Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UBE3C Gene

Aliases for UBE3C Gene

  • Ubiquitin Protein Ligase E3C 2 3 5
  • HECTH2 3 4
  • Ubiquitin-Protein Isopeptide Ligase (E3) 3
  • EC 6.3.2.- 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. Diseases associated with UBE3C include kabuki syndrome 1. Among its related pathways are Immune System and SMAD Signaling Network. 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

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

Genomics for UBE3C Gene

Regulatory Elements for UBE3C Gene

Promoters for UBE3C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBE3C on UCSC Golden Path with GeneCards custom track

Genomic Location for UBE3C Gene

Chromosome:
7
Start:
157,138,913 bp from pter
End:
157,269,372 bp from pter
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.
    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

Proteomics data for UBE3C Gene at MOPED

Post-translational modifications for UBE3C Gene

  • Ubiquitination at Lys 9, Lys 25, Lys 47, Lys 63, Lys 130, Lys 145, Lys 235, Lys 243, Lys 558, Lys 610, Lys 638, and Lys 1013
  • Modification sites at PhosphoSitePlus

Other Protein References for UBE3C Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for UBE3C

No data available for DME Specific Peptides for UBE3C Gene

Domains & Families for UBE3C Gene

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.
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 1 IQ domain.
genes like me logo Genes that share domains with UBE3C: view

No data available for Gene Families for UBE3C Gene

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.

Enzyme Numbers (IUBMB) 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:0016874 ligase activity IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models 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
Jensen Localization Image for UBE3C Gene COMPARTMENTS Subcellular localization image for UBE3C gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for UBE3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11278995
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
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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

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 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, MOPED, and MaxQB for UBE3C Gene



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.
genes like me logo Genes that share expression patterns with UBE3C: view

Protein tissue co-expression partners for UBE3C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia UBE3C 35
  • 86.55 (n)
  • 93.63 (a)
UBE3C 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE3C 35
  • 88.73 (n)
  • 95.75 (a)
UBE3C 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube3c 35
  • 87.32 (n)
  • 93.35 (a)
Ube3c 16
Ube3c 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBE3C 35
  • 99.72 (n)
  • 99.91 (a)
UBE3C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ube3c 35
  • 87.2 (n)
  • 93.26 (a)
oppossum
(Monodelphis domestica)
Mammalia UBE3C 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBE3C 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE3C 35
  • 81.29 (n)
  • 90.77 (a)
UBE3C 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE3C 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube3c 35
  • 75.89 (n)
  • 86.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia kiaa0010-prov 35
zebrafish
(Danio rerio)
Actinopterygii ube3c 35
  • 69.75 (n)
  • 76.26 (a)
zgc63649 35
ube3c 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011474 35
  • 31.23 (n)
  • 15.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3356 35
  • 50.1 (n)
  • 41.89 (a)
CG3356 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea D2085.4 36
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL5 36
  • 25 (a)
OneToMany
HUL5 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13247 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
Species with no ortholog for UBE3C:
  • 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
rs7807 -- 157,268,948(-) AATAC(G/T)AGACA nc-transcript-variant, utr-variant-3-prime
rs8101 -- 157,268,780(-) CCGAC(A/G)CTCCT nc-transcript-variant, utr-variant-3-prime
rs886677 -- 157,211,088(-) GGAGG(A/T)AACTC intron-variant
rs886678 -- 157,210,739(-) AATGG(A/G)AGGCA intron-variant
rs886679 -- 157,210,714(-) AAACG(C/T)TTCTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2735669 CNV Deletion 23290073
esv2665104 CNV Deletion 23128226
dgv7561n71 CNV Loss 21882294
esv2735670 CNV Deletion 23290073
esv2735671 CNV Deletion 23290073
esv2735673 CNV Deletion 23290073
esv2735674 CNV Deletion 23290073
nsv889576 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
UBE3C
Human Gene Mutation Database (HGMD)
UBE3C

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

Disorders for UBE3C Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBE3C Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UBE3C in MalaCards View complete list of genes associated with diseases

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
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 C.M. (J. Biol. Chem. 2001) 2 3 4 23 67
  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 Res. 1994) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Clinical significance of the ubiquitin ligase E3C in hepatocellular carcinoma revealed by exome sequencing. (PMID: 24425307) Jiang J.H. … Zhou J. (Hepatology 2014) 3

Products for UBE3C Gene

Sources for UBE3C Gene

Back to Top

Content