ERCC1基因详情-基因数据库-基因云馆

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)

symbol:: ERCC1
locus group:: protein-coding gene
location:: 19q13.32
gene_family:
alias symbol:: RAD10
alias name:: None
entrez id:: 2067
ensembl gene id:: ENSG00000012061
ucsc gene id:: uc002pbs.3
refseq accession:: NM_001983
hgnc_id:: HGNC:3433
approved reserved:: 2001-06-22

19q13.32

ERCC1（Excision Repair Cross-Complementation Group 1）是核苷酸切除修复（NER）途径中的关键基因，负责修复DNA损伤，特别是由紫外线或化学诱变剂引起的DNA交联和损伤。ERCC1与XPF（ERCC4）形成异源二聚体复合物，作为结构特异性内切酶，在DNA损伤位点的5'端进行切割，从而启动损伤片段的移除和修复。该基因在维持基因组稳定性中起核心作用，其功能缺陷会导致DNA损伤积累，增加突变风险。ERCC1的突变与多种疾病相关，最显著的是着色性干皮病（XP）、科凯恩综合征（CS）和毛发硫营养不良症（TTD），这些疾病表现为对紫外线敏感、早衰或神经发育异常。此外，ERCC1表达水平与癌症密切相关，低表达可能导致修复能力下降，促进肿瘤发生；而过表达则可能与化疗耐药性相关（如铂类药物），因修复能力增强而削弱治疗效果。ERCC1属于NER通路基因家族，该家族成员（如XPA、XPC、ERCC2-XPG等）共同参与识别、解旋和切除受损DNA片段。基因家族共性包括依赖多蛋白协作完成损伤识别、局部DNA解链及损伤链切除。ERCC1的表达水平变化会影响其他NER基因的协同效率，例如其下调可能导致整个修复通路功能受损，而上调可能干扰正常细胞凋亡信号。研究还发现ERCC1在衰老过程中表达下降，与线粒体功能障碍和氧化应激加剧相关。因此，ERCC1不仅是DNA修复的核心分子，也是癌症治疗耐药性和衰老研究的潜在靶点。

中文English

在核苷酸切除修复途径此基因功能的产物，并且需要对DNA损伤的修复，例如由紫外线引起的或形成的由电子化合物包括顺铂。所编码的蛋白与所述XPF核酸内切酶（也称为ERCC4）的异二聚体，并且该异二聚体内切核酸酶催化的5‘切口在切除的DNA损伤的过程。异二聚体内切核酸酶也参与重组DNA修复和在内部链交联的修复。该改变该基因表达的突变在该基因导致cerebrooculofacioskeletal综合征和多态性可能在肿瘤中发挥作用。已发现该基因编码不同亚型的多个抄本变形。该基因的最后的外显子上的相反stran的CD3e分子，小量相关蛋白基因重叠?。 [由RefSeq的，2009年10月提供]

OMIM数据库中对ERCC1基因的介绍 Wikipedia数据库中对ERCC1基因的介绍

ERCC1基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MDPGKDKEGV PQPSGPPARK KFVIPLDEDE VPPGVAKPLF
41RSTQSLPTVD TSAQAAPQTY AEYAISQPLE GAGATCPTGS
81
EPLAGETPN QALKPGAKSN SIIVSPRQRG NPVLKFVRNV
121PWEFGDVIPD YVLGQSTCAL FLSLRYHNLH PDYIHGRLQS
161L
GKNFALRV LLVQVDVKDP QQALKELAKM CILADCTLIL
201AWSPEEAGRY LETYKAYEQK PADLLMEKLE QDFVSRVTEC
241LT
TVKSVNK TDSQTLLTTF GSLEQLIAAS REDLALCPGL
281GPQKARRLFD VLHEPFLKVP

结构预测来自 AlphaFold DB（UniProt: P07992），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

ERCC1基因的碱基突变：仅显示部分snp

rs735482 rs743571 rs762562 rs1007616 rs1046282 rs2013521 rs2229918 rs2336219 rs3212983 rs3212984 rs3212985 rs3212986 rs3212988 rs3212989 rs4803818 rs7507745 rs8103749

