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USP8 (ubiquitin specific peptidase 8)

Identity

Alias_namesubiquitin specific protease 8
Alias_symbol (synonym)HumORF8
KIAA0055
UBPY
SPG59
Other aliasPITA4
HGNC (Hugo) USP8
LocusID (NCBI) 9101
Atlas_Id 42774
Location 15q21.2  [Link to chromosome band 15q21]
Location_base_pair Starts at 50424377 and ends at 50501083 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PXDNL (8q11.22) / USP8 (15q21.2)USP8 (15q21.2) / BDP1 (5q13.2)USP8 (15q21.2) / CCDC171 (9p22.3)
USP8 (15q21.2) / GALK2 (15q21.1)USP8 (15q21.2) / SLC27A2 (15q21.2)USP8 (15q21.2) / TRPM7 (15q21.2)
PXDNL 8q11.22 / USP8 15q21.2USP8 15q21.2 / BDP1 5q13.2USP8 15q21.2 C9orf93
USP8 15q21.2 / SLC27A2 15q21.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(5;15)(q13;q21) USP8/BDP1
t(8;15)(q11;q21) PXDNL/USP8
t(9;15)(p22;q21) USP8/CCDC171
USP8/SLC27A2 (15q21)

External links

Nomenclature
HGNC (Hugo)USP8   12631
Cards
Entrez_Gene (NCBI)USP8  9101  ubiquitin specific peptidase 8
AliasesHumORF8; PITA4; SPG59; UBPY
GeneCards (Weizmann)USP8
Ensembl hg19 (Hinxton)ENSG00000138592 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138592 [Gene_View]  ENSG00000138592 [Sequence]  chr15:50424377-50501083 [Contig_View]  USP8 [Vega]
ICGC DataPortalENSG00000138592
TCGA cBioPortalUSP8
AceView (NCBI)USP8
Genatlas (Paris)USP8
WikiGenes9101
SOURCE (Princeton)USP8
Genetics Home Reference (NIH)USP8
Genomic and cartography
GoldenPath hg38 (UCSC)USP8  -     chr15:50424377-50501083 +  15q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USP8  -     15q21.2   [Description]    (hg19-Feb_2009)
GoldenPathUSP8 - 15q21.2 [CytoView hg19]  USP8 - 15q21.2 [CytoView hg38]
ImmunoBaseENSG00000138592
Mapping of homologs : NCBIUSP8 [Mapview hg19]  USP8 [Mapview hg38]
OMIM219090   603158   
Gene and transcription
Genbank (Entrez)AA399951 AA399952 AA773713 AI276208 AK091775
RefSeq transcript (Entrez)NM_001128610 NM_001128611 NM_001283049 NM_005154
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)USP8
Cluster EST : UnigeneHs.443731 [ NCBI ]
CGAP (NCI)Hs.443731
Alternative Splicing GalleryENSG00000138592
Gene ExpressionUSP8 [ NCBI-GEO ]   USP8 [ EBI - ARRAY_EXPRESS ]   USP8 [ SEEK ]   USP8 [ MEM ]
Gene Expression Viewer (FireBrowse)USP8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9101
GTEX Portal (Tissue expression)USP8
Human Protein AtlasENSG00000138592-USP8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40818   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP40818  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP40818
Splice isoforms : SwissVarP40818
PhosPhoSitePlusP40818
Domaine pattern : Prosite (Expaxy)RHODANESE_3 (PS50206)    USP_1 (PS00972)    USP_2 (PS00973)    USP_3 (PS50235)   
Domains : Interpro (EBI)Peptidase_C19_UCH    Rhodanese-like_dom    Rhodanese-like_dom_sf    USP8_dimer    USP_CS    USP_dom   
Domain families : Pfam (Sanger)Rhodanese (PF00581)    UCH (PF00443)    USP8_dimer (PF08969)   
Domain families : Pfam (NCBI)pfam00581    pfam00443    pfam08969   
Conserved Domain (NCBI)USP8
DMDM Disease mutations9101
Blocks (Seattle)USP8
PDB (RSDB)1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
PDB Europe1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
PDB (PDBSum)1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
PDB (IMB)1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
Structural Biology KnowledgeBase1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
SCOP (Structural Classification of Proteins)1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
CATH (Classification of proteins structures)1WHB    2A9U    2GFO    2GWF    3N3K    6F09   
SuperfamilyP40818
Human Protein Atlas [tissue]ENSG00000138592-USP8 [tissue]
Peptide AtlasP40818
HPRD04405
IPIIPI00030915   IPI00941811   IPI00872245   IPI00952731   
Protein Interaction databases
DIP (DOE-UCLA)P40818
IntAct (EBI)P40818
FunCoupENSG00000138592
BioGRIDUSP8
STRING (EMBL)USP8
ZODIACUSP8
Ontologies - Pathways
QuickGOP40818
