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UBR5 Gene

protein-coding   GIFtS: 62
GCID: GC08M103265

Ubiquitin Protein Ligase E3 Component N-Recognin 5

(Previous names: E3 ubiquitin protein ligase, HECT domain containing, 1)
(Previous symbol: EDD1)
  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)
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Aliases
Ubiquitin Protein Ligase E3 Component N-Recognin 51 2     DD52
EDD11 2 3 5     E3 Identified By Differential Display2
HYD2 3 5     E3 Ubiquitin-Protein Ligase UBR52
E3 Ubiquitin Protein Ligase, HECT Domain Containing, 11 2     Progestin Induced Protein2
Hyperplastic Discs Protein Homolog2 3     Ubiquitin-Protein Ligase2
Progestin-Induced Protein2 3     EC 6.3.2.-3
EDD2 3     hHYD3
E3 Ubiquitin-Protein Ligase, HECT Domain-Containing 12 3     EC 6.3.28
KIAA08963 5     

External Ids:    HGNC: 168061   Entrez Gene: 513662   Ensembl: ENSG000001045177   OMIM: 6084135   UniProtKB: O950713   

Export aliases for UBR5 gene to outside databases

Previous GC identifers: GC08M103336 GC08M098464


(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 UBR5 Gene:
This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus)
family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for
ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of
cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. (provided by
RefSeq, Jul 2008)

GeneCards Summary for UBR5 Gene:
UBR5 (ubiquitin protein ligase E3 component n-recognin 5) is a protein-coding gene. Diseases associated with UBR5 include acneiform dermatitis, and aortic valve insufficiency. GO annotations related to this gene include ubiquitin binding and RNA binding. An important paralog of this gene is NEDD4L.

UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to
proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to
their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional
regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle
progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the
DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also
acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase
that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard
against excessive spreading of ubiquitinated chromatin at damaged chromosomes

Gene Wiki entry for UBR5 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:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBR5 gene promoter:
         CUTL1   POU6F1 (c2)   GATA-1   CREB   N-Myc   IRF-2   FOXO4   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): UBR5 promoter sequence
   Search Chromatin IP Primers for UBR5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBR5


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q22

UBR5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBR5 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M103265:  view genomic region     (about GC identifiers)

Start:
103,264,501 bp from pter      End:
103,425,069 bp from pter
Size:
160,569 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase UBR5  
Size: 2799 amino acids; 309352 Da
Subunit: Binds TOPBP1. Associates with CDK9 and TFIIS/TCEA1 and forms a transcription regulatory complex made of
CDK9, RNAP II, UBR5 and TFIIS/TCEA1 that can stimulate target gene transcription (e.g. gamma fibrinogen/FGG) by
recruiting their promoters. Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP
proteins (EDVP complex). Interacts directly with DYRK2
Miscellaneous: A cysteine residue is required for ubiquitin-thioester formation
Sequence caution: Sequence=BAA74919.3; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for UBR5:
1I2T (3D)        2QHO (3D)        3PT3 (3D)    
Secondary accessions: B2RP24 O94970 Q9NPL3

Explore the universe of human proteins at neXtProt for UBR5: NX_O95071

Explore proteomics data for UBR5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys200, Lys337, Lys672, Lys720, Lys761, Lys1109, Lys1305, Lys1340, Lys2320
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UBR5 (O95071) (see all 6)
     PHLLQPN  PGKRGFYTPR  ERQDLVYFWT  LPASEEGFQP 


    See UBR5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_056986.2  NP_001269802.1  

    ENSEMBL proteins: 
     ENSP00000429084   ENSP00000220959   ENSP00000428693   ENSP00000427819   ENSP00000428062  
     ENSP00000429127   ENSP00000428138  

    UBR5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for UBR5
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    Novus Biologicals UBR5 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBR5

    UBR5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for UBR5
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    Novus Biologicals UBR5 Antibodies
    Search for Antibodies for UBR5 at Abcam
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    ThermoFisher Antibodies for UBR5
    LSBio Antibodies in human, mouse, rat for UBR5

    UBR5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UBR5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UBR5
    Cloud-Clone Corp. CLIAs for UBR5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBR: Ubiquitin protein ligase E3 component n-recognins

