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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OTUB1 Gene

protein-coding   GIFtS: 60
GCID: GC11P063753

OTU Domain, Ubiquitin Aldehyde Binding 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
OTU Domain, Ubiquitin Aldehyde Binding 11 2     otubain-12
OTB12 3 5     Ubiquitin Thioesterase OTUB12
OTU12 3 5     Ubiquitin-Specific Protease Otubain 12
Deubiquitinating Enzyme OTUB12 3     EC 3.4.19.123
Ubiquitin-Specific-Processing Protease OTUB12 3     Otubain-13
OTU Domain-Containing Ubiquitin Aldehyde-Binding Protein 12 3     hOTU13
OTU-Domain Ubal-Binding 12     EC 3.1.28

External Ids:    HGNC: 230771   Entrez Gene: 556112   Ensembl: ENSG000001677707   OMIM: 6083375   UniProtKB: Q96FW13   
ORGUL members:         
NONCODE14:n405868      

Export aliases for OTUB1 gene to outside databases

Previous GC identifers: GC11P063529 GC11P063510 GC11P060082


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OTUB1 Gene:
The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The
encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin
chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin
ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific
ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2008)

GeneCards Summary for OTUB1 Gene: 
OTUB1 (OTU domain, ubiquitin aldehyde binding 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with OTUB1 include tonsillitis, and fanconi's anemia, and among its related super-pathways are Cell Cycle / Checkpoint Control. GO annotations related to this gene include ubiquitin binding and ubiquitin protein ligase binding. An important paralog of this gene is OTUB2.

UniProtKB/Swiss-Prot: OTUB1_HUMAN, Q96FW1
Function: Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an
important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy,
a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to
their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy.
Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes
anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated
RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of 'Lys-48'-linked
polyubiquitin chains, but not 'Lys-63'-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable
of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to 'Lys-48'-linked ubiquitin
Function: Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3
ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites.
Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2
partner of RNF168, thereby limiting spreading of 'Lys-63'-linked histone H2A and H2AX marks. Inhibition occurs by
binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13
and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that
mimics a cleaved 'Lys48'-linked di-ubiquitin chain

Gene Wiki entry for OTUB1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OTUB1 gene promoter:
         Elk-1   RFX1   NF-1   NF-1/L   HSF1 (long)   NRF-2   Sox9   HSF1short   STAT3   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOTUB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OTUB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTUB1


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1

OTUB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTUB1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P063753:  view genomic region     (about GC identifiers)

Start:
63,753,325 bp from pter      End:
63,769,283 bp from pter
Size:
15,959 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OTUB1_HUMAN, Q96FW1 (See protein sequence)
Recommended Name: Ubiquitin thioesterase OTUB1  
Size: 271 amino acids; 31284 Da
Subunit: Isoform 1 and isoform 2 interact with RNF128. Isoform 1 forms a ternary complex with RNF128 and USP8.
Isoform 1 interacts with the C-terminal UCH catalytic domain of USP8. Isoform 2 does not associate with USP8.
Interacts with FUS, ESR1 and GNB2L1/RACK1. Interacts with UBE2N/UBC13
Subcellular location: Cytoplasm (By similarity)
Miscellaneous: In the structure described by PubMed:18954305, the His-265 active site of the catalytic triad is
located too far to interact directly with the active site Cys-91. A possible explanation is that OTUB1 is in
inactive conformation in absence of ubiquitin and a conformation change may move His-265 in the proximity of
Cys-91 in presence of ubiquitin substrate
Sequence caution: Sequence=AAF28941.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for OTUB1:
2ZFY (3D)        3VON (3D)        4DDG (3D)        4DDI (3D)        4DHZ (3D)        4I6L (3D)    
Secondary accessions: Q32Q78 Q96II3 Q9NXQ4 Q9P0B8
Alternative splicing: 2 isoforms:  Q96FW1-1   Q96FW1-2   (Lacks the catalytic sites for protease activity)

Explore the universe of human proteins at neXtProt for OTUB1: NX_Q96FW1

Explore proteomics data for OTUB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96FW1

  • 4 DME Specific Peptides for OTUB1 (Q96FW1)
     FPEGSEP  DRGEGGT  TRPDGNCF  KESDHIHIIAL 

    OTUB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OTUB1 Protein Expression
    REFSEQ proteins: NP_060140.2  
    ENSEMBL proteins: 
     ENSP00000439142   ENSP00000440211   ENSP00000402551   ENSP00000444357   ENSP00000437453  
     ENSP00000441328   ENSP00000444968   ENSP00000416973  

