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UBE2E1 ubiquitin conjugating enzyme E2 E1 [ Homo sapiens (human) ]

Gene ID: 7324, updated on 2-Nov-2024

Summary

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Official Symbol
UBE2E1provided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 E1provided by HGNC
Primary source
HGNC:HGNC:12477
See related
Ensembl:ENSG00000170142 MIM:602916; AllianceGenome:HGNC:12477
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UBCH6
Summary
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. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in lymph node (RPKM 26.5), brain (RPKM 25.3) and 25 other tissues See more
Orthologs
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Genomic context

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See UBE2E1 in Genome Data Viewer
Location:
3p24.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (23805955..23891640)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (23810731..23896417)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (23847446..23933131)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376993 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:23696236-23696419 Neighboring gene uncharacterized LOC124909353 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:23709558-23710757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:23712993-23713494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:23713495-23713994 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:23743503-23744115 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23801884-23802520 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23802521-23803157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14144 Neighboring gene UBE2E1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19605 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23906443-23907202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23924271-23924855 Neighboring gene ARF like GTPase 4A pseudogene 4 Neighboring gene NFKB inhibitor interacting Ras like 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:23958136-23959335 Neighboring gene uncharacterized LOC124909354 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:23987327-23987868 Neighboring gene ribosomal protein L15

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. Microarray-based analysis and clinical validation identify ubiquitin-conjugating enzyme E2E1 (UBE2E1) as a prognostic factor in acute myeloid leukemia. Luo H, et al. J Hematol Oncol, 2016 Nov 17. PMID 27855695, Free PMC Article
  2. Mechanisms underlying ubiquitination. Pickart CM. Annu Rev Biochem, 2001. PMID 11395416
  3. The structure and conformation of Lys63-linked tetraubiquitin. Datta AB, et al. J Mol Biol, 2009 Oct 9. PMID 19664638, Free PMC Article
  4. The ubiquitin-conjugating enzyme UbcH6 regulates the transcriptional repression activity of the SCA1 gene product ataxin-1. Lee S, et al. Biochem Biophys Res Commun, 2008 Aug 8. PMID 18519031
  5. Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy. Balak CD, et al. F1000Res, 2017. PMID 29034082, Free PMC Article

See all (161) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. found that critical UBE2E1 residues involved in the capture of the TRIM21 substrate lysine are conserved in ubiquitin-conjugating E2s, whereas residues critical for SUMOylation are not conserved
    Title: E3 ubiquitin-protein ligase TRIM21-mediated lysine capture by UBE2E1 reveals substrate-targeting mode of a ubiquitin-conjugating E2.
  2. OTUB1 depletion dramatically destabilizes the E2-conjugating enzyme UBE2E1 in both mouse and human OTUB1 knockout cell lines.
    Title: OTUB1 non-catalytically stabilizes the E2 ubiquitin-conjugating enzyme UBE2E1 by preventing its autoubiquitination.
  3. UBE2E1 expression was adversely correlated with AML survival; UBE2E1 expression was negatively correlated with patients' response to induction chemotherapy
    Title: Microarray-based analysis and clinical validation identify ubiquitin-conjugating enzyme E2E1 (UBE2E1) as a prognostic factor in acute myeloid leukemia.
  4. IPO11 provides protection in another way, the researchers found. The transport receptor also shuttles UBE2E1, an enzyme necessary for PTEN ubiquitination, into the nucleus. Thanks to IPO11, normal cells keep all of their UBE2E1 in the nucleus, allowing PTEN to continue functioning in the cytoplasm. In cells lacking IPO11, UBE2E1 remains in the cytoplasm and promotes the destruction of PTEN.
    Title: Protecting PTEN in the Nucleus.
  5. study reveals that UbE2E1 is an in vivo E2 for the PRC1 ligase complex and thus plays an important role in the regulation of H2A Lys-119 monoubiquitination
    Title: UbE2E1/UBCH6 Is a Critical in Vivo E2 for the PRC1-catalyzed Ubiquitination of H2A at Lys-119.
  6. Auto-ubiquitination of Ube2E1 is intramolecular.RNF4 enhances Ube2E1 self-ubiquitination.
    Title: RING E3-Catalyzed E2 Self-Ubiquitination Attenuates the Activity of Ube2E Ubiquitin-Conjugating Enzymes.
  7. USP7 is critical in maintaining the steady state levels of UbE2E1 in cells.
    Title: Ubiquitin-specific protease 7 is a regulator of ubiquitin-conjugating enzyme UbE2E1.
  8. Smallangle X-ray scattering experiments show that the Lys63 tetra-Ub chain is dynamic in solution, adopting an ensemble of conformations that are more compact than the extended form in the crystal.
    Title: The structure and conformation of Lys63-linked tetraubiquitin.
  9. isolated ISG15-modified and unmodified UbcH6 proteins, and analyzed their abilities to form thioester intermediates with ubiquitin
    Title: Link between the ubiquitin conjugation system and the ISG15 conjugation system: ISG15 conjugation to the UbcH6 ubiquitin E2 enzyme.
  10. E1 ligase of the proteasome is inhibitd by ziram and has a role in preventing dopaminergic cell damage
    Title: Ziram causes dopaminergic cell damage by inhibiting E1 ligase of the proteasome.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
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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Replication interactions