    Selected InterPro protein domains (see all 6):
     IPR002004 PABP_HYD
     IPR013993 Znf_N-recognin_met
     IPR009091 RCC1/BLIP-II
     IPR000569 HECT
     IPR003126 Znf_N-recognin

    Graphical View of Domain Structure for InterPro Entry O95071

    ProtoNet protein and cluster: O95071

    3 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB000569 HECT domain (Ubiquitin-protein ligase)
    IPB003126 Zn-finger (putative)


    UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 1 PABC domain
    Similarity: Contains 1 UBR-type zinc finger


    UBR5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBR5_HUMAN, O95071
    Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to
    proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to
    their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional
    regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle
    progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the
    DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also
    acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase
    that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard
    against excessive spreading of ubiquitinated chromatin at damaged chromosomes

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004842ubiquitin-protein ligase activity TAS10030672
    GO:0005515protein binding IPI12011095
    GO:0008270zinc ion binding IEA--
    GO:0034450ubiquitin-ubiquitin ligase activity IDA--
         
    UBR5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UBR5:
     Decreased POU5F1-GFP protein e  Decreased cilium length after  

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ubr5):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     homeostasis/metabolism  mortality/aging  nervous system 

    UBR5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBR5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UBR5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBR5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBR5

    miRNA
    Products:
        
    miRTarBase miRNAs that target UBR5:
    hsa-mir-21-5p (MIRT031026), hsa-mir-331-3p (MIRT043427), hsa-mir-93-5p (MIRT028107), hsa-mir-484 (MIRT016621), hsa-mir-1 (MIRT024039)

    Block miRNA regulation of human, mouse, rat UBR5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBR5 (see all 61):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-361-5p hsa-miR-3938 hsa-miR-642a hsa-miR-300 hsa-miR-106a hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidUBR5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UBR5
    Predesigned siRNA for gene silencing in human, mouse, rat UBR5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UBR5

    Clone
    Products:
         
    OriGene clones in human, mouse for UBR5 (see all 6)
    OriGene ORF clones in mouse, rat for UBR5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBR5 (NM_015902)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UBR5
    Browse ESI BIO Cell Lines and PureStem Progenitors for UBR5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR5


    (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
    UBR5_HUMAN, O95071: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    UBR5 for ontologies           About GeneDecksing


    (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 UBR5 About    
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    2Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    3Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBR5
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Cell Signaling Technology (CST) Pathway for UBR5
        Protein Stability

    1 BioSystems Pathway for UBR5
        Tryptophan metabolism


    1 Kegg Pathway  (Kegg details for UBR5):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
    Pathway: Protein modification; protein ubiquitination


    UBR5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including UBR5: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UBR5

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

    Selected Interacting proteins for UBR5 (O950711, 2, 3 ENSP000002209594) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-61593 I2D: score=3 
    PAIP2Q9BPZ31, 2, 3, ENSP000002651924EBI-358329,EBI-2957445 MINT-1899264 MINT-1899175 MINT-1899242 MINT-1899220 MINT-1899195 I2D: score=3 STRING: ENSP00000265192
    CIB1Q998283, ENSP000003338734I2D: score=3 STRING: ENSP00000333873
    MAPK1P284823, ENSP000002158324I2D: score=3 STRING: ENSP00000215832
    KPNA1P522943, ENSP000003437014I2D: score=2 STRING: ENSP00000343701
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA--
    GO:0006281DNA repair IEA--
    GO:0006511ubiquitin-dependent protein catabolic process TAS10030672
    GO:0006974cellular response to DNA damage stimulus IMP--
    GO:0008283cell proliferation TAS10030672

    UBR5 for ontologies           About GeneDecksing



    (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 UBR5

    4 HMDB Compounds for UBR5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for UBR5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 44.2 2 11287654 (1), 16554297 (1)



    UBR5 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UBR5 gene (2 alternative transcripts): 
    NM_015902.5  NM_001282873.1  

    Unigene Cluster for UBR5:

