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USP8 Gene

protein-coding   GIFtS: 68
GCID: GC15P050716

Ubiquitin Specific Peptidase 8

(Previous name: ubiquitin specific protease 8)
  See USP8-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin Specific Peptidase 81 2     Ubiquitin Carboxyl-Terminal Hydrolase 82
Deubiquitinating Enzyme 82 3     Ubiquitin Thiolesterase 82
Ubiquitin Isopeptidase Y2 3     EC 3.4.19.123
Ubiquitin-Specific-Processing Protease 82 3     KIAA00553
UBPY2 3     hUBPy3
Ubiquitin Specific Protease 81     Ubiquitin Thioesterase 83
HumORF82     HUMORF85
SPG592     EC 3.1.2.158

External Ids:    HGNC: 126311   Entrez Gene: 91012   Ensembl: ENSG000001385927   OMIM: 6031585   UniProtKB: P408183   

Export aliases for USP8 gene to outside databases

Previous GC identifers: GC15P046273 GC15P043762 GC15P048295 GC15P048432 GC15P048503 GC15P027548


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for USP8 Gene:
This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The
encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this
organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is
required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the
Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate
splicing results in multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for USP8 Gene:
USP8 (ubiquitin specific peptidase 8) is a protein-coding gene. Diseases associated with USP8 include autosomal recessive spastic paraplegia type 59. GO annotations related to this gene include cysteine-type endopeptidase activity and SH3 domain binding. An important paralog of this gene is USP3.

UniProtKB/Swiss-Prot: UBP8_HUMAN, P40818
Function: Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory
role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked
ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to
enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the
formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1.
Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of
ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology
of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin
from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through
interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1

Gene Wiki entry for USP8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP8 gene promoter:
         C/EBPbeta   Elk-1   AML1a   ATF-2   p300   Lmo2   C/EBPalpha   CREB   FAC1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP8 promoter sequence
   Search Chromatin IP Primers for USP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.2   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21.1

USP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP8 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P050716:  view genomic region     (about GC identifiers)

Start:
50,716,577 bp from pter      End:
50,793,280 bp from pter
Size:
76,704 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UBP8_HUMAN, P40818 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 8  
Size: 1118 amino acids; 127523 Da
Subunit: Forms a ternary complex with RNF128 and OTUB1. Interacts (via C-terminal UCH catalytic domain) with OTUB1
isoform 1. Interacts with STAM2 (via SH3 domain). Interacts with DNAJB3, EGFR, EPS15, RASGRF1, RNF41, YWHAE,
YWHAG and YWHAZ (By similarity). Interacts with NBR1, RASGRF1, RNF41 and IST1. Associates with the ESCRT-0
complex and with microtubules (By similarity). Interacts with BIRC6/bruce and KIF23/MKLP1
Sequence caution: Sequence=AAH38801.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH51345.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
5 PDB 3D structures from and Proteopedia for USP8:
1WHB (3D)        2A9U (3D)        2GFO (3D)        2GWF (3D)        3N3K (3D)    
Secondary accessions: Q2TB31 Q7Z3U2 Q86VA0 Q8IWI7

Explore the universe of human proteins at neXtProt for USP8: NX_P40818

Explore proteomics data for USP8 at MOPED

Post-translational modifications: 

  • Phosphorylation of Ser-718 is essential for interaction with YWHAE and for cytosol localization (By similarity).
    Undergoes dephosphorylation at Ser-718 in the M phase (By similarity). Tyrosine-phosphorylated in its N-terminal
    half in an EGFR-dependent manner (By similarity)1
  • Ubiquitinated. Inactive form is mostly monoubiquitinated, but polyubiquitination happens too. Ubiquitination is
    increased in EGF-stimulated cells. Ubiquitination of active form is undetectable, suggesting a possibility that
    USP8 deubiquitinates itself, thereby regulating its own function (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for USP8 (P40818)
     FMYLSLPL  DGLHEDLN  NLGNTCYMN 


    See USP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001122082.1  NP_001269978.1  NP_005145.3  

    ENSEMBL proteins: 
     ENSP00000453206   ENSP00000302239   ENSP00000379721   ENSP00000412682   ENSP00000454003  
     ENSP00000452950   ENSP00000453427   ENSP00000457345   ENSP00000454059   ENSP00000453320  
     ENSP00000453460   ENSP00000405537  
    Reactome Protein details: P40818

    USP8 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for USP8
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    GenScript Custom Purified and Recombinant Proteins Services for USP8
    Novus Biologicals USP8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP8

     
    Search eBioscience for Proteins for USP8 

     
    Search antibodies-online for proteins for USP8 

     
    antibodies-online peptides for USP8

    USP8 Antibody Products:

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    antibodies-online antibodies for USP8 (46 products) 

