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  2. NEIL1 - nei like DNA glycosylase 1 Gene

NEIL1 - nei like DNA glycosylase 1 Gene

中文名称:nei 样 DNA 糖基化酶 1

种属: Homo sapiens

同用名: FPG1; NEI1; hFPG1

基因 ID: 79661 | 基因类型: protein coding

关于 NEIL1

Cytogenetic location: 15q24.2 Genomic coordinates (GRCh38): 15:75,347,039-75,357,115 (from NCBI)

This gene has 24 transcripts (splice variants), 186 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 8.2), bone marrow (RPKM 5.5) and 25 other tissues.

功能概要

该基因是编码 DNA 糖基化酶的 Nei 内切核酸酶 VIII 样基因家族的成员。编码的酶通过去除受损碱基 (主要是氧化嘧啶) 启动碱基切除修复,从而参与 DNA 修复途径。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2012 年 2 月]

This gene is a member of the Nei Endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded Enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged Bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

NEIL1 基因产物(4)

mRNA Protein Name
NM_001256552.1 NP_001243481.1 endonuclease 8-like 1 isoform 1
NM_001352519.2 NP_001339448.1 endonuclease 8-like 1 isoform 4
NM_001352520.2 NP_001339449.1 endonuclease 8-like 1 isoform 5
NM_024608.4 NP_078884.2 endonuclease 8-like 1 isoform 2
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 hydrolase activity, acting on glycosyl bonds IDA
IDA: 通过直接分析推断
17611195 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17611195 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
17611195 GOA
involved in negative regulation of nuclease activity IDA
IDA: 通过直接分析推断
17611195 GOA
involved in response to oxidative stress IDA
IDA: 通过直接分析推断
17611195 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
17611195 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17611195 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

NEIL1 蛋白结构

Fapy_DNA_glyco

Fapy_DNA_glyco: Formamidopyrimidine-DNA glycosylase N-terminal domain (2 - 123)

H2TH

H2TH: Formamidopyrimidine-DNA glycosylase H2TH domain (149 - 199)

Neil1-DNA_bind

Neil1-DNA_bind: Endonuclease VIII-like 1, DNA bind (252 - 290)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
蛋白主名 其他名称

endonuclease 8-like 1

DNA endonuclease eight-like glycosylase 1

重组 NEIL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74734 NEIL1 Protein, Human (His) Q96FI4 (M1-S390) ≥95%

关联疾病

疾病名称 别名
Congenital Disorder Of Deglycosylation 2

CDDG2

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

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

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

Cockayne Syndrome B

Cockayne Syndrome Type 2

Cockayne Syndrome, Type B

Cockayne Syndrome Type Ii

CSB

Cockayne Syndrome 2

Cockayne Syndrome Type B

Ckn2

Cockayne Syndrome, Type Ii

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1

Ataxia-Telangiectasia-Like Disorder

EAOH

Eoca-Ha

Ataxia With Oculomotor Apraxia Type 1

Ataxia-Oculomotor Apraxia 1

Ataxia-Oculomotor Apraxia Syndrome

AOA

Ataxia-Telangiectasia-Like Syndrome

Ataxia-Oculomotor Apraxia Type 1

Ataxia With Oculomotor Apraxia

Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

Early-Onset Cerebellar Ataxia With Hypoalbuminemia

Adult Onset Ataxia With Oculomotor Apraxia

Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

Scan2

Scar1

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

Atld

Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

Cerebellar Ataxia Early-Onset With Hypoalbuminemia

Ataxia-Oculomotor Apraxia

Spinocerebellar Ataxia, Autosomal Recessive 1

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

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
Macaca mulatta NEIL1 VGNC VGNC:75208
Felis catus NEIL1 VGNC VGNC:63767
Rattus norvegicus NEIL1 RGD RGD:1306077
Canis familiaris NEIL1 VGNC VGNC:43726
Mus musculus NEIL1 MGD MGI:1920024
Bos taurus NEIL1 VGNC VGNC:31988
Others NEIL1 NCBI