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

UBE3C - ubiquitin protein ligase E3C Gene

中文名称:泛素蛋白连接酶 E3C

种属: Homo sapiens

同用名: RAUL; HECTH2

基因 ID: 9690 | 基因类型: protein coding

关于 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.

功能概要

启用泛素蛋白连接酶活性。参与蛋白质多聚泛素化。预测位于核内。预计是蛋白酶体复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_014671.3 NP_055486.2 ubiquitin-protein ligase E3C
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11278995 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
11278995 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein K29-linked ubiquitination IDA
IDA: 通过直接分析推断
11278995 GOA
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
11278995 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
11278995 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
33637724 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

UBE3C 蛋白结构

HECT

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1083 a.a.
蛋白主名 其他名称

ubiquitin-protein ligase E3C

HECT-type ubiquitin transferase E3C

UBE3C 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra UBE3C Q15386 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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