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

Gene ID: 148581, updated on 11-Apr-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 ubiquitin conjugating enzyme activity. Predicted to be involved in DNA repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Predicted to be part of HULC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 8.1) See more
Orthologs
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Genomic context

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Location:
1p31.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64203623..64267368)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64078756..64143219)
105.20220307 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 (17) 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)

Genotypes

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 IEA
Inferred from Electronic Annotation
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_2023_10

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/TrEMBL
    A0A0A0MRP4

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

  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

  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

  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

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