    Ubiquitin protein ligase E3 component n-recognin 5
    Hs.492445  [show with all ESTs]
    Unigene Representative Sequence: NM_015902
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520539(uc003ykr.2 uc003yks.2) ENST00000220959 ENST00000517465
    ENST00000518205 ENST00000521922 ENST00000521767 ENST00000521312 ENST00000521566
    ENST00000519528 ENST00000520898 ENST00000519365 ENST00000518145 ENST00000522327

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UBR5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBR5 (see all 61):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-361-5p hsa-miR-3938 hsa-miR-642a hsa-miR-300 hsa-miR-106a hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidUBR5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for UBR5
    Predesigned siRNA for gene silencing in human, mouse, rat UBR5
    Clone
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    OriGene clones in human, mouse for UBR5 (see all 6)
    OriGene ORF clones in mouse, rat for UBR5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBR5 (NM_015902)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR5
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for UBR5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBR5
      QuantiTect SYBR Green Assays in human, mouse, rat UBR5
      QuantiFast Probe-based Assays in human, mouse, rat UBR5

    Additional mRNA sequence: 

    AB020703.3 AF006010.2 AF090904.1 AK002172.1 AK095151.1 AK124995.1 AL833555.1 BC037843.1 
    BC044598.1 BC053948.1 BC137234.1 BC151231.1 U95000.1 

    Selected DOTS entries (see all 26):

    DT.443859  DT.95311540  DT.95236792  DT.100686108  DT.120644164  DT.100791494  DT.100791502  DT.100791504 
    DT.439387  DT.120644153  DT.95311536  DT.100667537  DT.120644231  DT.433203  DT.91764762  DT.99959733 
    DT.120644174  DT.120644239  DT.75101365  DT.91764758  DT.91832311  DT.95235827  DT.95251056  DT.40193997 

    Selected AceView cDNA sequences (see all 343):

    BM976309 F07955 AI566211 AL833555 AA554058 BM127718 AW385164 BP338104 
    BC044598 BP364256 NM_015902 AK124995 AK002172 BQ017048 BU674324 BC053948 
    BF724803 BQ184759 BF968973 AA369775 CD511402 BG286817 BQ436661 BX489191 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBR5 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                -                                                                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 52a · 52b · 52c ^ 53 ^ 54a · 54b ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b · 60c
    SP1:  -     -     -                                                                     
    SP2:  -     -     -                                                                     
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for UBR5

    (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)
    About This Section

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    UBR5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UBR5 Expression
    About this image

    UBR5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBR5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492445

    UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
    Tissue specificity: Widely expressed. Most abundant in testis and expressed at high levels in brain, pituitary and
    kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including UBR5: 
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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.

    Orthologs for UBR5 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubr51 , 5 ubiquitin protein ligase E3 component n-recognin 51, 5 90.52(n)1
    98.25(a)1
      15 (15.10 cM)5
    707901  NM_001081359.31  NP_001074828.21 
     379673285 
    chicken
    (Gallus gallus)
    Aves UBR51 ubiquitin protein ligase E3 component n-recognin 5 84.99(n)
    97.84(a)
      420252  XM_003640847.2  XP_003640895.2 
    lizard
    (Anolis carolinensis)
    Reptilia UBR56
    ubiquitin protein ligase E3 component n-recognin 5...
    97(a)
    1 ↔ 1
    4(13958200-14010086)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.86062 Xenopus laevis transcribed sequence with strong similarity more 80.48(n)    CA793015.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa16c122 Transcribed sequence with strong similarity to protein more 76.41(n)    CK026475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hyd1 hyperplastic discs 50.2(n)
    46(a)
      41181  NM_079572.3  NP_524296.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F36A2.136
    Protein F36A2.13 (F36A2.13) mRNA, complete cds
    27(a)
    1 ↔ 1
    I(8828044-8838719) WBGene00009460


    ENSEMBL Gene Tree for UBR5 (if available)
    TreeFam Gene Tree for UBR5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBR5 gene
    NEDD4L2  HECW22  AREL12  WWP22  SMURF22  HECW12  SMURF12  HUWE12  
    NEDD42  WWP12  ITCH2  
    5 SIMAP similar genes for UBR5 using alignment to 9 protein entries:     UBR5_HUMAN (see all proteins):
    RLIM    PABPC1    HACE1    AREL1    FBXO11

