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Aliases for UBE3C Gene

Aliases for UBE3C Gene

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

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. Among its related pathways are SMAD Signaling Network and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is UBE3B.

UniProtKB/Swiss-Prot 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

Additional gene information for UBE3C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE3C Gene

Genomics for UBE3C Gene

Regulatory Elements for UBE3C Gene

Enhancers for UBE3C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H157298 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +162.0 162041 4.9 HDGF ATF1 ARNT SIN3A YBX1 ZNF2 ZNF207 ATF7 ZNF548 RUNX3 NOM1 UBE3C DNAJB6 GC07M157305 GC07M157304 ENSG00000229660
GH07H157275 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +138.1 138054 2.8 SAP130 NFIB ETV1 MAX CTBP1 GLIS2 GATA3 POLR2A EGR1 FOS UBE3C DNAJB6 ENSG00000229660 C7orf13 PIR42191
GH07H157270 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +133.5 133545 3.2 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DNAJB6 UBE3C PIR42191 ENSG00000229660
GH07H156923 0.9 ENCODE 19.8 -215.6 -215552 0.2 PKNOX1 ATF1 TBL1XR1 BMI1 BATF ZNF766 ZNF207 ATF7 ETV6 RUNX3 NOM1 UBE3C LOC105375604 LOC102723795
GH07H157138 1.4 FANTOM5 ENCODE 11.7 +0.9 941 4.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 NOM1 UBE3C RPL36AP30 GC07M157142
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBE3C on UCSC Golden Path with GeneCards custom track

Promoters for UBE3C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000220192 287 2001 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766

Genomic Locations for UBE3C Gene

Genomic Locations for UBE3C Gene
chr7:157,138,913-157,269,372
(GRCh38/hg38)
Size:
130,460 bases
Orientation:
Plus strand
chr7:156,931,607-157,062,066
(GRCh37/hg19)

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.
    Miscellaneous:
    • A cysteine residue is required for ubiquitin-thioester formation.
    SequenceCaution:
    • Sequence=BAA02799.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    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, posLast=145145, Lys235, posLast=243243, Lys558, posLast=610610, 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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UBE3C Gene

Suggested Antigen Peptide Sequences for UBE3C Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
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.
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.

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 IDA 11278995
GO:0005515 protein binding IPI 11278995
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
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:

Clone Products

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 5
cytosol 3
plasma membrane 2
mitochondrion 2

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:0005622 intracellular IC 11278995
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
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

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: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 Nutra 0
ATP Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with UBE3C: view

Transcripts for UBE3C Gene

Unigene Clusters for UBE3C Gene

Ubiquitin protein ligase E3C:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for UBE3C Gene

GeneLoc Exon Structure for
UBE3C
ECgene alternative splicing isoforms for
UBE3C

Expression for UBE3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for UBE3C Gene



Protein tissue co-expression partners for UBE3C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBE3C Gene:

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

  • Bone marrow(4.2)
  • Lung(4.2)
  • Nervous system(3.6)
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 33 34
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UBE3C 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE3C 33 34
  • 88.73 (n)
mouse
(Mus musculus)
Mammalia Ube3c 33 16 34
  • 87.32 (n)
rat
(Rattus norvegicus)
Mammalia Ube3c 33
  • 87.2 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE3C 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBE3C 33 34
  • 86.55 (n)
chicken
(Gallus gallus)
Aves UBE3C 33 34
  • 81.29 (n)
lizard
(Anolis carolinensis)
Reptilia UBE3C 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube3c 33
  • 75.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia kiaa0010-prov 33
zebrafish
(Danio rerio)
Actinopterygii ube3c 33 34
  • 69.75 (n)
zgc63649 33
fruit fly
(Drosophila melanogaster)
Insecta CG3356 33 34
  • 50.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011474 33
  • 31.23 (n)
worm
(Caenorhabditis elegans)
Secernentea D2085.4 34
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL5 34 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13247 33
Species where no ortholog for UBE3C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for UBE3C Gene

Paralogs for UBE3C Gene

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

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

Variants for UBE3C Gene

Sequence variations from dbSNP and Humsavar for UBE3C Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000009085 -- 157,259,767(+) ACCGG(A/G)TTGTG intron-variant
rs1000039360 -- 157,137,685(+) TTAGC(C/T)TCCAG upstream-variant-2KB
rs1000086424 -- 157,203,825(+) CAATG(G/T)GGCTT intron-variant
rs1000104078 -- 157,224,167(+) CTACA(C/T)CTGGC intron-variant
rs1000117839 -- 157,158,158(+) AAGTG(A/T)TGGAA intron-variant

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

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

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)

Relevant External Links for UBE3C Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE3C Gene

Disorders for UBE3C Gene

Relevant External Links for UBE3C

Genetic Association Database (GAD)
UBE3C
Human Genome Epidemiology (HuGE) Navigator
UBE3C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE3C

No disorders were found for UBE3C Gene.

No data available for MalaCards , 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 22 60
  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 60
  3. A genomewide association study of citalopram response in major depressive disorder. (PMID: 19846067) Garriock HA … Hamilton SP (Biological psychiatry 2010) 3 45 60
  4. 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 45 60
  5. 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 45 60

Products for UBE3C Gene

Sources for UBE3C Gene

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