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UBE2G1 Gene

protein-coding   GIFtS: 60
GCID: GC17M004120

Ubiquitin-Conjugating Enzyme E2G 1

(Previous names: ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans...)
(Previous symbol: UBE2G)
  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-Conjugating Enzyme E2G 11 2     Ubiquitin-Protein Ligase G12 3
UBE2G1 2 3 5     E217K2 3
Ubiquitin-Conjugating Enzyme E2G 1 (Homologous To C. Elegans UBC7)1 2     UBC72 3
Ubiquitin-Conjugating Enzyme E2G 1 (UBC7 Homolog, C. Elegans)1 2     EC 6.3.2.193 8
Ubiquitin-Conjugating Enzyme E2G 1 (UBC7 Homolog, Yeast)1 2     Ubiquitin-Conjugating Enzyme E2 G12
Ubiquitin Carrier Protein G12 3     

External Ids:    HGNC: 124821   Entrez Gene: 73262   Ensembl: ENSG000001323887   OMIM: 6015695   UniProtKB: P622533   

Export aliases for UBE2G1 gene to outside databases

Previous GC identifers: GC17M004492 GC17M004124 GC17M004380 GC17M004061


(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 UBE2G1 Gene:
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or
short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes:
ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or
E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent
attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific
proteins. (provided by RefSeq, Jul 2008)

GeneCards Summary for UBE2G1 Gene:
UBE2G1 (ubiquitin-conjugating enzyme E2G 1) is a protein-coding gene. Diseases associated with UBE2G1 include cri-du-chat syndrome, and machado-joseph disease. GO annotations related to this gene include ubiquitin-protein ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is UBE2G2.

UniProtKB/Swiss-Prot: UB2G1_HUMAN, P62253
Function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro
catalyzes 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of
muscle-specific proteins. Mediates polyubiquitination of CYP3A4

Gene Wiki entry for UBE2G1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the UBE2G1 gene promoter:
         Pax-5   MyoD   LCR-F1   Roaz   Arnt   AREB6   POU2F1   POU2F1a   Pax-4a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBE2G1 promoter sequence
   Search Chromatin IP Primers for UBE2G1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBE2G1


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

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

UBE2G1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBE2G1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M004120:  view genomic region     (about GC identifiers)

Start:
4,172,512 bp from pter      End:
4,269,969 bp from pter
Size:
97,458 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: UB2G1_HUMAN, P62253 (See protein sequence)
Recommended Name: Ubiquitin-conjugating enzyme E2 G1  
Size: 170 amino acids; 19509 Da
Sequence caution: Sequence=AAH26288.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for UBE2G1:
2AWF (3D)    
Secondary accessions: B2R7P2 D3DTK0 Q99462

Explore the universe of human proteins at neXtProt for UBE2G1: NX_P62253

Explore proteomics data for UBE2G1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys63, Lys73, Lys101, Lys163
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for UBE2G1 (P62253)
     VCISILH  FPKDYPL  DSPANVDAAK  GPPDTLYEGG 


    See UBE2G1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003333.1  
    ENSEMBL proteins: 
     ENSP00000380178   ENSP00000459691   ENSP00000458253   ENSP00000459847   ENSP00000467502  
     ENSP00000459485  
    Reactome Protein details: P62253

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    Sino Biological Recombinant Protein for UBE2G1
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBE2: Ubiquitin-conjugating enzymes E2

    3 InterPro protein domains:
     IPR023313 UBQ-conjugating_AS
     IPR000608 UBQ-conjugat_E2
     IPR016135 UBQ-conjugating_enzyme/RWD

    Graphical View of Domain Structure for InterPro Entry P62253

    ProtoNet protein and cluster: P62253

    1 Blocks protein domain: IPB000608 Ubiquitin-conjugating enzymes

    UniProtKB/Swiss-Prot: UB2G1_HUMAN, P62253
    Similarity: Belongs to the ubiquitin-conjugating enzyme family


    UBE2G1 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: UB2G1_HUMAN, P62253
    Function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro
    catalyzes 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of
    muscle-specific proteins. Mediates polyubiquitination of CYP3A4
    Catalytic activity: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine

         Genatlas biochemistry entry for UBE2G1:
    ubiquitin conjugating enzyme E2G,highly homolog to C elegans UBC7,highly expressed in skeletal muscle

         Enzyme Number (IUBMB): EC 6.3.2.191 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005524ATP binding IEA--
    GO:0016881acid-amino acid ligase activity ----
    GO:0031625ubiquitin protein ligase binding IPI15673284
         
