1. Gene
  2. UNG - uracil DNA glycosylase Gene

UNG - uracil DNA glycosylase Gene

中文名称:尿嘧啶 DNA 糖基化酶

种属: Homo sapiens

同用名: DGU; UDG; UNG1; UNG2; HIGM4; HIGM5; UNG15

基因 ID: 7374 | 基因类型: protein coding

关于 UNG

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,097,597-109,110,992 (from NCBI)

This gene has 14 transcripts (splice variants), 223 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 23.4), testis (RPKM 16.9) and 25 other tissues.

功能概要

该基因编码几种尿嘧啶-DNA 糖基化酶中的一种。尿嘧啶-DNA 糖基化酶的一项重要功能是通过切割 N-糖基键并启动碱基切除修复 (BER) 途径从 DNA 分子中消除尿嘧啶来防止诱变。尿嘧啶碱基来自胞嘧啶脱氨或 dUMP 残基的错误掺入。该基因的替代启动子使用和剪接导致两种不同的亚型:线粒体 UNG1 和核 UNG2。在文献和一些数据库中,UNG2 术语被用作 CCNO 基因 (GeneID 10309) 的前一个符号,该基因已与该基因混淆。[RefSeq 提供,2010 年 11 月]

This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil Bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]

UNG 基因产物(2)

mRNA Protein Name
NM_003362.4 NP_003353.1 uracil-DNA glycosylase isoform UNG1 precursor
NM_080911.3 NP_550433.1 uracil-DNA glycosylase isoform UNG2
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 damaged DNA binding IDA
IDA: 通过直接分析推断
18973764 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10982866 GOA
enables ribosomal small subunit binding IPI
IPI: 通过物理相互作用推断
18973764 GOA
enables uracil DNA N-glycosylase activity IDA
IDA: 通过直接分析推断
12161446 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in base-excision repair IDA
IDA: 通过直接分析推断
12161446 GOA
involved in base-excision repair, AP site formation via deaminated base removal IDA
IDA: 通过直接分析推断
18973764 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleoplasm IDA
IDA: 通过直接分析推断
12161446 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

UNG 蛋白结构

UDG

UDG: Uracil DNA glycosylase superfamily (144 - 301)

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

uracil-DNA glycosylase

uracil-DNA glycosylase 1, uracil-DNA glycosylase 2

UNG 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
UNG P13051 RPA2 Homo sapiens P15927
NMR
24910198
种属内
UNG P13051 RPA2 Homo sapiens P15927
Y2H
10982866
种属内
UNG P13051 RPA2 Homo sapiens P15927
ITC
24910198
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 UNG 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73562 UNG Protein, Human (His) P13051-2 (F85-L304) ≥95%

UNG 抗体

目录号 产品名 应用 反应物种
HY-P82853 Uracil DNA Glycosylase Antibody (YA2598) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Immunodeficiency With Hyper-Igm, Type 5

HIGM5

Hyper-Igm Syndrome 5

Immunodeficiency With Hyper Igm Type 5

Hyper-Igm Syndrome Type 5

Hyper-Igm Syndrome Due To Ung Deficiency

Hyper-Igm Syndrome Due To Uracil N-Glycosylase

Immunodeficiency With Hyper Igm, Type 5

Hyper Igm Syndrome 5

Immunodeficiency With Hyper-Igm 5

Hyper-Igm Immunodeficiency Type 5

Immunodeficiency, With Hyper Igm, Type 5

Hyper-Igm Immunodeficiency Syndrome, Type 5

Immunodeficiency With Hyper-Igm, Type 1

Immunodeficiency, X-Linked, With Hyper-Igm

Hyper Igm Syndrome

HIGM1

Xhim

Hyper-Igm Syndrome

Higm

Hyper-Igm Syndrome 1

Immunodeficiency 3

Imd3

Immunodeficiency With Hyper-Igm

Immunodeficiency With Hyper Igm Type 1

Ihis

X-Linked Hyper Igm Syndrome

Hyper-Igm Immunodeficiency, X-Linked

Hyper Igm Immunodeficiency, X-Linked

Hyper Igm Syndrome 1

X-Linked Immunodeficiency With Hyper-Igm 1

Immunodeficiency, With Hyper Igm

Immunodeficiency, With Hyper Igm, Type 1

Hyper-Igm Immunodeficiency Syndrome, Type 1

Hyperimmunoglobulin M Syndrome

Immunodeficiency With Hyper-Igm, Type 4

HIGM4

Hyper-Igm Syndrome Type 4

Immunodeficiency With Hyper-Igm Type 4

Hyper-Igm Syndrome 4

Immunodeficiency With Hyper Igm Type 4

Hyper Igm Syndrome 4

Immunodeficiency, With Hyper Igm, Type 4

Immunodeficiency With Hyper-Igm, Type 2

HIGM2

Hyper-Igm Syndrome Type 2

Hyper-Igm Syndrome 2

Immunodeficiency With Hyper-Igm Type 2

Activation-Induced Cytidine Deaminase Deficiency

Aid Deficiency

Immunodeficiency With Hyper Igm Type 2

Hyper Igm Syndrome 2

Immunodeficiency With Hyper-Igm 2

Hyper-Igm Immunodeficiency Type 2

Immunodeficiency, With Hyper Igm, Type 2

Hyper-Igm Immunodeficiency Syndrome, Type 2

Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta

IMD25

Immunodeficiency, Type 25

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1

Spinocerebellar Ataxia With Axonal Neuropathy Type 1

Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy

Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy

Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy

Spinocerebellar Ataxia With Axonal Neuropathy

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy

Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Ichthyosis, Congenital, Autosomal Recessive 11

Autosomal Recessive Congenital Ichthyosis 11

Ichthyosis With Hypotrichosis, Autosomal Recessive

Arih

Ichthyosis And Follicular Atrophoderma With Hypotrichosis And Hypohidrosis

Autosomal Recessive Ichthyosis With Hypotrichosis

ARCI11

Ifah

Hypotrichosis-Congenital Ichthyosis Syndrome

Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome

Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome

Ichthyosis-Hypotrichosis Syndrome

Ifah Syndrome

Ihs

Ovarian Clear Cell Adenocarcinoma
Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1

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
Rattus norvegicus UNG RGD RGD:1307200
Canis familiaris UNG VGNC VGNC:48147
Macaca mulatta UNG VGNC VGNC:78725
Felis catus UNG VGNC VGNC:80543
Mus musculus UNG MGD MGI:109352
Bos taurus UNG VGNC VGNC:36677
Others UNG NCBI