    UBR5 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), 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 UBR5 (see all 3210)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851085101,2
    Cuntested1103354860(+) AAAACA/GGATTC 2 S syn10--------
    rs105489731,2
    C--98591157(+) gactc-/A/AA  
            
    aaaaa
    1 -- int11NA 2
    rs1144354821,2
    C,F--103264068(+) TCCTGG/ACCTCC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1815851201,2
    C--103264092(+) TGAATC/GAGAAA 1 -- ds50010--------
    rs1173350221,2
    F--103264138(+) ATTAAC/TAAACT 1 -- ds50011Minor allele frequency- T:0.05NA 120
    rs732833671,2
    C,F--103264143(+) CAAACT/GTTACA 1 -- ds50012Minor allele frequency- G:0.29WA 120
    rs1857977871,2
    --103264165(+) CAACAC/TACAGA 1 -- ds50010--------
    rs1422593871,2
    --103264166(+) AACATA/GCAGAA 1 -- ds50010--------
    rs1910078091,2
    --103264182(+) GAAACC/TACTGC 1 -- ds50010--------
    rs1832322961,2
    --103264194(+) TCAAGA/GGATTA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for UBR5 (103264501 - 103425069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for UBR5:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1299e199CNV Deletion23128226
    nsv6335CNV Insertion18451855
    esv25807CNV Loss19812545
    nsv528486CNV Loss19592680
    esv33118CNV Loss17666407
    nsv891244CNV Gain21882294
    dgv7840n71CNV Gain21882294
    nsv831412CNV Gain17160897

    Human Gene Mutation Database (HGMD): UBR5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBR5
    DNA2.0 Custom Variant and Variant Library Synthesis for UBR5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608413    OMIM disorders: --

    13 diseases for UBR5:    
    About MalaCards
    acneiform dermatitis    aortic valve insufficiency    echinococcosis    eating disorder
    mantle cell lymphoma    brain cancer    colon adenocarcinoma    dermatitis
    adenocarcinoma    ovarian cancer    hiv-1    breast cancer
    malaria

    3 diseases from the University of Copenhagen DISEASES database for UBR5:
    Echinococcosis     Acneiform dermatitis     Eating disorder

    UBR5 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for UBR5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 17.7 4 10030672 (1), 12902990 (1)
    cancer 0 8 12902990 (3), 10030672 (1)

    Genetic Association Database (GAD): UBR5

    Export disorders for UBR5 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 UBR5 gene, integrated from 10 sources (see all 99):
    (articles sorted by number of sources associating them with UBR5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. (PubMed id 10030672)1, 2, 3, 9 Callaghan M.J.... Watts C.K.W. (Oncogene 1998)
    2. X-ray structure of the human hyperplastic discs protein: an ortholog of the C-terminal domain of poly(A)-binding protein. (PubMed id 11287654)1, 2, 9 Deo R.C.... Burley S.K. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    3. TRIP12 and UBR5 Suppress Spreading of Chromatin Ubiquitylation at Damaged Chromosomes. (PubMed id 22884692)1, 2 Gudjonsson T.... Lukas C. (Cell 2012)
    4. Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase. (PubMed id 21726808)1, 2 Jiang W.... Zhao S. (Mol. Cell 2011)
    5. Transcription factor IIS cooperates with the E3 ligase UBR5 to ubiquitinate the CDK9 subunit of the positive transcription elongation factor B. (PubMed id 21127351)1, 2 Cojocaru M.... Coulombe B. (J. Biol. Chem. 2011)
    6. Protein kinase DYRK2 is a scaffold that facilitates assembly of an E3 ligase. (PubMed id 19287380)1, 2 Maddika S. and Chen J. (Nat. Cell Biol. 2009)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons. (PubMed id 16055722)1, 3 Tasaki T....Kwon Y.T. (Mol. Cell. Biol. 2005)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    10. Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response. (PubMed id 11714696)1, 2 Honda Y.... Nakao M. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 51366 HGNC: 16806 AceView: EDD Ensembl:ENSG00000104517 euGenes: HUgn51366
    ECgene: UBR5 Kegg: 51366 H-InvDB: UBR5

    (According to HUGE)
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    HUGE: KIAA0896

    (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 UBR5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UBR5 gene:
    Search GeneIP for patents involving UBR5

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



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