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

Gene ID: 9690, updated on 7-Apr-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
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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)

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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_014671.3NP_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

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

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

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