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

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: mouse all
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Genomic context

Location:: 7q36.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (157138926..157269370)
RS_2023_03	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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Usp14 and Ube3c cycle together on and off proteasomes, and the presence of ubiquitinated substrates promotes their association. This mechanism enables proteasome activity to adapt to the supply of substrates.
Title: Ubiquitinated proteins promote the association of proteasomes with the deubiquitinating enzyme Usp14 and the ubiquitin ligase Ube3c.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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: CN323718 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 EBI GWAS CatalogPubMed
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH92834 (e-PCR)
- UniSTS:89861

RH98878 (e-PCR)
- UniSTS:91933

RH81080 (e-PCR)
- UniSTS:88868

D8S2279 (e-PCR)
- UniSTS:473907

D7S2872 (e-PCR)
- UniSTS:43838

RH47207 (e-PCR)
- UniSTS:39273

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-58446 (e-PCR)
- UniSTS:94337

SHGC-58169 (e-PCR)
- UniSTS:31128

RH25250 (e-PCR)
- UniSTS:65436

D7S3165 (e-PCR)
- UniSTS:225951

D7S3173 (e-PCR)
- UniSTS:225957

STS-D13635 (e-PCR)
- UniSTS:54193

D7S2380 (e-PCR)
- UniSTS:83169

SHGC-155117 (e-PCR)
- UniSTS:184560

SHGC-155118 (e-PCR)
- UniSTS:184561

Homology

Homologs of the UBE3C gene: The UBE3C gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 516 organisms have orthologs with human gene UBE3C
Orthologs

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	PubMed
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	PubMed
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	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

EC 2.3.2.26

XP_005249621.1

EC 2.3.2.26

XP_047277028.1

EC 2.3.2.26

XP_047277029.1

EC 2.3.2.26

XP_054215378.1

EC 2.3.2.26

XP_054215379.1

EC 2.3.2.26

XP_054215380.1

EC 2.3.2.26

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)

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

Q15386, Q9UDU3

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_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

157138926..157269370

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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 ...
XM_047421073.1 → XP_047277029.1 ubiquitin-protein ligase E3C isoform X3
XM_047421072.1 → XP_047277028.1 ubiquitin-protein ligase E3C isoform X1