1. Gene
  2. MUL1 - mitochondrial E3 ubiquitin protein ligase 1 Gene

MUL1 - mitochondrial E3 ubiquitin protein ligase 1 Gene

中文名称:线粒体 E3 泛素蛋白连接酶 1

种属: Homo sapiens

同用名: GIDE; MAPL; MULAN; RNF218; C1orf166

基因 ID: 79594 | 基因类型: protein coding

关于 MUL1

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:20,499,448-20,508,151 (from NCBI)

This gene has 1 transcript (splice variant) and 206 orthologues. Ubiquitous expression in kidney (RPKM 8.0), heart (RPKM 7.9) and 25 other tissues.

功能概要

启用多项功能,包括 p53 绑定活动;泛素蛋白连接酶结合活性;和泛素样蛋白转移酶活性。参与多个过程,包括防御反应的负调节;细胞蛋白质代谢过程的正向调节;和线粒体组织的调节。位于几种细胞成分中,包括线粒体;神经细胞体;和过氧化物酶体。是线粒体外膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including p53 binding activity; ubiquitin protein Ligase binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including negative regulation of defense response; positive regulation of cellular protein metabolic process; and regulation of mitochondrion organization. Located in several cellular components, including mitochondrion; neuronal cell body; and peroxisome. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]

MUL1 基因产物(1)

mRNA Protein Name
NM_024544.3 NP_078820.2 mitochondrial ubiquitin ligase activator of NFKB 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SUMO transferase activity IDA
IDA: 通过直接分析推断
19407830 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
18591963 GOA
enables p53 binding IPI
IPI: 通过物理相互作用推断
21597459 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
18213395 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
19407830 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
18591963 GOA
involved in cellular response to exogenous dsRNA IDA
IDA: 通过直接分析推断
23399697 GOA
involved in mitochondrial fission IMP
IMP: 通过突变表型推断
18207745 GOA
involved in mitochondrion localization IMP
IMP: 通过突变表型推断
18213395 GOA
involved in negative regulation of cell growth IDA
IDA: 通过直接分析推断
18591963 GOA
involved in negative regulation of chemokine (C-C motif) ligand 5 production IMP
IMP: 通过突变表型推断
23399697 GOA
involved in negative regulation of defense response to virus by host IMP
IMP: 通过突变表型推断
23399697 GOA
involved in negative regulation of innate immune response IMP
IMP: 通过突变表型推断
23399697 GOA
involved in negative regulation of mitochondrial fusion IDA
IDA: 通过直接分析推断
19407830 GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
22410793 GOA
involved in negative regulation of type I interferon-mediated signaling pathway IMP
IMP: 通过突变表型推断
23399697 GOA
involved in positive regulation of mitochondrial fission IDA
IDA: 通过直接分析推断
19407830 GOA
involved in positive regulation of protein sumoylation IDA
IDA: 通过直接分析推断
19407830 GOA
involved in protein destabilization IMP
IMP: 通过突变表型推断
24898855 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
21597459 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
19407830 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
18213395 GOA
involved in regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA
IDA: 通过直接分析推断
18591963 GOA
involved in regulation of mitochondrion organization IMP
IMP: 通过突变表型推断
24898855 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axon IMP
IMP: 通过突变表型推断
24898855 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
18207745 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
21597459 GOA
located in mitochondrion IMP
IMP: 通过突变表型推断
24898855 GOA
located in neuronal cell body IMP
IMP: 通过突变表型推断
24898855 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
18207745 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

MUL1 蛋白结构

GIDE

GIDE: E3 Ubiquitin ligase (98 - 252)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (299 - 346)

  • 0
  • 100
  • 200
  • 300
  • 352 a.a.
蛋白主名 其他名称

mitochondrial ubiquitin ligase activator of NFKB 1

E3 SUMO-protein ligase MUL1

MUL1 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 MUL1 Q969V5 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra MUL1 Q969V5 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra MUL1 Q969V5 REEP2 Homo sapiens Q9BRK0
Y2H Array
32296183
Intra MUL1 Q969V5 REEP2 Homo sapiens Q9BRK0
Y2H Prey Pooling
32296183
Intra MUL1 Q969V5 REEP2 Homo sapiens Q9BRK0
Validated Y2H
32296183
Intra MUL1 Q969V5 TRIM9 Homo sapiens Q9C026
Y2H Prey Pooling
25416956
Intra MUL1 Q969V5 APPBP2 Homo sapiens Q92624
Y2H Array
32296183
Intra MUL1 Q969V5 APPBP2 Homo sapiens Q92624
Y2H Prey Pooling
32296183
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
Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

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
Felis catus MUL1 VGNC VGNC:63665
Bos taurus MUL1 VGNC VGNC:31760
Rattus norvegicus MUL1 RGD RGD:1309944
Mus musculus MUL1 MGD MGI:1915600
Macaca mulatta MUL1 VGNC VGNC:106413
Canis familiaris MUL1 VGNC VGNC:43501