    UBE2G1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UBE2G1:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBE2G1
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    miRTarBase miRNAs that target UBE2G1:
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    Block miRNA regulation of human, mouse, rat UBE2G1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBE2G1 (see all 122):
    hsa-miR-582-3p hsa-miR-1245 hsa-miR-1258 hsa-miR-30d hsa-miR-3161 hsa-miR-30a hsa-miR-3622b-3p hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE2G1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum2
    nucleus2
    plasma membrane2
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA19056867

    UBE2G1 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 UBE2G1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    4Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    5Remodeling of Adherens Junctions
    Remodeling of Adherens Junctions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBE2G1
        Ubiquitin-Proteasome Dependent Proteolysis
    Remodeling of Adherens Junctions

    1 GeneGo (Thomson Reuters) Pathway for UBE2G1
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    2 BioSystems Pathways for UBE2G1
        Parkin-Ubiquitin Proteasomal System pathway
    Parkinsons Disease Pathway


    1 Reactome Pathway for UBE2G1
        Antigen processing: Ubiquitination & Proteasome degradation


    3 Kegg Pathways  (Kegg details for UBE2G1):
        Ubiquitin mediated proteolysis
    Protein processing in endoplasmic reticulum
    Parkinson's disease

    UniProtKB/Swiss-Prot: UB2G1_HUMAN, P62253
    Pathway: Protein modification; protein ubiquitination


    UBE2G1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including UBE2G1: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UBE2G1

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

    Selected Interacting proteins for UBE2G1 (P622533 ENSP000003801784) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARK2O602603, ENSP000003558654I2D: score=3 STRING: ENSP00000355865
    RBCK1Q9BYM83, ENSP000003486324I2D: score=2 STRING: ENSP00000348632
    UBE3AQ050863, ENSP000003810454I2D: score=2 STRING: ENSP00000381045
    AMFRQ9UKV53, ENSP000002906494I2D: score=1 STRING: ENSP00000290649
    CBLP226813, ENSP000002640334I2D: score=1 STRING: ENSP00000264033
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process TAS8893823
    GO:0070534protein K63-linked ubiquitination IDA--
    GO:0070936protein K48-linked ubiquitination IDA--

    UBE2G1 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
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    Browse Tocris compounds for UBE2G1 (UB2G1)

    4 HMDB Compounds for UBE2G1    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--



    (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 UBE2G1 gene (2 alternative transcripts): 
    NM_003342.4  NM_182682.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396981(uc002fxs.3) ENST00000572484 ENST00000574633 ENST00000571980
    ENST00000571953 ENST00000574059
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    Selected qRT-PCR Assays for microRNAs that regulate UBE2G1 (see all 122):
    hsa-miR-582-3p hsa-miR-1245 hsa-miR-1258 hsa-miR-30d hsa-miR-3161 hsa-miR-30a hsa-miR-3622b-3p hsa-miR-3613-3p
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    Selected AceView cDNA sequences (see all 350):

    AA789079 Z38529 AA149306 AI627437 NM_182682 BX280781 AI928773 AI358757 
    AW973639 AI369063 AI091026 CB051447 AW016088 BE018516 BM723498 AW008557 
    AA721173 AA760719 BM474017 AW501149 AA554136 CB215969 BE886985 AW954132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBE2G1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for UBE2G1

    (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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    UBE2G1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATGAGTGC
    UBE2G1 Expression
    About this image

    UBE2G1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBE2G1 Protein Expression

    UniProtKB/Swiss-Prot: UB2G1_HUMAN, P62253
    Tissue specificity: Widely expressed, mainly in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including UBE2G1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE2G1

    (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 eukaryotes.

    Orthologs for UBE2G1 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ube2g11 , 5 ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. more5
    ubiquitin-conjugating enzyme E2G 11
    95.29(n)1
    100(a)1
      11 (44.42 cM)5
    671281  NM_025985.41  NP_080261.21 
     726072835 
    chicken
    (Gallus gallus)
    Aves UBE2G11 ubiquitin-conjugating enzyme E2G 1 88.63(n)
    100(a)
      770961  NM_001080883.1  NP_001074352.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBE2G16
    ubiquitin-conjugating enzyme E2G 1
    94(a)
    1 ↔ 1
    GL343393.1(315957-321522)
    African clawed frog
    (Xenopus laevis)
    Amphibia ube2g1-prov2 ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. more 86.94(n)    BC047985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi33c042 wufi33c04 85.16(n)   334133  BC045512.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96023
    CG400451
    ubiquitin-protein ligase3
    CG400451
    77(a)3
    74.34(n)1
    84.24(a)1
      87F123
    33550791  NM_001043175.21  NP_001036640.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ubc-73 Ubiquitin conjugating enzyme 74(a)   III(9701985-9702983)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBC76
    Ubiquitin conjugating enzyme, involved in the ER-a...
    50(a)
    1 → many
    XIII(318680-319177) YMR022W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UBC131 UBC13 64.6(n)
    63.98(a)
      823796  NM_114513.5  NP_566884.1 
    rice
    (Oryza sativa)
    Liliopsida Os.126032 Oryza sativa (japonica cultivar-group) cDNA clone0 more 71.66(n)    AK104148.1 


