UBA1 - ubiquitin like modifier activating enzyme 1 Gene

中文名称：泛素样修饰激活酶 1

种属: Homo sapiens

同用名: A1S9; A1ST; GXP1; UBE1; A1S9T; AMCX1; POC20; SMAX2; UBA1A; UBE1X; VEXAS; CFAP124

基因 ID: 7317 | 基因类型: protein coding

关于 UBA1

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:47,190,847-47,215,128 (from NCBI)

Ubiquitous expression in thyroid (RPKM 27.6), brain (RPKM 26.8) and 25 other tissues.

功能概要

由该基因编码的蛋白质催化泛素结合的第一步，以标记细胞蛋白质降解。该基因补充了 DNA 合成中的 X 连锁小鼠温度敏感缺陷，因此可能在 DNA 修复中发挥作用。它是染色体 Xp11.23 上基因簇的一部分。已经描述了编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to MARK cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

UBA1 基因产物(2)

mRNA	Protein	Name
NM_003334.4	NP_003325.2	ubiquitin-like modifier-activating enzyme 1
NM_153280.3	NP_695012.1	ubiquitin-like modifier-activating enzyme 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	16227972	GOA
enables ubiquitin activating enzyme activity	IDA IDA: 通过直接分析推断	12629039	GOA
enables ubiquitin activating enzyme activity	IMP IMP: 通过突变表型推断	33108101	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	22456334	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	1376922	GOA
located in cytoplasm	IMP IMP: 通过突变表型推断	33108101	GOA
colocalizes with desmosome	IDA IDA: 通过直接分析推断	1376922	GOA
colocalizes with endosome membrane	IDA IDA: 通过直接分析推断	1376922	GOA
colocalizes with heterochromatin	IDA IDA: 通过直接分析推断	1376922	GOA
colocalizes with lysosomal membrane	IDA IDA: 通过直接分析推断	1376922	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	1376922	GOA
located in nucleus	IDA IDA: 通过直接分析推断	1376922	GOA
located in nucleus	IMP IMP: 通过突变表型推断	33108101	GOA
colocalizes with rough endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	1376922	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

UBA1 蛋白结构

ThiF

UBA_e1_thiolCys

E1_UFD

0
200
400
600
800
1000
1058 a.a.

蛋白主名

其他名称

ubiquitin-like modifier-activating enzyme 1

A1S9T and BN75 temperature sensitivity complementing

UBA1 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	UBA1	P22314	HTT	Homo sapiens	P42858	Validated Y2H	32814053
种属内	UBA1	P22314	HTT	Homo sapiens	P42858	Y2H Array	32814053
种属内	UBA1	P22314	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
种属内	UBA1	P22314	GAN	Homo sapiens	Q9H2C0	Y2H	16227972

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 UBA1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74485	UBA1 Protein, Human (sf9, His-GST)	P22314 (S2-R1058)	≥95%

UBA1 抗体

目录号	产品名	应用	反应物种
HY-P82072	E1 Ubiquitin Activating Enzyme Antibody (YA1817)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Vexas Syndrome

VEXAS	Vexas Syndrome, Somatic
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome	Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic

Spinal Muscular Atrophy, X-Linked 2

SMAX2	Arthrogryposis Multiplex Congenita, Distal, X-Linked
Infantile-Onset X-Linked Spinal Muscular Atrophy	Xlsma
Amcx1	Spinal Muscular Atrophy, X-Linked Lethal Infantile
Spinal Muscular Atrophy, Infantile X-Linked	Amc, Distal, X-Linked
Spinal Muscular Atrophy, X-Linked 2, Infantile	X-Linked Spinal Muscular Atrophy 2
Spinal Muscular Atrophy With Arthrogryposis	X-Linked Distal Arthrogryposis Multiplex Congenita
X-Linked Spinal Muscular Atrophy Type 2	Xl-Sma
Arthrogryposis, X-Linked, Type I	Spinal Muscular Atrophy, X-Linked Infantile
X-Linked Infantile Spinal Muscular Atrophy	Arthrogryposis, X-Lined, Type I
Distal X-Linked Amc	Infantile X-Linked Sma
X-Linked Arthrogryposis Multiplex Congenita	X-Linked Arthrogryposis Type I
X-Linked Lethal Infantile Sma	Arthrogryposis Spinal Muscular Atrophy
Spinal Muscular Atrophy X-Linked 2	Amc Distal X-Linked
Arthrogryposis Multiplex Congenita Distal X-Linked	Arthrogryposis X-Linked Type I
Spinal Muscular Atrophy Infantile X-Linked	Spinal Muscular Atrophy X-Linked Lethal Infantile
Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile

Chondromalacia

Chondromalacia, Unspecified Site

Chondromalacia Nos

Vasculitis

Angiitis	Autoimmune Vasculitis
Systemic Vasculitis	Vasculitis, Autoimmune

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Relapsing Polychondritis

Polychondropathia	Polychondritis, Relapsing
Chondromalacia, Systemic	Chronic Atrophic Polychondritis
Recurrent Polychondritis	Polychondritis Relapsing

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

Neutrophilic Dermatosis, Acute Febrile

Sweet Syndrome	Acute Febrile Neutrophilic Dermatosis
Ss	AFND
Pyrin-Associated Autoinflammatory Disease	PAAND
Gomm-Button Disease	Sweet'S Syndrome
Gomm Button Disease	Sweets Syndrome
Acromelic Frontonasal Dysostosis	Sweet Disease

Congenital Contractures

Congenital Contracture

Cartilage Disease

Cartilage Diseases	Cartilage
Cartilage Disorder	Chondropathy
Cartilage Disorders

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease	SMA1
Spinal Muscular Atrophy 1	Sma I
Sma, Infantile Acute Form	Muscular Atrophy, Infantile
Spinal Muscular Atrophy-1	Hmn Proximal Type I
Infantile Muscular Atrophy	Proximal Spinal Muscular Atrophy Type 1
Sma Type 1	Sma Type I
Sma-I	Hereditary Motor Neuropathy Proximal Type I
Progressive Muscular Atrophy Of Infancy	Proximal Spinal Muscular Atrophy, Type 1
Werdnig Hoffmann Disease	Infantile Spinal Muscular Atrophy
Infantile-Onset Spinal Muscular Atrophy	Proximal Hereditary Motor Neuropathy Type I
Sma Infantile Acute Form	Spinal Muscular Atrophy Type I
Werdnig-Hoffman Disease	Atrophy, Muscular, Spinal, Type 1

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

目录号	产品名	作用方式	纯度	Phase
HY-100487	TAK-243		98.38%	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-13297	PYZD-4409	Inhibitor	≥98.0%	否
HY-RS15319	UBA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-103436	NSC624206	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	UBA1	RGD	RGD:1359327
Macaca mulatta	UBA1	VGNC	VGNC:78688
Felis catus	UBA1	VGNC	VGNC:66746
Mus musculus	UBA1	MGD	MGI:98890
Bos taurus	UBA1	VGNC	VGNC:36561
Canis familiaris	UBA1	VGNC	VGNC:48036
Others	UBA1	NCBI

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