ERCC1基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

CAGGTGGATGTGAAAGATCC

CGAGGATCAATGTGCAGTC

ACCTACAAGGCCTATGAGC

TCAGACATTCAGTCACCCG

ACCTACAAGGCCTATGAGC

TCAGACATTCAGTCACCCG

CAGGTGGATGTGAAAGATCC

CGAGGATCAATGTGCAGTC

CTGGGACTACAGGTGACTG

TCCAAATGTGGTCAGGAGG

CAGGTGGATGTGAAAGATCC

CGAGGATCAATGTGCAGTC

ACCCAGACTACATCCATGG

CTGTTCCAGAGACTCCAGG

CGTAATTCCCGACTATGTGC

GTAGCGGAGGCTAGAAGAC

GTGACTGAATGTCTGACCAC

TTCCAGAGATCCAAATGTGGT

ACCTACAAGGCCTATGAGC

TCAGACATTCAGTCACCCG

转录因子

影响基因

影响类型

参考文献链接（PubMed）

E2F1

ERCC1

Activation

22159227

KAT5

ERCC1

Activation

22159227

ERCC1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

ERCC1基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0003684

K7EJL2 (UniProtKB)

IEA

GO:0004519

K7EJL2 (UniProtKB)

IEA

GO:0005634

K7EJL2 (UniProtKB)

IEA

GO:0006281

K7EJL2 (UniProtKB)

IEA

GO:0090305

K7EJL2 (UniProtKB)

IEA

GO:0003684

K7EJW9 (UniProtKB)

IEA

GO:0004519

K7EJW9 (UniProtKB)

IEA

GO:0005634

K7EJW9 (UniProtKB)

IEA

GO:0006281

K7EJW9 (UniProtKB)

IEA

GO:0090305

K7EJW9 (UniProtKB)

IEA

GO:0003684

K7EK97 (UniProtKB)

IEA

GO:0004519

K7EK97 (UniProtKB)

IEA

GO:0005634

K7EK97 (UniProtKB)

IEA

GO:0006281

K7EK97 (UniProtKB)

IEA

GO:0090305

K7EK97 (UniProtKB)

IEA

GO:0003684

K7EMT9 (UniProtKB)

IEA

GO:0004519

K7EMT9 (UniProtKB)

IEA

GO:0005634

K7EMT9 (UniProtKB)

IEA

GO:0006281

K7EMT9 (UniProtKB)

IEA

GO:0090305

K7EMT9 (UniProtKB)

IEA

GO:0003684

K7EP14 (UniProtKB)

IEA

GO:0004519

K7EP14 (UniProtKB)

IEA

GO:0005654

K7EP14 (UniProtKB)

IDA

GO:0006281

K7EP14 (UniProtKB)

IEA

GO:0090305

K7EP14 (UniProtKB)

IEA

GO:0003684

K7ER60 (UniProtKB)

IEA

GO:0004519

K7ER60 (UniProtKB)

IEA

GO:0005654

K7ER60 (UniProtKB)

IDA

GO:0006281

K7ER60 (UniProtKB)

IEA

GO:0090305

K7ER60 (UniProtKB)

IEA

GO:0003684

K7ER89 (UniProtKB)

IEA

GO:0004519

K7ER89 (UniProtKB)

IEA

GO:0005654

K7ER89 (UniProtKB)

IDA

GO:0006281

K7ER89 (UniProtKB)

IEA

GO:0090305

K7ER89 (UniProtKB)

IEA

GO:0003684

K7ES46 (UniProtKB)

IEA

GO:0004519

K7ES46 (UniProtKB)

IEA

GO:0005654

K7ES46 (UniProtKB)

IDA

GO:0005737

K7ES46 (UniProtKB)

IDA

GO:0006281

K7ES46 (UniProtKB)

IEA

GO:0090305

K7ES46 (UniProtKB)

IEA

GO:0000109

P07992 (UniProtKB)

IDA

GO:0000109

P07992 (UniProtKB)

IDA

GO:0000109

P07992 (UniProtKB)

IDA

GO:0000110

P07992 (UniProtKB)

IDA

GO:0000720

P07992 (UniProtKB)

IEA

GO:0000784

P07992 (UniProtKB)

IDA

GO:0001094

P07992 (UniProtKB)