    USP8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP8
    Cloud-Clone Corp. CLIAs for USP8
    Search eBioscience for ELISAs for USP8 
    antibodies-online kits for USP8 (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    USP: Ubiquitin-specific peptidases

    5 InterPro protein domains:
     IPR001763 Rhodanese-like_dom
     IPR001394 Peptidase_C19_UCH
     IPR015063 USP8_dimer
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR028889 UCH/PAN2

    Graphical View of Domain Structure for InterPro Entry P40818

    ProtoNet protein and cluster: P40818

    3 Blocks protein domains:
    IPB001394 Ubiquitin thiolesterase
    IPB001448 Small acid-soluble spore protein
    IPB001763 Rhodanese-like


    UniProtKB/Swiss-Prot: UBP8_HUMAN, P40818
    Domain: The MIT domain is required for endosomal localization, CHMP1B-binding, maintenance of ESCRT-0 stability
    and EGFR degradation
    Domain: The rhodanese domain is sufficent for RNF41-binding (By similarity)
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 1 MIT domain
    Similarity: Contains 1 rhodanese domain
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP8_HUMAN, P40818
    Function: Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory
    role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked
    ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to
    enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the
    formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1.
    Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of
    ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology
    of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin
    from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through
    interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1
    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)
    Induction: Upon growth stimulation in starved human fibroblasts. Decreases in response to growth arrest induced by
    cell-cell contact

         Genatlas biochemistry entry for USP8:
    ubiquitin specific protease 8,similar to the tre oncogene,with homology to ubiquitin carboxy-terminal
    hydrolase,deubiquitin enzyme family

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity TAS9827704
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0004843ubiquitin-specific protease activity IDA16520378
    GO:0005515protein binding IPI17711858
    GO:0008234cysteine-type peptidase activity ----
         
    Find genes that share ontologies with USP8           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for USP8:
     Decreased Salmonella enterica   Decreased homologous recombina  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 
     Upregulation of NF-kappaB path 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Usp8):
     cardiovascular system  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     liver/biliary system  mortality/aging 

    Find genes that share phenotypes with USP8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Usp8tm1.2Kpk for USP8

       genOway: Develop your customized and physiologically relevant rodent model for USP8

    miRNA
    Products:
        
    miRTarBase miRNAs that target USP8:
    hsa-mir-16-5p (MIRT051165), hsa-mir-183-5p (MIRT047051), hsa-mir-374a-5p (MIRT044017), hsa-mir-125b-5p (MIRT046085)

    Block miRNA regulation of human, mouse, rat USP8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP8 (see all 49):
    hsa-miR-2052 hsa-miR-3194-5p hsa-miR-19b-2* hsa-miR-301a hsa-miR-3921 hsa-miR-155 hsa-miR-130b hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidUSP8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for USP8
    Predesigned siRNA for gene silencing in human, mouse, rat USP8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for USP8

    Clone
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    OriGene clones in human, mouse for USP8 (see all 14)
    OriGene ORF clones in mouse, rat for USP8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: USP8 (NM_004420)
    Sino Biological Human cDNA Clone for USP8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP8
    Addgene plasmids for USP8 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for USP8 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP8

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12112) for USP8 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UBP8_HUMAN, P40818: Cytoplasm. Nucleus (By similarity). Endosome membrane; Peripheral membrane protein. Cell
    membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    plasma membrane5
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA18388320
    GO:0005769early endosome IDA16520378

    Find genes that share ontologies with USP8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for USP8 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signaling by ERBB20.89
    Downregulation of ERBB2-ERBB3 signaling0.00
    2Signaling by GPCR
    Signal Transduction0.58
    3Translation Insulin regulation of translation
    ErbB2/ErbB3 signaling events0.31
    4Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    5Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors


    Find genes that share SuperPaths with USP8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP8
        Ubiquitin-Proteasome Dependent Proteolysis

    2 Cell Signaling Technology (CST) Pathways for USP8
        Tyrosine Kinases / Adaptors
    Protein Stability

    2 BioSystems Pathways for USP8
        ErbB2/ErbB3 signaling events
    Internalization of ErbB1


    2 Reactome Pathways for USP8
        regulation of FZD by ubiquitination
    Downregulation of ERBB2:ERBB3 signaling


    1 Kegg Pathway  (Kegg details for USP8):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP8
    Interactions:

        GeneGlobe Interaction Network for USP8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for USP8 (P408181, 2, 3 ENSP000003022394) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NBR1Q145961, 2, 3, ENSP000003434794EBI-1050865,EBI-742698 MINT-7034470 MINT-7034233 MINT-7034452 I2D: score=1 STRING: ENSP00000343479
    CHMP1AQ9HD421, 2, 3, ENSP000002534754EBI-1050865,EBI-1057156 MINT-6946783 I2D: score=3 STRING: ENSP00000253475
    CHMP1BQ7LBR11, 2, 3EBI-1050865,EBI-2118090 MINT-6946799 I2D: score=3 
    YWHAGP619812, 3, ENSP000003063304MINT-50884 I2D: score=4 STRING: ENSP00000306330
    YWHABP319462, 3, ENSP000003001614MINT-50951 I2D: score=3 STRING: ENSP00000300161
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000281mitotic cytokinesis IMP18388320
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007032endosome organization IMP16520378
    GO:0007265Ras protein signal transduction IEA--
    GO:0008283cell proliferation TAS9628861

