Aliases for UBE3C Gene

Aliases for UBE3C Gene

  • Ubiquitin Protein Ligase E3C 2 3 5
  • HECT-Type Ubiquitin Transferase E3C 3 4
  • Ubiquitin-Protein Ligase E3C 3 4
  • KIAA0010 2 4
  • KIAA10 2 4
  • Ubiquitin-Protein Isopeptide Ligase (E3) 3
  • EC 2.3.2.26 4
  • HECTH2 3
  • HectH2 4
  • UBE3C 5

External Ids for UBE3C Gene

Previous GeneCards Identifiers for UBE3C Gene

  • GC07P156349
  • GC07P156432
  • GC07P156624
  • GC07P156931
  • GC07P150661

Summaries for UBE3C Gene

GeneCards Summary for UBE3C Gene

UBE3C (Ubiquitin Protein Ligase E3C) is a Protein Coding gene. Diseases associated with UBE3C include Coenzyme Q10 Deficiency, Primary, 2 and Neuronopathy, Distal Hereditary Motor, Type I. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HACE1.

UniProtKB/Swiss-Prot Summary for UBE3C Gene

  • E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo.

Gene Wiki entry for UBE3C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE3C Gene

Genomics for UBE3C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBE3C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J157138 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 611.6 +0.9 938 4.3 CREB1 HNRNPL ZNF629 ZNF692 POLR2A JUND FOXA1 LARP7 PRDM1 ZNF143 UBE3C NOM1 ENSG00000224629 lnc-MNX1-6 DNAJB6
GH07J157270 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +133.6 133633 3.5 GATAD2A CTCF PRDM10 ZNF629 ZNF692 JUND LARP7 ZNF143 RXRB PATZ1 piR-49192 UBE3C DNAJB6 lnc-PTPRN2-4
GH07J157298 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 23.1 +162.0 161992 4.8 RNF2 ARHGAP35 SP1 HNRNPL CTCF ZBTB33 TEAD4 LEF1 IKZF1 BACH1 HSALNG0062730 NOM1 UBE3C DNAJB6 lnc-PTPRN2-3
GH07J157275 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +138.1 138116 2.7 HMBOX1 RUNX3 CTBP1 NFIC ELF1 RCOR1 CTCF NFIB ZNF687 MAZ lnc-PTPRN2-4 UBE3C DNAJB6 ENSG00000229660 LINC01006
GH07J156638 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 -498.8 -498835 4.2 RNF2 CREB1 ZBTB33 RFX1 LEF1 IKZF1 ZNF692 POLR2A ZNF174 BACH1 LINC01006 RNF32 piR-46242 NOM1 UBE3C RBM33 LMBR1 SHH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE3C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE3C

Top Transcription factor binding sites by QIAGEN in the UBE3C gene promoter:
  • Egr-3
  • Evi-1
  • GATA-1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx2-5
  • Nkx6-1
  • Pbx1a
  • S8

Genomic Locations for UBE3C Gene

Genomic Locations for UBE3C Gene
chr7:157,138,916-157,269,370
(GRCh38/hg38)
Size:
130,455 bases
Orientation:
Plus strand
chr7:156,931,607-157,062,066
(GRCh37/hg19)
Size:
130,460 bases
Orientation:
Plus strand

Genomic View for UBE3C Gene

Genes around UBE3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE3C Gene

Proteins for UBE3C Gene

  • Protein details for UBE3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15386-UBE3C_HUMAN
    Recommended name:
    Ubiquitin-protein ligase E3C
    Protein Accession:
    Q15386
    Secondary Accessions:
    • A4D235
    • A6NCP3
    • Q8TC15
    • Q96CR4
    • Q9UDU3

    Protein attributes for UBE3C Gene

    Size:
    1083 amino acids
    Molecular mass:
    123923 Da
    Quaternary structure:
    • Interacts with 26S proteasomes. Interacts (via the N-terminal) with CAND2; the interaction stimulates ubiquitination of CAND2 in vitro. May interact (via the HECT domain) with UBE2D1 and, less efficiently, with UBE2L3.
    SequenceCaution:
    • Sequence=BAA02799.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • A cysteine residue is required for ubiquitin-thioester formation.

    Three dimensional structures from OCA and Proteopedia for UBE3C Gene

    Alternative splice isoforms for UBE3C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE3C Gene

Post-translational modifications for UBE3C Gene

  • Ubiquitination at Lys9, Lys25, Lys47, Lys63, Lys130, Lys145, Lys235, Lys243, Lys558, Lys610, Lys638, and Lys1013
  • Modification sites at PhosphoSitePlus

Other Protein References for UBE3C Gene

No data available for DME Specific Peptides for UBE3C Gene

Domains & Families for UBE3C Gene

Gene Families for UBE3C Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UBE3C Gene

InterPro:
Blocks:
  • HECT domain (Ubiquitin-protein ligase)
ProtoNet:

Suggested Antigen Peptide Sequences for UBE3C Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-protein ligase E3C (UBE3C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15386

UniProtKB/Swiss-Prot:

UBE3C_HUMAN :
  • The C-terminal is necessary and sufficient for the poly-ubiquitin chain assembly.
Domain:
  • The C-terminal is necessary and sufficient for the poly-ubiquitin chain assembly.
genes like me logo Genes that share domains with UBE3C: view

Function for UBE3C Gene

Molecular function for UBE3C Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26;.