    Human Recombinant Protein Products for OTUB1: 
    EMD Millipore Purified and/or Recombinant OTUB1 Protein
    R&D Systems Recombinant & Natural Proteins for OTUB1 (Otubain-1)
    Enzo Life Sciences proteins for OTUB1
    OriGene Purified Protein for OTUB1
    OriGene Protein Over-expression Lysate for OTUB1
    OriGene MassSpec for OTUB1 
    OriGene Custom Protein Services for OTUB1
    GenScript Custom Purified and Recombinant Proteins Services for OTUB1
    Novus Biologicals OTUB1 Proteins
    Novus Biologicals OTUB1 Lysate
    Sino Biological Recombinant Protein for OTUB1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for OTUB1
    Cloud-Clone Corp. Proteins for OTUB1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    OTUB1 for ontologies           About GeneDecksing



    OTUB1 Antibody Products: 
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    Novus Biologicals OTUB1 Antibodies
    Abcam antibodies for OTUB1
    Cloud-Clone Corp. Antibodies for OTUB1 
    ThermoFisher Antibody for OTUB1
    LSBio Antibodies in human, mouse, rat for OTUB1 

    Assay Products for OTUB1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for OTUB1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OTUB1 
    Cloud-Clone Corp. CLIAs for OTUB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR003323 OTU
     IPR016615 Ubiquitin_thioesterase_Otubain
     IPR019400 Peptidase_C65_otubain

    Graphical View of Domain Structure for InterPro Entry Q96FW1

    ProtoNet protein and cluster: Q96FW1

    UniProtKB/Swiss-Prot: OTUB1_HUMAN, Q96FW1
    Domain: In addition to ubiquitin-binding at the Cys-91 active site, a proximal ubiquitin-binding site is also
    present at Cys-23 Occupancy of the active site is needed to enable tight binding to the second site. Distinct
    binding sites for the ubiquitins may allow to discriminate among different isopeptide linkages (i.e. 'Lys-48'-,
    'Lys-63'-linked polyubiquitin) in polyubiquitin substrates and achieve linkage-specific deubiquitination
    Similarity: Belongs to the peptidase C65 family
    Similarity: Contains 1 OTU domain


    OTUB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OTUB1_HUMAN, Q96FW1
    Function: Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an
    important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy,
    a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to
    their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy.
    Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes
    anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated
    RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of 'Lys-48'-linked
    polyubiquitin chains, but not 'Lys-63'-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable
    of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to 'Lys-48'-linked ubiquitin
    Function: Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3
    ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites.
    Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2
    partner of RNF168, thereby limiting spreading of 'Lys-63'-linked histone H2A and H2AX marks. Inhibition occurs by
    binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13
    and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that
    mimics a cleaved 'Lys48'-linked di-ubiquitin chain
    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)
    Enzyme regulation: By free ubiquitin: binding of free ubiquitin triggers conformational changes in the OTU domain
    and formation of a ubiquitin-binding helix in the N-terminus, promoting binding of the conjugated donor ubiquitin
    in UBE2N/UBC13 to OTUB1

         Enzyme Numbers (IUBMB): EC 3.1.22 EC 3.4.19.121

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004843ubiquitin-specific protease activity IDA18954305
    GO:0005515protein binding IPI16364312
    GO:0008242omega peptidase activity IEA--
    GO:0019784NEDD8-specific protease activity IDA18954305
    GO:0031625ubiquitin protein ligase binding IPI--
         
    OTUB1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for OTUB1:
     Decreased Wnt reporter activit  Decreased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OTUB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OTUB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OTUB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OTUB1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTUB1
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate OTUB1 (see all 17):
    hsa-miR-1226 hsa-miR-197 hsa-miR-661 hsa-miR-342-5p hsa-miR-23a hsa-miR-28-5p hsa-miR-548d-3p hsa-miR-634
    SwitchGear 3'UTR luciferase reporter plasmidOTUB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OTUB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTUB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OTUB1
    Sirion Biotech Customized adenovirus for overexpression of OTUB1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for OTUB1 (see all 7)
    OriGene ORF clones in mouse, rat for OTUB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OTUB1 (NM_017670)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTUB1
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                         Customized lentivirus expression plasmids for stable overexpression of OTUB1 

    Cell Line
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    Search LifeMap BioReagents cell lines for OTUB1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTUB1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OTUB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    2Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for OTUB1
        Cell Cycle / Checkpoint Control
    DNA Damage
    Protein Stability




