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    UBE2O ubiquitin conjugating enzyme E2 O [ Homo sapiens (human) ]

    Gene ID: 63893, updated on 3-Nov-2024

    Summary

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    Official Symbol
    UBE2Oprovided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 Oprovided by HGNC
    Primary source
    HGNC:HGNC:29554
    See related
    Ensembl:ENSG00000175931 MIM:617649; AllianceGenome:HGNC:29554
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E2-230K
    Summary
    Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase activity. Involved in positive regulation of BMP signaling pathway; protein ubiquitination; and retrograde transport, endosome to Golgi. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 12.9), testis (RPKM 11.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See UBE2O in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76389456..76453152, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77286031..77349733, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74385537..74449234, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphoribosyl pyrophosphate synthetase associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74346967-74347514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9012 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74349963-74350827 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 43 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74364234-74364734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74364735-74365235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9015 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74386817-74386991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74394983-74395483 Neighboring gene sphingosine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74418617-74419118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74419119-74419618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74429943-74430443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74432809-74433310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74437133-74437650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12806 Neighboring gene ribosomal protein L7 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9016 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74449240-74449408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12808 Neighboring gene aralkylamine N-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74469380-74469890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9020 Neighboring gene Sharpr-MPRA regulatory region 10531 Neighboring gene MPRA-validated peak3008 silencer Neighboring gene rhomboid 5 homolog 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74487839-74488704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74496763-74497432

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification, tissue expression, and chromosomal position of a novel gene encoding human ubiquitin-conjugating enzyme E2-230k. Yokota T, et al. Gene, 2001 Apr 4. PMID 11311559
    2. UBE2O promotes hepatocellular carcinoma cell proliferation and invasion by regulating the AMPKα2/mTOR pathway. Shi Z, et al. Int J Med Sci, 2021. PMID 34790050, Free PMC Article
    3. UBE2O is a quality control factor for orphans of multiprotein complexes. Yanagitani K, et al. Science, 2017 Aug 4. PMID 28774922, Free PMC Article
    4. High Level of Ubiquitin Conjugate Enzyme E2O Indicates Poor Prognosis of Patients with Hepatocellular Carcinoma. Lan SY, et al. Curr Med Sci, 2023 Feb. PMID 36269535
    5. UBE2O promotes the proliferation, EMT and stemness properties of breast cancer cells through the UBE2O/AMPKα2/mTORC1-MYC positive feedback loop. Liu X, et al. Cell Death Dis, 2020 Jan 6. PMID 31907353, Free PMC Article

    See all (139) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Age-Associated UBE2O Reduction Promotes Neuronal Death in Alzheimer's Disease.
      Title: Age-Associated UBE2O Reduction Promotes Neuronal Death in Alzheimer's Disease.
    2. High Level of Ubiquitin Conjugate Enzyme E2O Indicates Poor Prognosis of Patients with Hepatocellular Carcinoma.
      Title: High Level of Ubiquitin Conjugate Enzyme E2O Indicates Poor Prognosis of Patients with Hepatocellular Carcinoma.
    3. Mechanism of client selection by the protein quality-control factor UBE2O.
      Title: Mechanism of client selection by the protein quality-control factor UBE2O.
    4. UBE2O promotes hepatocellular carcinoma cell proliferation and invasion by regulating the AMPKalpha2/mTOR pathway.
      Title: UBE2O promotes hepatocellular carcinoma cell proliferation and invasion by regulating the AMPKα2/mTOR pathway.
    5. UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.
      Title: UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.
    6. UBE2O targets Mxi1 for ubiquitination and degradation to promote lung cancer progression and radioresistance.
      Title: UBE2O targets Mxi1 for ubiquitination and degradation to promote lung cancer progression and radioresistance.
    7. Saliva exosomes-derived UBE2O mRNA promotes angiogenesis in cutaneous wounds by targeting SMAD6.
      Title: Saliva exosomes-derived UBE2O mRNA promotes angiogenesis in cutaneous wounds by targeting SMAD6.
    8. UBE2O promotes the proliferation, EMT and stemness properties of breast cancer cells through the UBE2O/AMPKalpha2/mTORC1-MYC positive feedback loop.
      Title: UBE2O promotes the proliferation, EMT and stemness properties of breast cancer cells through the UBE2O/AMPKα2/mTORC1-MYC positive feedback loop.
    9. Study found that UBE2O is markedly upregulated in obese subjects with type 2 diabetes.
      Title: A muscle-specific UBE2O/AMPKα2 axis promotes insulin resistance and metabolic syndrome in obesity.
    10. UBE2O directly mediates the ubiquitination of many substrates, including AMPKalpha2, BAP1, MLL protein SMAD6, c-Maf, ARNTL, and free ribosomal proteins. UBE2O is frequently amplified or mutated in multiple cancers, and its high expression is associated with low survival rate of gastric, lung, breast, and prostate cancer patients. Review.
      Title: Diverse roles of the E2/E3 hybrid enzyme UBE2O in the regulation of protein ubiquitination, cellular functions, and disease onset.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat is identified to have a physical interaction with ubiquitin-conjugating enzyme E2O (UBE2O) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12878, KIAA1734