    Find genes that share ontologies with USP8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USP8 (UBP8)

    1 HMDB Compound for USP8    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for USP8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 26.7 1 14646586 (1)



    Find genes that share compounds with USP8           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for USP8 gene (4 alternative transcripts): 
    NM_001128610.2  NM_001283049.1  NM_005154.4  NM_001128611.1  

    Unigene Cluster for USP8:

    Ubiquitin specific peptidase 8
    Hs.443731  [show with all ESTs]
    Unigene Representative Sequence: NM_001128611
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000560297 ENST00000560954 ENST00000307179(uc001zyk.1 uc010bev.1)
    ENST00000396444(uc001zyl.4 uc001zyn.4 uc010ufh.2 uc001zyp.4)
    ENST00000425032 ENST00000558892 ENST00000560885 ENST00000559329 ENST00000560730
    ENST00000560982 ENST00000561211 ENST00000558091 ENST00000559242 ENST00000561330
    ENST00000560527 ENST00000561206 ENST00000419830 ENST00000560379
    miRNA
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    hsa-miR-2052 hsa-miR-3194-5p hsa-miR-19b-2* hsa-miR-301a hsa-miR-3921 hsa-miR-155 hsa-miR-130b hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidUSP8 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: USP8 (NM_004420)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP8
    Addgene plasmids for USP8 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for USP8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP8
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      QuantiFast Probe-based Assays in human, mouse, rat USP8
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12112) for USP8 

    Additional mRNA sequence: 

    AK090830.1 AK292400.1 AK296480.1 AK300590.1 BC015545.1 BC026954.1 BC038801.1 BC051345.1 
    BC062694.1 BC092443.1 BC110590.2 BX537420.1 D29956.1 

    17 DOTS entries:

    DT.101983565  DT.117668  DT.444526  DT.121045161  DT.95276438  DT.95276444  DT.121045139  DT.102841822 
    DT.95290024  DT.92437210  DT.100795148  DT.121045147  DT.121045187  DT.121045207  DT.121310784  DT.95276440 
    DT.95276443 

    Selected AceView cDNA sequences (see all 277):

    AW630194 CB243018 AA773713 AI222503 AW503369 BF435143 BQ424717 BM126331 
    AA149437 AI479489 BP335689 AI952505 BQ425745 BU789750 AA236062 BQ943006 
    AA446489 AI498649 BI256314 BP379003 BC051345 BG562497 AW299898 AI973154 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP8 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                          -     -                                                                                                     -                     
    SP2:                                -                                                                                                     -                     
    SP3:                          -     -                       -                                                                                                   
    SP4:                                                                                                                                                            
    SP5:                                                        -     -     -     -     -                                                                           

    ExUns: 21a · 21b ^ 22a · 22b · 22c
    SP1:  -                           
    SP2:  -                           
    SP3:                              
    SP4:  -                           
    SP5:                              


    ECgene alternative splicing isoforms for USP8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    USP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATATAGCCT
    USP8 Expression
    About this image

    USP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443731
        Custom PCR Arrays for USP8
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for USP8 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp81 , 5 ubiquitin specific peptidase 81, 5 84.63(n)1
    84.63(a)1
      2 (61.76 cM)5
    840921  NM_001252580.11  NP_001239509.11 
     1267073285 
    chicken
    (Gallus gallus)
    Aves USP81 ubiquitin specific peptidase 8 76.17(n)
    75.39(a)
      415451  XM_003641853.2  XP_003641901.2 
    lizard
    (Anolis carolinensis)
    Reptilia USP86
    ubiquitin specific peptidase 8
    70(a)
    1 ↔ 1
    GL343747.1(63295-117187)
    African clawed frog
    (Xenopus laevis)
    Amphibia usp8-prov2 ubiquitin specific protease 8 75.61(n)    BC043910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii usp81 ubiquitin specific peptidase 8 59.13(n)
    61.3(a)
      565434  XM_688719.6  XP_693811.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57983
    Ubpy1
    protein deubiquitination
    ubiquitin-specific protease3
    UBPY ortholog1
    44(a)3
    46.67(n)1
    38.87(a)1
      93C13
    425091  NM_142691.21  NP_650948.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y59A8B.23
    E01B7.11
    E01B7.11 32(a)3
    42.84(n)1
    32.52(a)1
      V(17932247-17936641)3
    1801751  NM_075112.41  NP_507513.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DOA4(YDR069C)4 Ubiquitin isopeptidase, required for recycling ubiquitin more   --   4(587719-584939) 851641  NP_010354.1 


