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    UBE2L6 ubiquitin conjugating enzyme E2 L6 [ Homo sapiens (human) ]

    Gene ID: 9246, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UBE2L6provided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 L6provided by HGNC
    Primary source
    HGNC:HGNC:12490
    See related
    Ensembl:ENSG00000156587 MIM:603890; AllianceGenome:HGNC:12490
    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
    RIG-B; UBCH8
    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 highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]
    Expression
    Ubiquitous expression in spleen (RPKM 48.8), lymph node (RPKM 38.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBE2L6 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57551662..57567935, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57501830..57518098, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57319135..57335408, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4720 Neighboring gene translocase of inner mitochondrial membrane 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57310876-57311766 Neighboring gene smoothelin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3351 Neighboring gene ribosomal protein S4X pseudogene 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57349879-57350046 Neighboring gene serpin family G member 1

    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. Epigenetic downregulation of the ISG15-conjugating enzyme UbcH8 impairs lipolysis and correlates with poor prognosis in nasopharyngeal carcinoma. Zhou X, et al. Oncotarget, 2015 Dec 1. PMID 26506425, Free PMC Article
    2. Genomic organization of the human ubiquitin-conjugating enzyme gene, UBE2L6 on chromosome 11q12. Ardley HC, et al. Cytogenet Cell Genet, 2000. PMID 10894956
    3. Increased UBE2L6 regulated by type 1 interferon as potential marker in TB. Gao J, et al. J Cell Mol Med, 2021 Dec. PMID 34773365, Free PMC Article
    4. Inhibition of UBE2L6 attenuates ISGylation and impedes ATRA-induced differentiation of leukemic cells. Orfali N, et al. Mol Oncol, 2020 Jun. PMID 31820845, Free PMC Article
    5. Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma. Shibahara M, et al. Anticancer Res, 2023 Aug. PMID 37500176

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma.
      Title: Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma.
    2. Increased UBE2L6 regulated by type 1 interferon as potential marker in TB.
      Title: Increased UBE2L6 regulated by type 1 interferon as potential marker in TB.
    3. Inhibition of UBE2L6 attenuates ISGylation and impedes ATRA-induced differentiation of leukemic cells.
      Title: Inhibition of UBE2L6 attenuates ISGylation and impedes ATRA-induced differentiation of leukemic cells.
    4. UBE2L6 is Involved in Cisplatin Resistance by Regulating the Transcription of ABCB6.
      Title: UBE2L6 is Involved in Cisplatin Resistance by Regulating the Transcription of ABCB6.
    5. An integrative analysis identifying transcriptional features and key genes involved in COVID-19.
      Title: An integrative analysis identifying transcriptional features and key genes involved in COVID-19.
    6. TNF-alpha, similar to the response by IFN-beta, could directly induce expression of ISG15 and its conjugation machinery, UbE1L and UbcH8, in human lung carcinoma.
      Title: Up-regulation of interferon-stimulated gene 15 and its conjugation machinery, UbE1L and UbcH8 expression by tumor necrosis factor-α through p38 MAPK and JNK signaling pathways in human lung carcinoma.
    7. hese findings establish UBE2L6 as a novel target of UHRF1 that regulates the apoptosis function of UHRF1.
      Title: UHRF1 epigenetically down-regulates UbcH8 to inhibit apoptosis in cervical cancer cells.
    8. Depletion of either ISG15 or UBE2L6/UBCH8 resulted in enhanced endogenous autophagic flux.
      Title: UBE2L6/UBCH8 and ISG15 attenuate autophagy in esophageal cancer cells.
    9. Data indicate that reduced expression of the ubiquitin-conjugating enzyme UbcH8 protein correlated with poor outcome in nasopharyngeal carcinoma (NPC) patients.
      Title: Epigenetic downregulation of the ISG15-conjugating enzyme UbcH8 impairs lipolysis and correlates with poor prognosis in nasopharyngeal carcinoma.
    10. study reports that UBCH8 and UBE2G1 and UBE2G2 cooperate with CRL4Cdt2 in promoting the polyubiquitylation and subsequent degradation of p21 and Cdt1, respectively
      Title: Selective ubiquitylation of p21 and Cdt1 by UBCH8 and UBE2G ubiquitin-conjugating enzymes via the CRL4Cdt2 ubiquitin ligase complex.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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)

    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

    Clone Names

    • MGC40331

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    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 innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    ubiquitin/ISG15-conjugating enzyme E2 L6
    Names
    E2 ubiquitin-conjugating enzyme L6
    retinoic acid induced gene B protein
    ubiquitin carrier protein L6
    ubiquitin conjugating enzyme E2L 6
    ubiquitin-protein ligase L6
    NP_004214.1
    NP_937826.1

    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_004223.5 → NP_004214.1  ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1

      See identical proteins and their annotated locations for NP_004214.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC032491, H17887
      Consensus CDS
      CCDS7960.1
      UniProtKB/Swiss-Prot
      A6NDM6, A8MY53, O14933, Q8N5D8, Q9UEZ0
      Related
      ENSP00000287156.4, ENST00000287156.9
      Conserved Domains (1) summary
      pfam00179
      Location:6 → 144
      UQ_con; Ubiquitin-conjugating enzyme

    2. NM_198183.3 → NP_937826.1  ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 2

      See identical proteins and their annotated locations for NP_937826.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and uses a downstream start codon, as compared to variant 1. The encoded isoform (2) is thus shorter when it is compared to isoform 1.
      Source sequence(s)
      AK093462, H17887
      Consensus CDS
      CCDS7961.1
      UniProtKB/Swiss-Prot
      O14933
      Related
      ENSP00000341980.4, ENST00000340573.8
      Conserved Domains (1) summary
      pfam00179
      Location:1 → 78
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57551662..57567935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57501830..57518098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14933.4 GenPept UniProtKB/Swiss-Prot:O14933

    Gene LinkOut

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