1. Gene
  2. UBE3C - ubiquitin protein ligase E3C Gene

UBE3C - ubiquitin protein ligase E3C Gene

Homo sapiens

Also known as RAUL; HECTH2

Gene ID: 9690 | Gene type: protein coding

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

UBE3C Protein Structure

HECT

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

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  • 1083 a.a.
Protein Preferred Names Protein Names

ubiquitin-protein ligase E3C

HECT-type ubiquitin transferase E3C

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

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