    ENSEMBL Gene Tree for USP8 (if available)
    TreeFam Gene Tree for USP8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP8 gene
    USP32  USP442  USP212  USP492  USP22  USP502  
    7 SIMAP similar genes for USP8 using alignment to 10 protein entries:     UBP8_HUMAN (see all proteins):
    USP15    USP11    USP2    USP50    USP3    USP10
    DKFZp761E10121

    Find genes that share paralogs with USP8           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for USP8 (see all 8)
    PGOHUM00000240382 PGOHUM00000262007 PGOHUM00000261979 PGOHUM00000261983 PGOHUM00000261975


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for USP8 (see all 1674)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs71824071,2
    C,F,A,H--50714679(+) CAGGCG/ATGAAC 3 -- us2k14Minor allele frequency- A:0.50NA 8
    rs284797921,2
    C,F--50714720(+) GTCATG/CTTTTC 3 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1931886251,2
    C--50714910(+) AGAAAA/TTACTG 3 -- us2k10--------
    rs1449988461,2
    --50714914(+) AATACC/TGCTGT 3 -- us2k10--------
    rs1170308801,2
    C,F--50714952(+) ATTCTA/GTGGAA 3 -- us2k11Minor allele frequency- G:0.04NA 120
    rs1149436931,2
    C,F--50715095(+) CTCAGC/TCTCCT 3 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1505133951,2
    C--50715168(+) ACCAGC/GTTTTG 3 -- us2k10--------
    rs1833347851,2
    --50715172(+) GGTTTA/TGCCAT 3 -- us2k10--------
    rs1393887491,2
    --50715271(+) GCTCCC/TGGTCT 3 -- us2k10--------
    rs1995890651,2
    C--50715411(+) TGCAA-/CCTGGC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for USP8 (50716577 - 50793280 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for USP8 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv994715CNV Deletion20482838
    esv2749684CNV Deletion23290073
    esv2749682CNV Deletion23290073
    esv1047910CNV Deletion17803354
    esv2416237CNV Deletion18987734
    esv2677885CNV Deletion23128226
    esv2749683CNV Deletion23290073
    esv1049679CNV Deletion17803354
    esv2749681CNV Deletion23290073
    nsv904210CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603158    OMIM disorders: --

    1 disease for USP8:    
    About MalaCards
    autosomal recessive spastic paraplegia type 59


    Find genes that share disorders with USP8           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: USP8 (1 document)

    Export disorders for USP8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for USP8 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with USP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Amino-terminal dimerization, NRDP1-rhodanese interaction, and inhibited catalytic domain conformation of the ubiquitin-specific protease 8 (USP8). (PubMed id 17035239)1, 2, 9 Avvakumov G.V.... Dhe-Paganon S. (J. Biol. Chem. 2006)
    2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)1, 3 Novarino G....Gleeson J.G. (Science 2014)
    3. Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover. (PubMed id 19427866)1, 2 Waters S.... Gautel M. (FEBS Lett. 2009)
    4. Final stages of cytokinesis and midbody ring formation are controlled by BRUCE. (PubMed id 18329369)1, 2 Pohl C. and Jentsch S. (Cell 2008)
    5. The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation. (PubMed id 17711858)1, 2 Row P.E.... Urbe S. (J. Biol. Chem. 2007)
    6. The ubiquitin isopeptidase UBPY regulates endosomal ubiquitin dynamics and is essential for receptor down-regulation. (PubMed id 16520378)1, 2 Row P.E.... Urbe S. (J. Biol. Chem. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    9. UBPY: a growth-regulated human ubiquitin isopeptidase. (PubMed id 9628861)1, 2 Naviglio S.... Draetta G.F. (EMBO J. 1998)
    10. An oncogenic fusion product of the phosphatidylinositol 3-kinase p85beta subunit and HUMORF8, a putative deubiquitinating enzyme. (PubMed id 9582025)1, 3 Janssen J.W.G.... Schulz A.S. (Oncogene 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9101 HGNC: 12631 AceView: USP8 Ensembl:ENSG00000138592 euGenes: HUgn9101
    ECgene: USP8 Kegg: 9101 H-InvDB: USP8

    (According to HUGE)
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    HUGE: KIAA0055

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for USP8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for USP8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for USP8 gene:
    Search GeneIP for patents involving USP8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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