Enzyme Numbers (IUBMB) for UBE3C Gene

Phenotypes From GWAS Catalog for UBE3C Gene

Gene Ontology (GO) - Molecular Function for UBE3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 11278995
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IDA 11278995
GO:0061631 ubiquitin conjugating enzyme activity IBA 21873635
genes like me logo Genes that share ontologies with UBE3C: view
genes like me logo Genes that share phenotypes with UBE3C: view

Animal Models for UBE3C Gene

MGI Knock Outs for UBE3C:
  • Ube3c Ube3c<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for UBE3C

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE3C

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBE3C Gene

Localization for UBE3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE3C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE3C gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with UBE3C: view

Pathways & Interactions for UBE3C Gene

genes like me logo Genes that share pathways with UBE3C: view

Pathways by source for UBE3C Gene

3 Qiagen pathways for UBE3C Gene
  • RAR-Gamma-RXR-Alpha Degradation
  • SMAD Signaling Network
  • Ubiquitin-Proteasome Dependent Proteolysis

UniProtKB/Swiss-Prot Q15386-UBE3C_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 11278995
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with UBE3C: view

No data available for SIGNOR curated interactions for UBE3C Gene

Drugs & Compounds for UBE3C Gene

(5) Drugs for UBE3C Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for UBE3C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with UBE3C: view

Transcripts for UBE3C Gene

mRNA/cDNA for UBE3C Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE3C

Alternative Splicing Database (ASD) splice patterns (SP) for UBE3C Gene

No ASD Table

Relevant External Links for UBE3C Gene

GeneLoc Exon Structure for
UBE3C

Expression for UBE3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBE3C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBE3C Gene

This gene is overexpressed in Bone (33.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE3C Gene



Protein tissue co-expression partners for UBE3C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE3C

SOURCE GeneReport for Unigene cluster for UBE3C Gene:

Hs.118351

mRNA Expression by UniProt/SwissProt for UBE3C Gene:

Q15386-UBE3C_HUMAN
Tissue specificity: Highly expressed in skeletal muscle. Detected at much lower levels in kidney and pancreas.

Evidence on tissue expression from TISSUES for UBE3C Gene

  • Lung(4.2)
  • Bone marrow(4.2)
  • Nervous system(3.9)
  • Muscle(2.2)
  • Kidney(2.1)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with UBE3C: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE3C Gene

Orthologs for UBE3C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBE3C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBE3C 30 31
  • 99.72 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UBE3C 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia UBE3C 30 31
  • 88.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ube3c 30 17 31
  • 87.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ube3c 30
  • 87.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia UBE3C 31
  • 87 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia UBE3C 30 31
  • 86.55 (n)
OneToOne
Chicken
(Gallus gallus)
Aves UBE3C 30 31
  • 81.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBE3C 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ube3c 30
  • 75.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia kiaa0010-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ube3c 30 31
  • 69.75 (n)
OneToOne
zgc63649 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG3356 30 31
  • 50.1 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011474 30
  • 31.23 (n)
Worm
(Caenorhabditis elegans)
Secernentea D2085.4 31
  • 25 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL5 31 33
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13247 30
Species where no ortholog for UBE3C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for UBE3C Gene

ENSEMBL:
Gene Tree for UBE3C (if available)
TreeFam:
Gene Tree for UBE3C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE3C: view image

Paralogs for UBE3C Gene

(4) SIMAP similar genes for UBE3C Gene using alignment to 2 proteins:

  • UBE3C_HUMAN
  • H7C0Y1_HUMAN
genes like me logo Genes that share paralogs with UBE3C: view

Variants for UBE3C Gene

Additional dbSNP identifiers (rs#s) for UBE3C Gene

Structural Variations from Database of Genomic Variants (DGV) for UBE3C Gene

Variant ID Type Subtype PubMed ID
dgv1347e214 CNV gain 21293372
dgv6768n100 CNV gain 25217958
esv2665104 CNV deletion 23128226
esv2735669 CNV deletion 23290073
esv2735670 CNV deletion 23290073
esv2735671 CNV deletion 23290073
esv2735673 CNV deletion 23290073
esv2735674 CNV deletion 23290073
esv3615683 CNV loss 21293372
esv3615684 CNV loss 21293372
nsv1117782 CNV deletion 24896259
nsv1119151 CNV deletion 24896259
nsv1124297 CNV deletion 24896259
nsv1129792 CNV tandem duplication 24896259
nsv1143199 CNV tandem duplication 24896259
nsv1147621 CNV insertion 26484159
nsv966918 CNV duplication 23825009

Variation tolerance for UBE3C Gene

Residual Variation Intolerance Score: 3.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE3C Gene

Human Gene Mutation Database (HGMD)
UBE3C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE3C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE3C Gene

Disorders for UBE3C Gene

MalaCards: The human disease database

(5) MalaCards diseases for UBE3C Gene - From: DISEASES and Novoseek

- elite association - COSMIC cancer census association via MalaCards
Search UBE3C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBE3C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with UBE3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE3C Gene

Publications for UBE3C Gene

  1. A HECT domain E3 enzyme assembles novel polyubiquitin chains. (PMID: 11278995) You J … Pickart CM (The Journal of biological chemistry 2001) 2 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Association analysis of UBE3C polymorphisms in Korean aspirin-intolerant asthmatic patients. (PMID: 20934631) Lee JS … Shin HD (Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2010) 3 41
  5. A genomewide association study of citalopram response in major depressive disorder. (PMID: 19846067) Garriock HA … Hamilton SP (Biological psychiatry 2010) 3 41

Products for UBE3C Gene

Sources for UBE3C Gene