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    UBE2U ubiquitin conjugating enzyme E2 U [ Homo sapiens (human) ]

    Gene ID: 148581, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UBE2Uprovided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 Uprovided by HGNC
    Primary source
    HGNC:HGNC:28559
    See related
    Ensembl:ENSG00000177414 AllianceGenome:HGNC:28559
    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
    Summary
    Predicted to enable ATP binding activity and ubiquitin conjugating enzyme activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 8.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See UBE2U in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64203623..64267368)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64078756..64143219)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (64669306..64733051)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene receptor tyrosine kinase like orphan receptor 1 Neighboring gene ROR1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:64620864-64621414 Neighboring gene uncharacterized LOC105378773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:64661738-64662238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:64662239-64662739 Neighboring gene Sharpr-MPRA regulatory region 11272 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:64728314-64729513 Neighboring gene NANOG hESC enhancer GRCh37_chr1:64815627-64816202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:64824433-64824932 Neighboring gene uncharacterized LOC105378774 Neighboring gene U7 small nuclear RNA Neighboring gene RNA, U7 small nuclear 62 pseudogene

    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
    • 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. Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation. Doucette LP, et al. Eur J Hum Genet, 2021 Aug. PMID 33776059, Free PMC Article
    2. UBC13 is an RNF213-associated E2 ubiquitin-conjugating enzyme, and Lysine 63-linked ubiquitination by the RNF213-UBC13 axis is responsible for angiogenic activity. Habu T, et al. FASEB Bioadv, 2021 Apr. PMID 33842849, Free PMC Article
    3. An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168. Guo Y, et al. J Biol Chem, 2017 Jan 20. PMID 27903633, Free PMC Article
    4. Cbl interacts with multiple E2s in vitro and in cells. Liyasova MS, et al. PLoS One, 2019. PMID 31120930, Free PMC Article
    5. A human ubiquitin conjugating enzyme (E2)-HECT E3 ligase structure-function screen. Sheng Y, et al. Mol Cell Proteomics, 2012 Aug. PMID 22496338, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
      Title: Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
    2. Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses.
      Title: An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC35130

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of HULC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-conjugating enzyme E2 U
    Names
    E2 ubiquitin-conjugating enzyme U
    testicular tissue protein Li 216
    ubiquitin carrier protein U
    ubiquitin conjugating enzyme E2 U (putative)
    ubiquitin conjugating enzyme E2U (putative)
    ubiquitin-protein ligase U
    NP_001353161.1
    NP_001353162.1
    NP_001353163.1
    NP_001353164.1
    NP_689702.1
    XP_006710442.1
    XP_016855868.1
    XP_016855869.1
    XP_016855870.1
    XP_016855871.1
    XP_016855872.1
    XP_016855873.1
    XP_054190564.1
    XP_054190565.1
    XP_054190566.1
    XP_054190567.1
    XP_054190568.1
    XP_054190569.1
    XP_054190570.1
    XP_054190571.1

    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_001366232.2 → NP_001353161.1  ubiquitin-conjugating enzyme E2 U isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL161916, AL445205
      Consensus CDS
      CCDS90966.1
      UniProtKB/Swiss-Prot
      Q5VVX9, Q8N1D4
      UniProtKB/TrEMBL
      A0A0A0MRP4
      Related
      ENSP00000360117.5, ENST00000371077.10
      Conserved Domains (1) summary
      cd00195
      Location:8 → 147
      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 ...

    2. NM_001366233.2 → NP_001353162.1  ubiquitin-conjugating enzyme E2 U isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL161916, AL445205
      UniProtKB/Swiss-Prot
      Q5VVX9, Q8N1D4
      Conserved Domains (1) summary
      cd00195
      Location:8 → 146
      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 ...

    3. NM_001366234.2 → NP_001353163.1  ubiquitin-conjugating enzyme E2 U isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL161916, AL445205
      UniProtKB/Swiss-Prot
      Q5VVX9, Q8N1D4
      Conserved Domains (1) summary
      cd00195
      Location:8 → 147
      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. NM_001366235.1 → NP_001353164.1  ubiquitin-conjugating enzyme E2 U isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL161916, AL445205
      Conserved Domains (1) summary
      cd00195
      Location:8 → 147
      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 ...

    5. NM_152489.3 → NP_689702.1  ubiquitin-conjugating enzyme E2 U isoform 4

      See identical proteins and their annotated locations for NP_689702.1

      Status: VALIDATED

      Source sequence(s)
      AL161916, BC029895, BG773201, BX112562
      Consensus CDS
      CCDS627.1
      UniProtKB/TrEMBL
      A0A140VJY9
      Related
      ENSP00000360116.3, ENST00000371076.7
      Conserved Domains (1) summary
      cd00195
      Location:8 → 147
      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 ...

    RNA

    1. NR_158768.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL161916, AL445205

    2. NR_158769.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL161916, AL445205

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      64203623..64267368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710379.4 → XP_006710442.1  ubiquitin-conjugating enzyme E2 U isoform X1

      UniProtKB/Swiss-Prot
      Q5VVX9, Q8N1D4
      Conserved Domains (1) summary
      cd00195
      Location:1 → 115
      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 ...

    2. XM_017000380.2 → XP_016855869.1  ubiquitin-conjugating enzyme E2 U isoform X2

    3. XM_017000383.2 → XP_016855872.1  ubiquitin-conjugating enzyme E2 U isoform X3

      UniProtKB/TrEMBL
      V9GZ31

    4. XM_017000379.2 → XP_016855868.1  ubiquitin-conjugating enzyme E2 U isoform X2

    5. XM_017000381.2 → XP_016855870.1  ubiquitin-conjugating enzyme E2 U isoform X2

    6. XM_017000384.2 → XP_016855873.1  ubiquitin-conjugating enzyme E2 U isoform X3

      UniProtKB/TrEMBL
      V9GZ31
      Related
      ENSP00000477356.1, ENST00000608020.5

    7. XM_017000382.2 → XP_016855871.1  ubiquitin-conjugating enzyme E2 U isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      64078756..64143219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334589.1 → XP_054190564.1  ubiquitin-conjugating enzyme E2 U isoform X4

      UniProtKB/Swiss-Prot
      Q5VVX9, Q8N1D4
      UniProtKB/TrEMBL
      A0A0A0MRP4

    2. XM_054334590.1 → XP_054190565.1  ubiquitin-conjugating enzyme E2 U isoform X1

      UniProtKB/Swiss-Prot
      Q5VVX9, Q8N1D4

    3. XM_054334592.1 → XP_054190567.1  ubiquitin-conjugating enzyme E2 U isoform X2

    4. XM_054334595.1 → XP_054190570.1  ubiquitin-conjugating enzyme E2 U isoform X3

      UniProtKB/TrEMBL
      V9GZ31

    5. XM_054334591.1 → XP_054190566.1  ubiquitin-conjugating enzyme E2 U isoform X2

    6. XM_054334593.1 → XP_054190568.1  ubiquitin-conjugating enzyme E2 U isoform X2

    7. XM_054334596.1 → XP_054190571.1  ubiquitin-conjugating enzyme E2 U isoform X3

      UniProtKB/TrEMBL
      V9GZ31

    8. XM_054334594.1 → XP_054190569.1  ubiquitin-conjugating enzyme E2 U isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VVX9.1 GenPept UniProtKB/Swiss-Prot:Q5VVX9

    Gene LinkOut

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