    ENSEMBL Gene Tree for UBE2G1 (if available)
    TreeFam Gene Tree for UBE2G1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBE2G1 gene
    UBE2G22  CDC342  UBE2R22  
    Selected SIMAP similar genes for UBE2G1 using alignment to 5 protein entries:     UB2G1_HUMAN (see all proteins) (see all similar genes):
    UBE2G2    CDC34    UBE2R2    DKFZp586L2318    UBE2N    UBE2D3
    UBE2A    UBE2D1    UBE2B    HR6A    UBE2U    UBE2D4
    UBE2F    UBE2E2    UBE2E1    UBE2K    UBE2E3    UBE2L3

    UBE2G1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UBE2G1
    PGOHUM00000245254


    (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 UBE2G1 (see all 2024)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs47906021,2
    C,F,A,H--4172117(+) TAACTG/TACTAA 1 -- ds500110Minor allele frequency- T:0.47NA WA EA 372
    rs1910277621,2
    --4172146(+) TTGGCA/GCATTT 1 -- ds50010--------
    rs1819632461,2
    C--4172156(+) TTCCCA/GTCTGT 1 -- ds50010--------
    rs1126986571,2
    C--4172167(+) TTAGAG/-GACAG 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1471486961,2
    C--4172369(+) GCCACA/GTACTG 1 -- ds50010--------
    rs1866376491,2
    --4172466(+) CTGTGC/GTTCCT 1 -- ds50010--------
    rs1923613311,2
    --4172550(+) AGCTCA/GTGATA 1 -- ut310--------
    rs1838092091,2
    --4172558(+) ATACAG/TCCTCT 1 -- ut310--------
    rs1869676541,2
    --4172560(+) ACAGCC/TTCTAA 1 -- ut310--------
    rs1898073291,2
    --4172567(+) CTAAGA/TCATCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for UBE2G1 (4172512 - 4269969 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for UBE2G1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715552CNV Deletion23290073
    esv2660255CNV Deletion23128226
    nsv821134CNV Duplication20802225
    nsv833345CNV Loss17160897
    dgv509n67CNV Loss20364138
    nsv907592CNV Gain21882294
    dgv3046n71CNV Gain21882294
    nsv907588CNV Gain21882294
    nsv515940CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBE2G1
    DNA2.0 Custom Variant and Variant Library Synthesis for UBE2G1

    (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: 601569    OMIM disorders: --

    6 diseases for UBE2G1:    
    About MalaCards
    cri-du-chat syndrome    machado-joseph disease    papilloma    parkinson's disease
    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for UBE2G1:
    Cri-Du-Chat syndrome

    UBE2G1 for disorders           About GeneDecksing


    Export disorders for UBE2G1 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 UBE2G1 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with UBE2G1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of UBE2G, encoding a human skeletal muscle-specific ubiquitin-conjugating enzyme homologous to UBC7 of C. elegans. (PubMed id 8893823)1, 2, 3 Watanabe T.K.... Takahashi E. (Cytogenet. Cell Genet. 1996)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    4. Endoplasmic reticulum-associated degradation of the human type 2 iodothyronine deiodinase (D2) is mediated via an association between mammalian UBC7 and the carboxyl region of D2. (PubMed id 12933904)1, 9 Kim B.W....Bianco A.C. (Mol. Endocrinol. 2003)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. The E3 ubiquitin ligase ITCH negatively regulates canonical Wnt signaling by targeting dishevelled protein. (PubMed id 22826439)1 Wei W....Li L. (Mol. Cell. Biol. 2012)
    10. F-box protein FBXL2 targets cyclin D2 for ubiquitination and degradation to inhibit leukemic cell proliferation. (PubMed id 22323446)1 Chen B.B.... Mallampalli R.K. (Blood 2012)

    (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: 7326 HGNC: 12482 AceView: UBE2G1 Ensembl:ENSG00000132388 euGenes: HUgn7326
    ECgene: UBE2G1 Kegg: 7326 H-InvDB: UBE2G1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for UBE2G1 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 UBE2G1 gene:
    Search GeneIP for patents involving UBE2G1

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



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