Interaction Pubs
Knockdown of ubiquitin-conjugating enzyme E2E 1 (UBE2E1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ISG15 transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ISG15 transferase activity IDA
Inferred from Direct Assay
more info
 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 transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ISG15-protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ISG15-protein conjugation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ubiquitin-conjugating enzyme E2 E1
Names
(E3-independent) E2 ubiquitin-conjugating enzyme E1
E2 ubiquitin-conjugating enzyme E1
ubiquitin carrier protein E1
ubiquitin conjugating enzyme E2E 1
ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)
ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)
ubiquitin-protein ligase E1
NP_001189405.1
NP_003332.1
NP_872607.1
XP_005265488.1
XP_054203712.1

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_001202476.2 → NP_001189405.1  ubiquitin-conjugating enzyme E2 E1 isoform 3

    See identical proteins and their annotated locations for NP_001189405.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons from the 5' end and has an alternate 5' exon, as comapred to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC124914, DB499676
    Consensus CDS
    CCDS56244.1
    UniProtKB/TrEMBL
    H7C061
    Related
    ENSP00000411351.1, ENST00000424381.5
    Conserved Domains (1) summary
    pfam00179
    Location:18 → 155
    UQ_con; Ubiquitin-conjugating enzyme

  2. NM_003341.5 → NP_003332.1  ubiquitin-conjugating enzyme E2 E1 isoform 1

    See identical proteins and their annotated locations for NP_003332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC124914, AK314854, DB478686
    Consensus CDS
    CCDS2638.1
    UniProtKB/Swiss-Prot
    B2RBX4, C9J8K2, K4DI90, P51965
    Related
    ENSP00000303709.3, ENST00000306627.8
    Conserved Domains (1) summary
    pfam00179
    Location:51 → 188
    UQ_con; Ubiquitin-conjugating enzyme

  3. NM_182666.3 → NP_872607.1  ubiquitin-conjugating enzyme E2 E1 isoform 2

    See identical proteins and their annotated locations for NP_872607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon and thus encodes a shorter isoform (2), as compared to variant 1.
    Source sequence(s)
    AC124914, BC009139, BI223271, DB478686
    Consensus CDS
    CCDS2639.1
    UniProtKB/Swiss-Prot
    P51965
    Related
    ENSP00000329113.4, ENST00000346855.7
    Conserved Domains (1) summary
    pfam00179
    Location:51 → 171
    UQ_con; Ubiquitin-conjugating enzyme

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    23805955..23891640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265431.6 → XP_005265488.1  ubiquitin-conjugating enzyme E2 E1 isoform X1

    See identical proteins and their annotated locations for XP_005265488.1

    UniProtKB/TrEMBL
    B7Z306
    Related
    ENSP00000475890.1, ENST00000467766.5
    Conserved Domains (1) summary
    pfam00179
    Location:18 → 128
    UQ_con; Ubiquitin-conjugating enzyme

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    23810731..23896417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347737.1 → XP_054203712.1  ubiquitin-conjugating enzyme E2 E1 isoform X1

    UniProtKB/TrEMBL
    B7Z306
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51965.1 GenPept UniProtKB/Swiss-Prot:P51965

Gene LinkOut

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