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UBR3 Gene

protein-coding   GIFtS: 48
GCID: GC02P170683

Ubiquitin Protein Ligase E3 Component N-Recognin 3 (Putative)

(Previous name: zinc finger protein 650)
(Previous symbol: ZNF650)
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(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 3 (Putative)1 2     N-recognin-32 3
Zinc Finger Protein 6501 2 3     E3 Ubiquitin-Protein Ligase UBR32
ZNF6501 2 3     EC 6.3.2.-3
Ubiquitin-Protein Ligase E3-Alpha-32 3     KIAA20243
Ubiquitin-Protein Ligase E3-Alpha-III2 3     

External Ids:    HGNC: 304671   Entrez Gene: 1305072   Ensembl: ENSG000001443577   OMIM: 6138315   UniProtKB: Q6ZT123   

Export aliases for UBR3 gene to outside databases

Previous GC identifers: GC02P170494 GC02P170392 GC02P162572


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UBR3 Gene:
UBR3 (ubiquitin protein ligase E3 component n-recognin 3 (putative)) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is UBR2.

UniProtKB/Swiss-Prot: UBR3_HUMAN, Q6ZT12
Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Does not bind 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)




(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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBR3 gene promoter:
         Nkx3-1   Nkx3-1 v4   AML1a   NRSF form 1   MIF-1   Cdc5   NRSF form 2   c-Ets-1   GATA-2   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBR3 promoter sequence
   Search Chromatin IP Primers for UBR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBR3


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

UBR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBR3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P170683:  view genomic region     (about GC identifiers)

Start:
170,683,968 bp from pter      End:
170,940,641 bp from pter
Size:
256,674 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: UBR3_HUMAN, Q6ZT12 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase UBR3  
Size: 1888 amino acids; 212433 Da
Subunit: Interacts with UBE2A and UBE2B (By similarity)
Sequence caution: Sequence=BAC23120.1; Type=Erroneous initiation; Sequence=BAC86783.1; Type=Erroneous initiation;
Sequence=BAC87032.1; Type=Erroneous initiation; Sequence=BAG64179.1; Type=Erroneous initiation;
Sequence=CAD38857.1; Type=Erroneous termination; Positions=1525; Note=Translated as Gln;
Secondary accessions: B4DZR7 Q2KHN5 Q6ZR55 Q6ZSC2 Q8IVE7 Q8ND96
Alternative splicing: 4 isoforms:  Q6ZT12-1   Q6ZT12-2   Q6ZT12-3   Q6ZT12-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBR3: NX_Q6ZT12

Explore proteomics data for UBR3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UBR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_742067.3  
    ENSEMBL proteins: 
     ENSP00000272793   ENSP00000415982   ENSP00000376409   ENSP00000389097   ENSP00000408436  
     ENSP00000396068   ENSP00000376408  

    UBR3 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for UBR3
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    Novus Biologicals UBR3 Proteins
    Novus Biologicals UBR3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBR3

     
    Search eBioscience for Proteins for UBR3 

    UBR3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for UBR3 at Abcam
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    Search LSBio for Antibodies for UBR3

    UBR3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for UBR3
    Cloud-Clone Corp. CLIAs for UBR3
    Search eBioscience for ELISAs for UBR3 


    (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

    1 InterPro protein domain:
     IPR003126 Znf_N-recognin

    Graphical View of Domain Structure for InterPro Entry Q6ZT12

    ProtoNet protein and cluster: Q6ZT12

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: UBR3_HUMAN, Q6ZT12
    Similarity: Belongs to the UBR1 family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 UBR-type zinc finger


    Find genes that share domains with UBR3           About GenesLikeMe


    (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, 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: UBR3_HUMAN, Q6ZT12
    Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Does not bind 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)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity ISS--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with UBR3           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ubr3):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  taste/olfaction 

    Find genes that share phenotypes with UBR3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ubr3tm1Ytkw for UBR3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBR3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UBR3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBR3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBR3

    miRNA
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    miRTarBase miRNAs that target UBR3:
    hsa-mir-615-3p (MIRT016149), hsa-mir-23b-3p (MIRT046319), hsa-mir-21-5p (MIRT030893)

    Block miRNA regulation of human, mouse, rat UBR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBR3 (see all 40):
    hsa-miR-15a hsa-miR-139-5p hsa-miR-485-3p hsa-miR-218 hsa-miR-424 hsa-miR-1183 hsa-miR-15b hsa-miR-374b*
    SwitchGear 3'UTR luciferase reporter plasmidUBR3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UBR3
    Predesigned siRNA for gene silencing in human, mouse, rat UBR3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for UBR3