Ontology : AmiGOmitotic cytokinesis  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  protein binding  nucleus  cytoplasm  early endosome  cytosol  cytosol  cytosol  ubiquitin-dependent protein catabolic process  endosome organization  endosome organization  Ras protein signal transduction  postsynaptic density  protein deubiquitination  protein deubiquitination  protein deubiquitination  SH3 domain binding  extrinsic component of plasma membrane  extrinsic component of plasma membrane  midbody  midbody  extrinsic component of endosome membrane  regulation of protein stability  regulation of protein localization  dendritic spine  cadherin binding  protein K63-linked deubiquitination  protein K63-linked deubiquitination  protein K48-linked deubiquitination  protein K48-linked deubiquitination  cellular response to dexamethasone stimulus  positive regulation of canonical Wnt signaling pathway  glutamatergic synapse  regulation of protein catabolic process at postsynapse, modulating synaptic transmission  cellular response to nerve growth factor stimulus  
Ontology : EGO-EBImitotic cytokinesis  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  protein binding  nucleus  cytoplasm  early endosome  cytosol  cytosol  cytosol  ubiquitin-dependent protein catabolic process  endosome organization  endosome organization  Ras protein signal transduction  postsynaptic density  protein deubiquitination  protein deubiquitination  protein deubiquitination  SH3 domain binding  extrinsic component of plasma membrane  extrinsic component of plasma membrane  midbody  midbody  extrinsic component of endosome membrane  regulation of protein stability  regulation of protein localization  dendritic spine  cadherin binding  protein K63-linked deubiquitination  protein K63-linked deubiquitination  protein K48-linked deubiquitination  protein K48-linked deubiquitination  cellular response to dexamethasone stimulus  positive regulation of canonical Wnt signaling pathway  glutamatergic synapse  regulation of protein catabolic process at postsynapse, modulating synaptic transmission  cellular response to nerve growth factor stimulus  
Pathways : KEGGEndocytosis   
NDEx NetworkUSP8
Atlas of Cancer Signalling NetworkUSP8
Wikipedia pathwaysUSP8
Orthology - Evolution
OrthoDB9101
GeneTree (enSembl)ENSG00000138592
Phylogenetic Trees/Animal Genes : TreeFamUSP8
HOGENOMP40818
Homologs : HomoloGeneUSP8
Homology/Alignments : Family Browser (UCSC)USP8
Gene fusions - Rearrangements
Fusion : MitelmanPXDNL/USP8 [8q11.22/15q21.2]  [t(8;15)(q11;q21)]  
Fusion : MitelmanUSP8/BDP1 [15q21.2/5q13.2]  [t(5;15)(q13;q21)]  
Fusion : MitelmanUSP8/CCDC171 [15q21.2/9p22.3]  [t(9;15)(p22;q21)]  
Fusion : MitelmanUSP8/SLC27A2 [15q21.2/15q21.2]  [t(15;15)(q21;q21)]  
Fusion PortalPXDNL 8q11.22 USP8 15q21.2 SKCM
Fusion PortalUSP8 15q21.2 BDP1 5q13.2 SKCM
Fusion PortalUSP8 15q21.2 C9orf93 BRCA
Fusion PortalUSP8 15q21.2 SLC27A2 15q21.2 BRCA
Fusion : QuiverUSP8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSP8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USP8
dbVarUSP8
ClinVarUSP8
1000_GenomesUSP8 
Exome Variant ServerUSP8
ExAC (Exome Aggregation Consortium)ENSG00000138592
GNOMAD BrowserENSG00000138592
Varsome BrowserUSP8
Genetic variants : HAPMAP9101
Genomic Variants (DGV)USP8 [DGVbeta]
DECIPHERUSP8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUSP8 
Mutations
ICGC Data PortalUSP8 
TCGA Data PortalUSP8 
Broad Tumor PortalUSP8
OASIS PortalUSP8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSP8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUSP8
Mutations and Diseases : HGMDUSP8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch USP8
DgiDB (Drug Gene Interaction Database)USP8
DoCM (Curated mutations)USP8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USP8 (select a term)
intoGenUSP8
Cancer3DUSP8(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM219090    603158   
Orphanet22830    12827   
DisGeNETUSP8
MedgenUSP8
Genetic Testing Registry USP8
NextProtP40818 [Medical]
TSGene9101
GENETestsUSP8
Target ValidationUSP8
Huge Navigator USP8 [HugePedia]
snp3D : Map Gene to Disease9101
BioCentury BCIQUSP8
ClinGenUSP8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9101
Chemical/Pharm GKB GenePA37256
Clinical trialUSP8
Miscellaneous
canSAR (ICR)USP8 (select the gene name)
DataMed IndexUSP8
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSP8
EVEXUSP8
GoPubMedUSP8
iHOPUSP8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:14:42 CET 2019
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