1. Gene
  2. UBE4B - ubiquitination factor E4B Gene

UBE4B - ubiquitination factor E4B Gene

中文名称:泛素化因子 E4B

种属: Homo sapiens

同用名: E4; UFD2; HDNB1; UBOX3; UFD2A

基因 ID: 10277 | 基因类型: protein coding

关于 UBE4B

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,032,958-10,181,239 (from NCBI)

This gene has 10 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 12.1), skin (RPKM 10.9) 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。该基因编码一个额外的结合因子 E4,它参与多泛素链组装。该基因也是神经母细胞瘤抑癌基因中最强的候选基因。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 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 an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UBE4B 基因产物(3)

mRNA Protein Name
NM_001105562.3 NP_001099032.1 ubiquitin conjugation factor E4 B isoform 1
NM_001410744.1 NP_001397673.1 ubiquitin conjugation factor E4 B isoform 3
NM_006048.5 NP_006039.2 ubiquitin conjugation factor E4 B isoform 2
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
20696396 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in granzyme-mediated apoptotic signaling pathway IDA
IDA: 通过直接分析推断
11802788 GOA
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
23509263 GOA
involved in response to UV IDA
IDA: 通过直接分析推断
11802788 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

UBE4B 蛋白结构

Ufd2P_core

Ufd2P_core: Ubiquitin elongating factor core (591 - 1213)

U-box

U-box: U-box domain (1228 - 1299)

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  • 1302 a.a.
蛋白主名 其他名称

ubiquitin conjugation factor E4 B

RING-type E3 ubiquitin transferase E4 B

UBE4B 抗体

目录号 产品名 应用 反应物种
HY-P83563 Ubiquitin Conjugation Factor E4 B Antibody (YA3308) WB, ICC/IF Human, Rat

关联疾病

疾病名称 别名
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Neuroblastoma 1

Neuroblastoma, Susceptibility To, 1

NBLST1

Neuroblastoma, Susceptibility To, Type 1

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Complement Component 7 Deficiency

C7 Deficiency

C7D

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

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 UBE4B VGNC VGNC:48073
Bos taurus UBE4B VGNC VGNC:36604
Rattus norvegicus UBE4B RGD RGD:1304738
Mus musculus UBE4B MGD MGI:1927086
Felis catus UBE4B VGNC VGNC:66772
Macaca mulatta UBE4B VGNC VGNC:78700