    Clone
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    OriGene clones in human, mouse for UBR3 (see all 6)
    OriGene ORF clones in mouse, rat for UBR3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBR3 (NM_172070)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR3
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat UBR3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for UBR3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR3


    (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
    UBR3_HUMAN, Q6ZT12: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with UBR3           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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    UniProtKB/Swiss-Prot: UBR3_HUMAN, Q6ZT12
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including UBR3: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UBR3

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

    Selected Interacting proteins for UBR3 (Q6ZT123 ENSP000003960684) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2BP631463, ENSP000002653394I2D: score=2 STRING: ENSP00000265339
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    PGDP522093, ENSP000002707764I2D: score=1 STRING: ENSP00000270776
    PSMC2P359983, ENSP000002926444I2D: score=1 STRING: ENSP00000292644
    UAP1Q162223, ENSP000003569034I2D: score=1 STRING: ENSP00000356903
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001967suckling behavior ISS--
    GO:0006511ubiquitin-dependent protein catabolic process ISS--
    GO:0007608sensory perception of smell ISS--
    GO:0009790embryo development ISS--

    Find genes that share ontologies with UBR3           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 UBR3



    (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 UBR3 gene: 
    NM_172070.3  

    Unigene Cluster for UBR3:

    Ubiquitin protein ligase E3 component n-recognin 3 (putative)
    Hs.379548  [show with all ESTs]
    Unigene Representative Sequence: NM_172070
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272793(uc010fqa.3 uc010zdj.2) ENST00000430321(uc002ufr.4)
    ENST00000392632(uc002uft.4) ENST00000477461 ENST00000487689 ENST00000439681
    ENST00000444475 ENST00000465630 ENST00000474426(uc002ufu.4) ENST00000484596
    ENST00000418381(uc010zdi.2) ENST00000392631
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UBR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBR3 (see all 40):
    hsa-miR-15a hsa-miR-139-5p hsa-miR-485-3p hsa-miR-218 hsa-miR-424 hsa-miR-1183 hsa-miR-15b hsa-miR-374b*
    SwitchGear 3'UTR luciferase reporter plasmidUBR3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UBR3
    Predesigned siRNA for gene silencing in human, mouse, rat UBR3
    Clone
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    OriGene clones in human, mouse for UBR3 (see all 6)
    OriGene ORF clones in mouse, rat for UBR3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBR3 (NM_172070)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR3
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat UBR3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for UBR3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBR3
      QuantiTect SYBR Green Assays in human, mouse, rat UBR3
      QuantiFast Probe-based Assays in human, mouse, rat UBR3

    Additional mRNA sequence: 

    AB095944.1 AK094741.1 AK126998.1 AK127553.1 AK128490.1 AK303062.1 AL834144.1 BC044060.1 
    BC044594.1 BC113010.2 BX649036.1 CR749469.1 

    10 DOTS entries:

    DT.443713  DT.91660924  DT.95311912  DT.91659086  DT.100667876  DT.120942765  DT.40216002  DT.99936504 
    DT.91684797  DT.99945813 

    Selected AceView cDNA sequences (see all 119):

    BU686724 CD678661 AI760153 AI560652 BU158552 BC044060 CD723264 AI868084 
    CA447822 AA569001 BX494687 AI708334 AW273490 AA702634 AA729970 AA346107 
    AI760142 AI095873 BX110968 BQ229530 CK904734 AI963740 BU183174 AK128490 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBR3 (see all 6)    About this scheme

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

    ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for UBR3

    (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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    UBR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTAAACT
    UBR3 Expression
    About this image

    UBR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.379548
        Pathway & Disease-focused RT2 Profiler PCR Array including UBR3: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UBR3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBR3
    QuantiTect SYBR Green Assays in human, mouse, rat UBR3
    QuantiFast Probe-based Assays in human, mouse, rat UBR3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR3

    (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 UBR3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubr31 , 5 ubiquitin protein ligase E3 component n-recognin 31, 5 89.55(n)1
    95.16(a)1
      2 (40.95 cM)5
    687951  NM_177783.51  NP_808451.21 
     698972465 
    chicken
    (Gallus gallus)
    Aves ZNF6501 zinc finger protein 650 82.22(n)
    88.62(a)
      424158  XM_004942750.1  XP_004942807.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    83(a)
    81(a)
    1 ↔ many
    1 ↔ many
    GL343362.1(628535-686181)
    GL343362.1(586587-612184)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ubr31 ubiquitin protein ligase E3 component n-recognin 3 more 76.16(n)
    82.08(a)
      100498471  XM_002934622.2  XP_002934668.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb72f062 wufb72f06 73.66(n)   322753  57042958 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425931 CG42593 48.24(n)
    41.07(a)
      31713  NM_001272389.1  NP_001259318.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F10G7.106
    Protein F10G7.10, isoform b (F10G7.10) mRNA, compl...
    18(a)
    1 ↔ 1
    II(4713673-4726262) WBGene00017373
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBR16
    UBR26
    E3 ubiquitin ligase (N-recognin), forms heterodime...
    Cytoplasmic ubiquitin-protein ligase (E3); require...
    14(a)
    13(a)
    many ↔ many
    many ↔ many
    VII(859901-865753) YGR184C
    XII(187663-193281) YLR024C