    OTUB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTUB1

    5/55 Interacting proteins for OTUB1 (Q96FW11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D2P628371, 2, 3EBI-1058491,EBI-347677 MINT-8388718 MINT-8388703 MINT-8388563 I2D: score=5 
    TP53P046372, 3MINT-8380008 MINT-8380032 MINT-8388795 MINT-8380020 MINT-8380053 MINT-8380061 MINT-8380636 MINT-8388765 I2D: score=1 
    UBE2D1P516682, 3MINT-8388546 MINT-8388751 MINT-8388734 I2D: score=2 
    UBE2D3P610772, 3MINT-8388587 MINT-8388689 MINT-8388575 I2D: score=1 
    RHOAP615862, 3MINT-7717229 MINT-7717390 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006508proteolysis IEA--
    GO:0006974response to DNA damage stimulus IDA--
    GO:0019538protein metabolic process ----
    GO:0071108protein K48-linked deubiquitination IDA18954305

    OTUB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OTUB1

    Search CenterWatch for drugs/clinical trials and news about OTUB1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OTUB1 gene: 
    NM_017670.2  

    Unigene Cluster for OTUB1:

    OTU domain, ubiquitin aldehyde binding 1
    Hs.473788  [show with all ESTs]
    Unigene Representative Sequence: NR_003089
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301453(uc001nyf.1 uc001nyg.1 uc010rna.1) ENST00000541478
    ENST00000535715 ENST00000428192 ENST00000538426(uc009ypb.1) ENST00000543004
    ENST00000447683 ENST00000536443 ENST00000543988 ENST00000535140 ENST00000536943
    ENST00000422031
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTUB1
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate OTUB1 (see all 17):
    hsa-miR-1226 hsa-miR-197 hsa-miR-661 hsa-miR-342-5p hsa-miR-23a hsa-miR-28-5p hsa-miR-548d-3p hsa-miR-634
    SwitchGear 3'UTR luciferase reporter plasmidOTUB1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTUB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTUB1

    Additional mRNA sequence: 

    AF161381.1 AK000120.1 AK098029.1 AK225133.1 AK298287.1 AK303228.1 AK307413.1 AL096714.1 
    AY177200.1 BC007519.2 BC010368.1 BC107701.1 NR_003089.1 

    24/26 DOTS entries (see all 26):

    DT.100673331  DT.40107023  DT.100044589  DT.65286277  DT.95194975  DT.100044586  DT.120741968  DT.97856606 
    DT.120741804  DT.120741806  DT.97862416  DT.95375388  DT.120741893  DT.92466777  DT.100673325  DT.100673328 
    DT.101984460  DT.120741816  DT.120741881  DT.120741939  DT.120741964  DT.120741831  DT.120741845  DT.120741943 

    24/1333 AceView cDNA sequences (see all 1333):

    AW006161 CD517590 BU183639 BM472579 CR605354 AA323112 BE302042 AW468110 
    R54725 BQ225607 F28051 BI823397 BQ548605 AA298765 BE887772 AI290988 
    BM828931 BI824009 BU859734 CB856902 BM351840 BM470037 CR617582 AI266283 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for OTUB1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
    SP1:                          -           -           -           -                 -               
    SP2:                          -           -           -           -                                 
    SP3:                                      -           -           -                                 
    SP4:                          -           -           -                                             
    SP5:                          -                       -                                             


    ECgene alternative splicing isoforms for OTUB1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OTUB1 expression in normal human tissues (normalized intensities)      OTUB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATTAAA
    OTUB1 Expression
    About this image


    OTUB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   

    See OTUB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OTUB1

    SOURCE GeneReport for Unigene cluster: Hs.473788

    UniProtKB/Swiss-Prot: OTUB1_HUMAN, Q96FW1
    Tissue specificity: Isoform 1 is ubiquitous. Isoform 2 is expressed only in lymphoid tissues such as tonsils,
    lymph nodes and spleen, as well as peripheral blood mononuclear cells

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OTUB1 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Otub11 , 5 OTU domain, ubiquitin aldehyde binding 11, 5 93.23(n)1
    99.63(a)1
      19 (5.27 cM)5
    1072601  NM_134150.21  NP_598911.11 
     71982025 
    chicken
    (Gallus gallus)
    Aves LOC7773201 ubiquitin thioesterase OTUB1-like 80(n)
    81.85(a)
      777320  XM_001236781.2  XP_001236782.2 
    lizard
    (Anolis carolinensis)
    Reptilia OTUB16
    Uncharacterized protein
    85(a)
    1 ↔ 1
    GL343555.1(16256-30093)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ036970.12   -- 73.55(n)    BJ036970.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa19h072 Transcribed sequence with moderate similarity to protein more 77.77(n)    CK400405.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG49681 CG4968 61.04(n)
    57.61(a)
      34384  NM_135531.2  NP_609375.1 
    worm
    (Caenorhabditis elegans)
    Secernentea otub-11 Protein OTUB-1 45.51(n)
    34.62(a)
      3565820  NM_074308.3  NP_506709.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G281201 ubiquitin thioesterase otubain-like protein 50.14(n)
    46.72(a)
      839705  NM_102577.3  NP_564299.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05378001 hypothetical protein 55.9(n)
    51.04(a)
      4346169  NM_001068902.1  NP_001062367.1 


