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UBE2L3 ubiquitin conjugating enzyme E2 L3 [ Homo sapiens (human) ]

Gene ID: 7332, updated on 4-Jan-2025

Summary

Official Symbol
UBE2L3provided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 L3provided by HGNC
Primary source
HGNC:HGNC:12488
See related
Ensembl:ENSG00000185651 MIM:603721; AllianceGenome:HGNC:12488
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
E2-F1; L-UBC; UBCH7; UbcM4
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 (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in brain (RPKM 19.5), urinary bladder (RPKM 19.0) and 25 other tissues See more
Orthologs
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Genomic context

See UBE2L3 in Genome Data Viewer
Location:
22q11.21
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21549447..21624034)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21962924..22037518)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21903736..21978323)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small Cajal body-specific RNA 18 Neighboring gene RN7SK pseudogene 221 Neighboring gene RIMS binding protein 3C Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21908512-21908665 Neighboring gene Sharpr-MPRA regulatory region 10827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21914232-21914792 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21920997-21921184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21945023-21945836 Neighboring gene VISTA enhancer hs2026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21977501-21978034 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21979673-21979941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21982145-21982752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21986781-21987280 Neighboring gene YdjC chitooligosaccharide deacetylase homolog Neighboring gene coiled-coil domain containing 116

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Items 1 - 10 of 13
Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
EBI GWAS Catalog
Multiple common variants for celiac disease influencing immune gene expression.
EBI GWAS Catalog
New loci associated with chronic hepatitis B virus infection in Han Chinese.
EBI GWAS Catalog
Seventy-five genetic loci influencing the human red blood cell.
EBI GWAS Catalog
Items 1 - 10 of 13

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ubiquitin-conjugating enzyme E2L 3 (UBE2L3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef In the presence of Nef, lipid raft Cdc42 is activated and forms a ternary complex between the c-Cbl-interacting protein p85Cool-1/betaPix and c-Cbl, displacing UbcH7 from rafts PubMed
nef HIV-1 Nef excludes E2 ubiquitin-conjugating enzyme UbcH7, which acts in conjunction with c-Cbl, from lipid rafts in CD4 T cells; this Nef-mediated exclusion is associated with failure of ubiquitination of activated Vav PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell cycle phase transition PubMed 
involved_in cell population proliferation PubMed 
involved_in cellular response to glucocorticoid stimulus PubMed 
involved_in cellular response to steroid hormone stimulus PubMed 
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of protein targeting to mitochondrion PubMed 
involved_in positive regulation of protein ubiquitination PubMed 
involved_in positive regulation of ubiquitin-protein transferase activity PubMed 
involved_in protein K11-linked ubiquitination  
involved_in protein K11-linked ubiquitination PubMed 
involved_in protein modification process PubMed 
involved_in protein polyubiquitination PubMed 
involved_in protein ubiquitination PubMed 
involved_in regulation of DNA-templated transcription PubMed 
involved_in regulation of DNA-templated transcription PubMed 
involved_in ubiquitin-dependent protein catabolic process  
involved_in ubiquitin-dependent protein catabolic process PubMed 
Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in cytosol  
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
part_of ubiquitin ligase complex PubMed 

General protein information

Preferred Names
ubiquitin-conjugating enzyme E2 L3
Names
E2 ubiquitin-conjugating enzyme L3
ubiquitin carrier protein L3
ubiquitin conjugating enzyme E2L 3
ubiquitin-conjugating enzyme E2-F1
ubiquitin-conjugating enzyme UBCH7
ubiquitin-protein ligase L3
NP_001243284.1
NP_001243285.1
NP_003338.1

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_001256355.1NP_001243284.1  ubiquitin-conjugating enzyme E2 L3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AJ000519, AK299985
    Consensus CDS
    CCDS58795.1
    UniProtKB/Swiss-Prot
    P68036
    Related
    ENSP00000400906.2, ENST00000458578.6
    Conserved Domains (2) summary
    smart00212
    Location:67207
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    COG5078
    Location:67208
    COG5078; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001256356.2NP_001243285.1  ubiquitin-conjugating enzyme E2 L3 isoform 3

    See identical proteins and their annotated locations for NP_001243285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' splice site, lacks an alternate exon, and initiates translation from a downstream start site, compared to variant 4. It encodes a shorter and distinct N-terminus in isoform 3, compared to isoform 4.
    Source sequence(s)
    AJ000519, AK293179, BU584304
    Consensus CDS
    CCDS58796.1
    UniProtKB/Swiss-Prot
    P68036
    Related
    ENSP00000445931.1, ENST00000545681.2
    Conserved Domains (1) summary
    pfam00179
    Location:9112
    UQ_con; Ubiquitin-conjugating enzyme
  3. NM_003347.4NP_003338.1  ubiquitin-conjugating enzyme E2 L3 isoform 1

    See identical proteins and their annotated locations for NP_003338.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate 5' splice site and downstream translational start site, compared to variant 4. It encodes a shorter and distinct N-terminus in isoform 1, compared to isoform 4.
    Source sequence(s)
    AJ000519, BU584304
    Consensus CDS
    CCDS13790.1
    UniProtKB/Swiss-Prot
    B2R4A7, B4DDG1, B4DSZ4, E7EWS7, P51966, P68036, P70653, Q9HAV1
    UniProtKB/TrEMBL
    A8K4W8
    Related
    ENSP00000344259.5, ENST00000342192.9
    Conserved Domains (1) summary
    smart00212
    Location:6149
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

RNA

  1. NR_028436.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ000519, BU567707, BU584304
  2. NR_046082.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon, compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ000519, AK125396, AP000558
    Related
    ENST00000496722.1

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    21549447..21624034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    21962924..22037518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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