    ENSEMBL Gene Tree for UBR3 (if available)
    TreeFam Gene Tree for UBR3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBR3 gene
    UBR22  UBR12  
    1 SIMAP similar gene for UBR3 using alignment to 5 protein entries:     UBR3_HUMAN (see all proteins):
    DKFZp686N10185

    Find genes that share paralogs with UBR3           About GenesLikeMe



    (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 UBR3 (see all 5087)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113888651,2
    C--170159306(+) GGTCC-/T/TT  
            
    TTTTT
    1 -- int10--------
    rs102070221,2
    C,H--170683375(+) CCTCCC/GGAGTA 1 -- us2k15Minor allele frequency- G:0.11NA WA CSA 9
    rs1426299121,2
    C--170683444(+) CAGGGC/TTTCAC 1 -- us2k10--------
    rs569638991,2
    C--170683517(+) AAGTGC/TTGGGA 1 -- us2k10--------
    rs130081461,2
    C,F,H--170683607(+) GGGGTC/TTCATT 1 -- us2k124Minor allele frequency- T:0.25NS EA NA WA CSA 2354
    rs1900024571,2
    --170683733(+) AAATAA/GTTGCC 1 -- us2k10--------
    rs1399524531,2
    --170683989(+) TGGCCC/TTGGAC 1 -- us2k10--------
    rs23035551,2
    C,A--170684224(-) CCGCCA/GGCAGC 2 A syn12Minor allele frequency- G:0.00NA 4
    rs1141537341,2
    F--170684524(+) GGCGCC/TTGCGA 2 A syn11Minor allele frequency- T:0.12WA 118
    rs790363041,2
    C,F--170684548(+) AACGTG/AATGCG 2 /V syn12Minor allele frequency- A:0.10WA EA 238

    HapMap Linkage Disequilibrium report for UBR3 (170683968 - 170933968 bp, first 250kb of UBR3)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for UBR3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672983CNV Deletion23128226
    esv2457130CNV Deletion19546169
    esv2657393CNV Deletion23128226
    nsv875407CNV Loss21882294
    nsv10201CNV Loss18304495

    Human Gene Mutation Database (HGMD): UBR3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBR3
    DNA2.0 Custom Variant and Variant Library Synthesis for UBR3

    (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: 613831    OMIM disorders: --


    Find genes that share disorders with UBR3           About GenesLikeMe

    Genetic Association Database (GAD): UBR3
    Human Genome Epidemiology (HuGE) Navigator: UBR3 (1 document)

    Export disorders for UBR3 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 UBR3 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with UBR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke. (PubMed id 19910543)1, 4 Ding H....Wang D.W. ( a journal of cerebral circulation 2010)
    2. Biochemical and genetic studies of UBR3, a ubiquitin ligase with a function in olfactory and other sensory systems. (PubMed id 17462990)1, 3 Tasaki T....Kwon Y.T. (J. Biol. Chem. 2007)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Systematic analysis of dimeric E3-RING interactions reveals increased combinatorial complexity in human ubiquitination networks. (PubMed id 22493164)1 Woodsmith J....Sanderson C.M. (amp 2012)
    6. Ubiquitin ligase UBR3 regulates cellular levels of the essential DNA repair protein APE1 and is required for genome stability. (PubMed id 21933813)1 Meisenberg C....Dianov G.L. (Nucleic Acids Res. 2012)
    7. Alternative ubiquitin activation/conjugation cascades interact with N-end rule ubiquitin ligases to control degradation of RGS proteins. (PubMed id 21816346)1 Lee P.C....Harper J.W. (Mol. Cell 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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: 130507 HGNC: 30467 AceView: KIAA2024 Ensembl:ENSG00000144357 euGenes: HUgn130507
    ECgene: UBR3 H-InvDB: UBR3

    (According to HUGE)
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    HUGE: KIAA2024

    (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 UBR3 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 UBR3 gene:
    Search GeneIP for patents involving UBR3

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



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