1. Gene
  2. UBE2D1 - ubiquitin conjugating enzyme E2 D1 Gene

UBE2D1 - ubiquitin conjugating enzyme E2 D1 Gene

中文名称:泛素结合酶 E2 D1

种属: Homo sapiens

同用名: SFT; UBCH5; UBC4/5; UBCH5A; E2(17)KB1

基因 ID: 7321 | 基因类型: protein coding

关于 UBE2D1

Cytogenetic location: 10q21.1 Genomic coordinates (GRCh38): 10:58,335,006-58,370,748 (from NCBI)

This gene has 4 transcripts (splice variants), 274 orthologues and 12 paralogues. Ubiquitous expression in bone marrow (RPKM 16.4), appendix (RPKM 13.7) and 25 other tissues.

功能概要

用泛素修饰蛋白质是靶向异常或短寿命蛋白质进行降解的重要细胞机制。泛素化至少涉及三类酶:泛素激活酶或 E1、泛素结合酶或 E2,以及泛素-蛋白质连接酶或 E3。该基因编码 E2 泛素结合酶家族的成员。这种酶与铁转运刺激物 (SFT) 密切相关,在遗传性血色素沉着症中上调。它还通过与 E1 泛素激活酶和 E3 泛素蛋白连接酶相互作用,在肿瘤抑制蛋白 p53 和缺氧诱导转录因子 HIF1alpha 的泛素化中发挥作用。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2011 年 3 月]

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating Enzymes, or E1s, ubiquitin-conjugating Enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating Enzyme family. This Enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating Enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

UBE2D1 基因产物(2)

mRNA Protein Name
NM_001204880.2 NP_001191809.1 ubiquitin-conjugating enzyme E2 D1 isoform 2
NM_003338.5 NP_003329.1 ubiquitin-conjugating enzyme E2 D1 isoform 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 protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables ubiquitin conjugating enzyme activity IDA
IDA: 通过直接分析推断
15247280 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
8530467 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
18359941 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
35927303 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
16275645 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
35927303 GOA
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
20061386 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
15247280 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
16275645 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
18845142 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
22797923 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

UBE2D1 蛋白结构

UQ_con

UQ_con: Ubiquitin-conjugating enzyme (5 - 141)

  • 0
  • 100
  • 147 a.a.
蛋白主名 其他名称

ubiquitin-conjugating enzyme E2 D1

(E3-independent) E2 ubiquitin-conjugating enzyme D1

重组 UBE2D1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71399 UBE2D1 Protein, Human (GST) P51668 (M1-M147) ≥95%

关联疾病

疾病名称 别名
Tonne-Kalscheuer Syndrome

TOKAS

Mrx61

Intellectual Developmental Disorder With Or Without Hand And Foot Anomalies, Genital Anomalies, Or Congenital Diaphragmatic Hernia

Mental Retardation, X-Linked 61

X-Linked Mental Retardation 61

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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
Canis familiaris UBE2D1 VGNC VGNC:48050
Macaca mulatta UBE2D1 VGNC VGNC:78693
Felis catus UBE2D1 VGNC VGNC:66758
Rattus norvegicus UBE2D1 RGD RGD:1307886
Mus musculus UBE2D1 MGD MGI:2384911
Bos taurus UBE2D1 VGNC VGNC:36579
Others UBE2D1 NCBI