1. Gene
  2. AUP1 - AUP1 lipid droplet regulating VLDL assembly factor Gene

AUP1 - AUP1 lipid droplet regulating VLDL assembly factor Gene

中文名称:AUP1 脂滴调节 VLDL 装配因子

种属: Homo sapiens

基因 ID: 550 | 基因类型: protein coding

关于 AUP1

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,526,652-74,529,706 (from NCBI)

This gene has 8 transcripts (splice variants) and 200 orthologues. Ubiquitous expression in bone marrow (RPKM 42.2), duodenum (RPKM 40.5) and 25 other tissues.

功能概要

编码该基因的蛋白质参与多种途径,包括内质网中错误折叠蛋白质的质量控制和脂滴积累。脂滴是细胞质中的细胞器,可储存中性脂质,如胆固醇酯和甘油三酯,以防止细胞中游离胆固醇和脂肪酸过多,同时也可作为其他代谢过程 (如膜生物合成) 的储存库。该基因的表达减少导致脂滴聚集减少,这是一种依赖于蛋白质泛素化的功能。该蛋白质包含多个结构域,包括疏水性 N 末端结构域、乙酰转移酶结构域、泛素结合 CUE 结构域和 UBE2B2 结合结构域 (G2BR) 。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 11 月]

The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as Cholesterol esters and trigylycerides to prevent the overabundance of free Cholesterol and fatty acids in cells, but also to act as storage for Other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

AUP1 基因产物(1)

mRNA Protein Name
NM_181575.5 NP_853553.1 lipid droplet-regulating VLDL assembly factor AUP1
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 protein binding IPI
IPI: 通过物理相互作用推断
22119785 GOA
enables ubiquitin conjugating enzyme binding IPI
IPI: 通过物理相互作用推断
21127063 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
23223569 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
21857022 GOA
involved in lipid droplet formation IMP
IMP: 通过突变表型推断
21857022 GOA
involved in lipid droplet organization IDA
IDA: 通过直接分析推断
24039768 GOA
involved in lipophagy IMP
IMP: 通过突变表型推断
29902443 GOA
involved in protein localization to lipid droplet IDA
IDA: 通过直接分析推断
21127063 GOA
involved in protein localization to lipid droplet IMP
IMP: 通过突变表型推断
23223569 GOA
involved in response to virus IMP
IMP: 通过突变表型推断
29902443 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
25660456 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in autophagosome IDA
IDA: 通过直接分析推断
29902443 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
21857022 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
21127063 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
21127063 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

AUP1 蛋白结构

CUE

CUE: CUE domain (301 - 336)

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

lipid droplet-regulating VLDL assembly factor AUP1

ancient ubiquitous protein 1

AUP1 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
种属内
AUP1 Q9Y679 UBE2G2 Homo sapiens P60604 32296183
种属内
AUP1 Q9Y679 UBE2G2 Homo sapiens P60604 22119785
种属内
AUP1 Q9Y679 UBE2G2 Homo sapiens P60604 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
Dengue Virus

Dengue Virus, Susceptibility To

Dengue Fever, Protection Against

Dengue Fever

Atrial Septal Defect 3

ASD3

Atrial Heart Septal Defect 3

Septal Defect, Atrial, Type 3

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
Felis catus AUP1 VGNC VGNC:68821
Macaca mulatta AUP1 VGNC VGNC:70196
Bos taurus AUP1 VGNC VGNC:26348
Mus musculus AUP1 MGD MGI:107789
Canis familiaris AUP1 VGNC VGNC:38310
Rattus norvegicus AUP1 RGD RGD:1591777