UBE3C - ubiquitin protein ligase E3C Gene

Also Known as RAUL; HECTH2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9690

About UBE3C

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:157,138,926-157,269,370 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues and 24 paralogues. Ubiquitous expression in testis (RPKM 21.1), esophagus (RPKM 16.8) and 25 other tissues.

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]

UBE3C Products (1)

mRNA Protein Name
NM_014671.3 NP_055486.2 ubiquitin-protein ligase E3C

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
11278995 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
11278995 GOA
Biological Process GO Annotation Evidence Références Source
involved in protein K29-linked ubiquitination IDA
IDA: Inferred from direct assay
11278995 GOA
involved in protein K48-linked ubiquitination IDA
IDA: Inferred from direct assay
11278995 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
11278995 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
33637724 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBE3C Protein Structure

HECT

HECT: HECT-domain (ubiquitin-transferase) (780 - 1083)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1083 a.a.
Protein Preferred Names Protein Names

ubiquitin-protein ligase E3C

  • HECT-type ubiquitin transferase E3C

UBE3C Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
UBE3C Q15386 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Coenzyme Q10 Deficiency, Primary, 2

  • Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome

  • COQ10D2

  • Primary Coenzyme Q10 Deficiency 2

  • Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome

  • Coenzyme Q10 Deficiency, Primary, Type 2
Neuronopathy, Distal Hereditary Motor, Type I

  • Dhmn1

  • Hmn I

  • Distal Hereditary Motor Neuronopathy Type 1

  • Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1

  • Neuronopathy, Distal Hereditary Motor, Type 1

  • HMN1

  • Neuropathy, Distal Hereditary Motor, Type I

  • Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I

  • Charcot-Marie-Tooth Disease, Spinal, I

  • Distal Hereditary Motor Neuropathy Type I

  • Spinal Charcot-Marie-Tooth Disease 1

  • Distal Hereditary Motor Neuropathy Type 1

  • Neuropathy, Motor, Distal, Hereditary, Type I
Kaufman Oculocerebrofacial Syndrome

  • KOS

  • Blepharophimosis-Ptosis-Intellectual Disability Syndrome

  • Oculocerebrofacial Syndrome, Kaufman Type

  • Bpids

  • Blepharophimosis Ptosis Intellectual Disability Syndrome

  • Blepharophimosis-Ptosis-Intellectual Disability Syndrome

  • Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

  • Bpid Syndrome
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

  • Muscular Dystrophy, Limb-Girdle, Type 1e

  • Lgmd1d

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d

  • LGMDD1

  • Lgmd1e

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

  • Limb-Girdle Muscular Dystrophy Type 1d

  • Muscular Dystrophy, Limb-Girdle, Type 1d

  • Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly

  • Lgmd1d, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

  • Muscular Dystrophy Limb-Girdle Type 1d

  • Muscular Dystrophy Limb-Girdle Type 1e

  • Dnajb6-Related Limb-Girdle Muscular Dystrophy D1

  • Dnajb6-Related Lgmd D1

  • Lgmd Type 1d

  • Limb-Girdle Muscular Dystrophy 1e

  • Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1

  • Dystrophy, Muscular, Limb-Girdle, Type 1e
Parkinson Disease, Late-Onset

  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS15370 UBE3C Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22892 Ube3c Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29406 Ube3c Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta UBE3C VGNC VGNC:79049
Felis catus UBE3C VGNC VGNC:66769
Mus musculus UBE3C MGD MGI:2140998
Canis familiaris UBE3C VGNC VGNC:48070
Bos taurus UBE3C VGNC VGNC:36601
Rattus norvegicus UBE3C RGD RGD:1559986