    ENSEMBL Gene Tree for OTUB1 (if available)
    TreeFam Gene Tree for OTUB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTUB1 gene
    OTUB22  
    2 SIMAP similar genes for OTUB1 using alignment to 7 protein entries:     OTUB1_HUMAN (see all proteins):
    DKFZp564E242    OTUB2

    OTUB1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/308 SNPs in OTUB1 are shown (see all 308)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113511041,2
    C--63672840(+) AAAAA-/A/AA  
            
    TGTTA
    2 -- us2k1 trp31NA 2
    rs1508379641,2
    --63751496(+) CTGTCA/GCACAG 2 -- us2k10--------
    rs1912818661,2
    --63751784(+) AATAAA/GCCATC 2 -- us2k10--------
    rs618846721,2
    C,F--63751818(+) AGGTGC/TGGTGG 2 -- us2k14Minor allele frequency- T:0.48NA EA 244
    rs1398793521,2
    C--63752028(+) GGTTGA/CGGTGA 2 -- us2k10--------
    rs1143538451,2
    C--63752154(+) CCCAGG/TCTGGT 2 -- us2k10--------
    rs1156071911,2
    C,F--63752165(+) CTCCAA/GTGAAA 2 -- us2k13Minor allele frequency- G:0.07WA NA EA 358
    rs1473312921,2
    C--63752277(+) GCTCAC/TGCCTG 2 -- us2k10--------
    rs112316681,2
    C,F,H--63752509(+) ACTCCA/GGCCTG 2 -- us2k15Minor allele frequency- G:0.01NS EA 480
    rs340839111,2
    C--63752540(+) GTCTC-/AAAAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for OTUB1 (63753325 - 63769283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for OTUB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1155n71CNV Loss21882294
    esv29993CNV Loss17803354
    nsv897642CNV Loss21882294
    dgv1159n71CNV Loss21882294
    dgv1156n71CNV Loss21882294
    nsv897648CNV Loss21882294
    nsv897639CNV Loss21882294
    dgv1160n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608337    OMIM disorders: --

    4 diseases for OTUB1:    About MalaCards
    tonsillitis    fanconi's anemia    pneumonia    anemia


    OTUB1 for disorders           About GeneDecksing


    Export disorders for OTUB1 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)
    About This Section

    PubMed articles for OTUB1 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with OTUB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Otubains: a new family of cysteine proteases in the ubiquitin pathway. (PubMed id 12704427)1, 2, 3 Balakirev M.Y.... Chroboczek J. (2003)
    2. OTU Domain-containing ubiquitin aldehyde-binding protein 1 (OTUB1) deubiquitinates estrogen receptor (ER) alpha and affects ERalpha transcriptional activity. (PubMed id 19383985)1, 2, 9 Stanisic V.... O'Malley B.W. (2009)
    3. Evidence for bidentate substrate binding as the basis for the K48 linkage specificity of otubain 1. (PubMed id 19211026)1, 2, 9 Wang T....Wolberger C. (2009)
    4. Structural basis and specificity of human otubain 1-mediated deubiquitination. (PubMed id 18954305)1, 2, 9 Edelmann M.J.... Kessler B.M. (2009)
    5. OTUB1 co-opts Lys48-linked ubiquitin recognition to su ppress E2 enzyme function. (PubMed id 22325355)1, 2 Juang Y.C....Durocher D. (2012)
    6. The mechanism of OTUB1-mediated inhibition of ubiquiti nation. (PubMed id 22367539)1, 2 Wiener R....Wolberger C. (2012)
    7. Non-canonical inhibition of DNA damage-dependent ubiq uitination by OTUB1. (PubMed id 20725033)1, 2 Nakada S....Durocher D. (2010)
    8. Two isoforms of otubain 1 regulate T cell anergy via GRAIL. (PubMed id 14661020)1, 2 Soares L.... Fathman C.G. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55611 HGNC: 23077 AceView: COX8AandOTUB1 Ensembl:ENSG00000167770 euGenes: HUgn55611
    ECgene: OTUB1 H-InvDB: OTUB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OTUB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for OTUB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OTUB1 gene:
    Search GeneIP for patents involving OTUB1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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