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    UBE3C ubiquitin protein ligase E3C [ Homo sapiens (human) ]

    Gene ID: 9690, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UBE3Cprovided by HGNC
    Official Full Name
    ubiquitin protein ligase E3Cprovided by HGNC
    Primary source
    HGNC:HGNC:16803
    See related
    Ensembl:ENSG00000009335 MIM:614454; AllianceGenome:HGNC:16803
    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
    Also known as
    RAUL; HECTH2; NDSMBA; NEDSMBA
    Summary
    Enables ubiquitin protein ligase activity. Involved in protein K29-linked ubiquitination; protein K48-linked ubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to be part of proteasome complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 21.1), esophagus (RPKM 16.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBE3C in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (157138926..157269370)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158326736..158457202)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156931620..157062064)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene adenosylmethionine decarboxylase 1 pseudogene Neighboring gene uncharacterized LOC105375607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156917852-156918402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18862 Neighboring gene RPS27A pseudogene 12 Neighboring gene UBX domain protein 2B pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157064509-157065277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157065278-157066047 Neighboring gene ribosomal protein L36a pseudogene 30 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157074692-157075645 Neighboring gene uncharacterized LOC124901803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157081913-157082520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157082521-157083126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157084407-157085020 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157092843-157093017 Neighboring gene Sharpr-MPRA regulatory region 5233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157100891-157101432 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157101433-157101972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157101973-157102514 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:157102515-157103054 and GRCh37_chr7:157103055-157103596 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157103597-157104136 Neighboring gene Sharpr-MPRA regulatory region 5385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157129146-157129648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157129649-157130152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157133233-157133753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157141921-157142490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26928 Neighboring gene DnaJ heat shock protein family (Hsp40) member B6 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157166121-157166319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157182939-157183539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157193377-157193935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157194192-157195182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157198555-157199224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157201081-157202080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157202081-157203080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157203081-157204078

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. UBE3C restricts EV-A71 replication by ubiquitination-dependent degradation of 2C. Cui B, et al. J Virol, 2024 Oct 22. PMID 39212385, Free PMC Article
    2. Clinical significance of the ubiquitin ligase UBE3C in hepatocellular carcinoma revealed by exome sequencing. Jiang JH, et al. Hepatology, 2014 Jun. PMID 24425307
    3. Association analysis of UBE3C polymorphisms in Korean aspirin-intolerant asthmatic patients. Lee JS, et al. Ann Allergy Asthma Immunol, 2010 Oct. PMID 20934631
    4. UBE3C promotes growth and metastasis of renal cell carcinoma via activating Wnt/β-catenin pathway. Wen JL, et al. PLoS One, 2015. PMID 25658088, Free PMC Article
    5. Crystal structure of HECT domain of UBE3C E3 ligase and its ubiquitination activity. Singh S, et al. Biochem J, 2020 Mar 13. PMID 32039437

    See all (127) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBE3C restricts EV-A71 replication by ubiquitination-dependent degradation of 2C.
      Title: UBE3C restricts EV-A71 replication by ubiquitination-dependent degradation of 2C.
    2. Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
      Title: Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
    3. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
      Title: Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
    4. Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway.
      Title: Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway.
    5. UBE3C promotes proliferation and inhibits apoptosis by activating the beta-catenin signaling via degradation of AXIN1 in gastric cancer.
      Title: UBE3C promotes proliferation and inhibits apoptosis by activating the β-catenin signaling via degradation of AXIN1 in gastric cancer.
    6. VPS34 K29/K48 branched ubiquitination governed by UBE3C and TRABID regulates autophagy, proteostasis and liver metabolism.
      Title: VPS34 K29/K48 branched ubiquitination governed by UBE3C and TRABID regulates autophagy, proteostasis and liver metabolism.
    7. Crystal structure of HECT domain of UBE3C E3 ligase and its ubiquitination activity.
      Title: Crystal structure of HECT domain of UBE3C E3 ligase and its ubiquitination activity.
    8. Findings indicate that miR-30a-5p inhibits ubiquitin Protein ligase E3C (UBE3C) expression by directly targeting its 3' untranslated regions (3'-UTR).
      Title: MiR-30a-5p/UBE3C axis regulates breast cancer cell proliferation and migration.
    9. Data suggest UBE3C-mediated AHNAK ubiquitination and degradation accompanied by subsequent blockage of p53 inhibition of stemness-related-gene transcription as a new posttranslational regulatory model describing maintenance of non-small-cell lung cancer (NSCLC) cell stemness. UBE3C knockdown increased p53 binding to the promoter regions inhibiting their transcription and preventing NSCLC tumorigenesis.
      Title: Ubiquitin-protein ligase E3C maintains non-small-cell lung cancer stemness by targeting AHNAK-p53 complex.
    10. miR-542-3p functioned as a tumor suppressor gene in regulating the epithelial-mesenchymal transition and metastasis of hepatocellular carcinoma via targeting UBE3C.
      Title: MiR-542-3p inhibits metastasis and epithelial-mesenchymal transition of hepatocellular carcinoma by targeting UBE3C.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
    MedGen: C5830319 OMIM: 620270 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genomewide association study of citalopram response in major depressive disorder.
    EBI GWAS Catalog
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA10, KIAA0010

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein K29-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-protein ligase E3C
    Names
    HECT-type ubiquitin transferase E3C
    RTA-associated ubiquitin ligase
    homologous to E6AP carboxyl terminus homologous protein 2
    ubiquitin-protein isopeptide ligase (E3)
    NP_055486.2
    XP_005249621.1
    XP_047277028.1
    XP_047277029.1
    XP_054215378.1
    XP_054215379.1
    XP_054215380.1

    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_014671.3 → NP_055486.2  ubiquitin-protein ligase E3C

      See identical proteins and their annotated locations for NP_055486.2

      Status: VALIDATED

      Source sequence(s)
      AA596042, AC004898, AK127280, CD366848, D13635, DB085748, DB454915
      Consensus CDS
      CCDS34789.1
      UniProtKB/Swiss-Prot
      A4D235, A6NCP3, Q15386, Q8TC15, Q96CR4, Q9UDU3
      UniProtKB/TrEMBL
      B4DHJ9
      Related
      ENSP00000309198.8, ENST00000348165.10
      Conserved Domains (3) summary
      smart00015
      Location:47 → 64
      IQ; Calmodulin-binding motif
      smart00119
      Location:747 → 1080
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:725 → 1081
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      157138926..157269370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249564.5 → XP_005249621.1  ubiquitin-protein ligase E3C isoform X2

      UniProtKB/TrEMBL
      B4DHJ9
      Conserved Domains (2) summary
      smart00119
      Location:722 → 1055
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:700 → 1056
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

    2. XM_047421073.1 → XP_047277029.1  ubiquitin-protein ligase E3C isoform X3

    3. XM_047421072.1 → XP_047277028.1  ubiquitin-protein ligase E3C isoform X1

      UniProtKB/TrEMBL
      B4DHJ9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      158326736..158457202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359404.1 → XP_054215379.1  ubiquitin-protein ligase E3C isoform X2

      UniProtKB/TrEMBL
      B4DHJ9

    2. XM_054359405.1 → XP_054215380.1  ubiquitin-protein ligase E3C isoform X3

    3. XM_054359403.1 → XP_054215378.1  ubiquitin-protein ligase E3C isoform X1

      UniProtKB/TrEMBL
      B4DHJ9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15386.3 GenPept UniProtKB/Swiss-Prot:Q15386

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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