2. Gene
  3. UBE4A - ubiquitination factor E4A Gene

UBE4A - ubiquitination factor E4A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：泛素化因子 E4A

种属: Homo sapiens

同用名: E4; UFD2; UBOX2; NEDHMS

基因 ID: 9354 | 基因类型: protein coding

关于 UBE4A

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,359,600-118,399,211 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 15.5), appendix (RPKM 14.1) and 25 other tissues.

功能概要

该基因编码 U-box 泛素连接酶家族的成员。编码的蛋白质参与多泛素链组装，并通过 securin 的多泛素化在染色体浓缩和分离中发挥关键作用。针对编码蛋白的自身抗体可能是硬皮病和克罗恩病的标志物。该基因的假基因位于 3 号染色体的长臂上。已观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 2 月]

This gene encodes a member of the U-box ubiquitin Ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

UBE4A 基因产物(2)

mRNA Protein Name
NM_001204077.2 NP_001191006.1 ubiquitin conjugation factor E4 A isoform 2
NM_004788.4 NP_004779.2 ubiquitin conjugation factor E4 A isoform 1
基因本体论
  • 分子功能
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
21903422 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

UBE4A 蛋白结构

Ufd2P_core

Ufd2P_core: Ubiquitin elongating factor core (330 - 972)

U-box

U-box: U-box domain (988 - 1059)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1066 a.a.
蛋白主名 其他名称

ubiquitin conjugation factor E4 A

RING-type E3 ubiquitin transferase E4 A

UBE4A 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 UBE4A Q14139 IP6K1 Homo sapiens Q92551
Anti Tag CoIP
33961781
Intra UBE4A Q14139 IP6K1 Homo sapiens Q92551
Validated Y2H
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
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay

NEDHMS

Neurodevelopmental Disorder With Hypotonia And Gross Motor And Seech Delay
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Rare Pervasive Developmental Disorder

Rare Asd

Rare Pdd

Rare Autism Spectrum Disorder
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders
Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
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
Nonaka Myopathy

Gne Myopathy

Hibm

Distal Myopathy With Rimmed Vacuoles

Hereditary Inclusion Body Myopathy

Ibm2

Inclusion Body Myopathy, Quadriceps-Sparing

Qsm

Dmrv

Distal Myopathy, Nonaka Type

Inclusion Body Myopathy 2

Inclusion Body Myopathy, Autosomal Recessive

NM

Nonaka Distal Myopathy

Myopathy, Distal, With Or Without Rimmed Vacuoles

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Ibm2, Formerly

Hibm2

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2, Autosomal Recessive

Myopathy, Distal, With Rimmed Vacuoles

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Inclusion Body, Type 2

Myopathy, Nonaka
Cystadenocarcinoma
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15371 UBE4A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus UBE4A VGNC VGNC:36603
Felis catus UBE4A VGNC VGNC:66771
Canis familiaris UBE4A VGNC VGNC:48072
Rattus norvegicus UBE4A RGD RGD:1303173
Macaca mulatta UBE4A VGNC VGNC:78699
Mus musculus UBE4A MGD MGI:2154580
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