations from dbSNP and Humsavar for USP6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000079134 -- 5,157,724(+) CTCCC(A/C)GGTTC intron-variant
rs1000102971 -- 5,115,688(+) AAATT(C/T)CGTTT intron-variant, upstream-variant-2KB
rs1000107274 -- 5,120,735(+) AGGAC(A/C)AGAAA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000132860 -- 5,157,331(+) TCTGC(C/T)CGCCT intron-variant
rs1000164948 -- 5,118,270(+) GCTCA(A/G)CCTCT intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for USP6 Gene

Variant ID Type Subtype PubMed ID
esv25210 CNV gain 19812545
esv3639806 CNV loss 21293372
nsv1131294 CNV deletion 24896259
nsv574273 CNV gain 21841781
nsv960045 CNV duplication 23825009

Variation tolerance for USP6 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.91; 97.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP6 Gene

Human Gene Mutation Database (HGMD)
USP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP6 Gene

Disorders for USP6 Gene

MalaCards: The human disease database

(12) MalaCards diseases for USP6 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pseudosarcomatous fibromatosis
  • fasciitis - nodular
fasciitis
myositis ossificans
  • myisitis ossificans
aneurysmal bone cysts
  • aneurysmal bone cyst
sciatic neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search USP6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBP6_HUMAN
  • Note=A chromosomal aberration involving USP6 is a common genetic feature of aneurysmal bone cyst, a benign osseous neoplasm. Translocation t(16;17)(q22;p13) with CDH11. The translocation generates a fusion gene in which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional up-regulation (PubMed:15026324). {ECO:0000269 PubMed:15026324}.

Relevant External Links for USP6

Genetic Association Database (GAD)
USP6
Human Genome Epidemiology (HuGE) Navigator
USP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP6
genes like me logo Genes that share disorders with USP6: view

No data available for Genatlas for USP6 Gene

Publications for USP6 Gene

  1. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. (PMID: 15026324) Oliveira AM … Fletcher JA (Cancer research 2004) 3 4 22 60
  2. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PMID: 12604796) Paulding CA … Haber DA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 60
  3. Expression in a RabGAP yeast mutant of two human homologues, one of which is an oncogene. (PMID: 14521938) Bizimungu C … Vandenbol M (Biochemical and biophysical research communications 2003) 3 4 22 60
  4. TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-kappaB. (PMID: 20418905) Ye Y … Chou MM (Oncogene 2010) 3 4 60
  5. Calcium/calmodulin regulates ubiquitination of the ubiquitin-specific protease TRE17/USP6. (PMID: 16127172) Shen C … Chou MM (The Journal of biological chemistry 2005) 3 4 60

Products for USP6 Gene

Sources for USP6 Gene

Content
Loading form....