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin conjugating enzyme activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K63-linked ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    (E3-independent) E2 ubiquitin-conjugating enzyme
    Names
    E2/E3 hybrid ubiquitin-protein ligase UBE2O
    ubiquitin carrier protein O
    ubiquitin conjugating enzyme E2O
    ubiquitin-conjugating enzyme E2 of 230 kDa
    ubiquitin-conjugating enzyme E2-230K
    ubiquitin-protein ligase O
    NP_071349.3
    XP_005257624.1
    XP_016880424.1
    XP_024306633.1
    XP_024306634.1
    XP_024306635.1
    XP_047292473.1
    XP_047292474.1
    XP_054172853.1
    XP_054172854.1
    XP_054172855.1
    XP_054172856.1
    XP_054172857.1
    XP_054172858.1
    XP_054172859.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022066.4 → NP_071349.3  (E3-independent) E2 ubiquitin-conjugating enzyme

      See identical proteins and their annotated locations for NP_071349.3

      Status: VALIDATED

      Source sequence(s)
      AB051521, AC090699, BC025977, DA092358
      Consensus CDS
      CCDS32742.1
      UniProtKB/Swiss-Prot
      A6NDU5, Q69YP4, Q6PIZ2, Q86UA4, Q8N425, Q8TBN1, Q9BSW1, Q9C0C9, Q9H6E6, Q9H7E4, Q9H9B2
      Related
      ENSP00000323687.6, ENST00000319380.12
      Conserved Domains (1) summary
      cd00195
      Location:958 → 1108
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76389456..76453152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024935.2 → XP_016880424.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X7

    2. XM_047436518.1 → XP_047292474.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X6

    3. XM_005257567.2 → XP_005257624.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X5

      See identical proteins and their annotated locations for XP_005257624.1

      Conserved Domains (1) summary
      cd00195
      Location:959 → 1109
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    4. XM_047436517.1 → XP_047292473.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X4

    5. XM_024450867.2 → XP_024306635.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X3

      Conserved Domains (1) summary
      cd00195
      Location:970 → 1120
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    6. XM_024450866.2 → XP_024306634.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X2

      Conserved Domains (1) summary
      cd00195
      Location:994 → 1144
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    7. XM_024450865.2 → XP_024306633.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X1

      Conserved Domains (1) summary
      cd00195
      Location:995 → 1145
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77286031..77349733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316884.1 → XP_054172859.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X7

    2. XM_054316883.1 → XP_054172858.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X6

    3. XM_054316882.1 → XP_054172857.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X5

    4. XM_054316881.1 → XP_054172856.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X4

    5. XM_054316880.1 → XP_054172855.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X3

    6. XM_054316879.1 → XP_054172854.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X2

    7. XM_054316878.1 → XP_054172853.1  (E3-independent) E2 ubiquitin-conjugating enzyme isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0C9.3 GenPept UniProtKB/Swiss-Prot:Q9C0C9

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