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

    Gene ID: 9690, updated on 7-Jan-2024

    Summary

    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 polyubiquitination. Predicted to be located in nucleus. Predicted to be part of proteasome complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 21.1), esophagus (RPKM 16.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See UBE3C in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (157138926..157269370)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158326736..158457202)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    Component Evidence Code Pubs
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_014671.3NP_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:4764
      IQ; Calmodulin-binding motif
      smart00119
      Location:7471080
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:7251081
      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_2023_10

    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_005249564.5XP_005249621.1  ubiquitin-protein ligase E3C isoform X2

      UniProtKB/TrEMBL
      B4DHJ9
      Conserved Domains (2) summary
      smart00119
      Location:7221055
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:7001056
      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_047421073.1XP_047277029.1  ubiquitin-protein ligase E3C isoform X3

    3. XM_047421072.1XP_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_054359404.1XP_054215379.1  ubiquitin-protein ligase E3C isoform X2

      UniProtKB/TrEMBL
      B4DHJ9
    2. XM_054359405.1XP_054215380.1  ubiquitin-protein ligase E3C isoform X3

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

      UniProtKB/TrEMBL
      B4DHJ9