IEA

GO:0001302

P07992 (UniProtKB)

IEA

GO:0003684

P07992 (UniProtKB)

IDA

GO:0003697

P07992 (UniProtKB)

IDA

GO:0003697

P07992 (UniProtKB)

IDA

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005515

P07992 (UniProtKB)

IPI

GO:0005654

P07992 (UniProtKB)

IDA

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005654

P07992 (UniProtKB)

TAS

GO:0005669

P07992 (UniProtKB)

IEA

GO:0005737

P07992 (UniProtKB)

IDA

GO:0006281

P07992 (UniProtKB)

IMP

GO:0006283

P07992 (UniProtKB)

TAS

GO:0006289

P07992 (UniProtKB)

IGI

GO:0006289

P07992 (UniProtKB)

IDA

GO:0006293

P07992 (UniProtKB)

TAS

GO:0006295

P07992 (UniProtKB)

IMP

GO:0006295

P07992 (UniProtKB)

TAS

GO:0006296

P07992 (UniProtKB)

IMP

GO:0006296

P07992 (UniProtKB)

TAS

GO:0006302

P07992 (UniProtKB)

IEA

GO:0006310

P07992 (UniProtKB)

IGI

GO:0006312

P07992 (UniProtKB)

IMP

GO:0006949

P07992 (UniProtKB)

IEA

GO:0006979

P07992 (UniProtKB)

IMP

GO:0006979

P07992 (UniProtKB)

IMP

GO:0007283

P07992 (UniProtKB)

IEA

GO:0007584

P07992 (UniProtKB)

IEA

GO:0008022

P07992 (UniProtKB)

IPI

GO:0008283

P07992 (UniProtKB)

IEA

GO:0008584

P07992 (UniProtKB)

IEA

GO:0009650

P07992 (UniProtKB)

IEA

GO:0009744

P07992 (UniProtKB)

IEA

GO:0010165

P07992 (UniProtKB)

IEA

GO:0010259

P07992 (UniProtKB)

IEA

GO:0019904

P07992 (UniProtKB)

IPI

GO:0032205

P07992 (UniProtKB)

IMP

GO:0033683

P07992 (UniProtKB)

TAS

GO:0035166

P07992 (UniProtKB)

IEA

GO:0035264

P07992 (UniProtKB)

IEA

GO:0036297

P07992 (UniProtKB)

TAS

GO:0045190

P07992 (UniProtKB)

IEA

GO:0048477

P07992 (UniProtKB)

IEA

GO:0048568

P07992 (UniProtKB)

IEA

GO:0070522

P07992 (UniProtKB)

IDA

GO:0070911

P07992 (UniProtKB)

TAS

GO:0090656

P07992 (UniProtKB)

ISS

GO:1904431

P07992 (UniProtKB)

ISS

GO:0000014

P07992 (UniProtKB)

IDA

GO:0043566

P07992 (UniProtKB)

IDA

可能调控 ERCC1基因的相关microRNA：

hsa-let-7b hsa-miR-296-3p

String

BioGrid

IntAct

mentha

MINT

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
3420 Nucleotide excision repair [PATH:hsa03420]
3460 Fanconi anemia pathway [PATH:hsa03460]

名称
DNA Repair
Dual incision reaction in GG-NER
Dual incision reaction in TC-NER
Formation of incision complex in GG-NER
Formation of transcription-coupled NER (TC-NER) repair complex
Global Genomic NER (GG-NER)
Nucleotide Excision Repair
Transcription-coupled NER (TC-NER)

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
CEREBROOCULOFACIOSKELETAL SYNDROME 4	0.36	1	2	CLINVAR_CTD_human_UNIPROT
Non-Small Cell Lung Carcinoma	0.156297266	126	22	BeFree_CTD_human_GAD
Stomach Neoplasms	0.134473634	8	0	BeFree_CTD_human_GAD
Neoplasm Metastasis	0.126448592	8	4	BeFree_CTD_human_GAD_LHGDN
melanoma	0.12554839	4	0	BeFree_CTD_human_GAD
Testicular Neoplasms	0.122995792	3	0	BeFree_CTD_human_LHGDN
Peripheral Neuropathy	0.122638474	1	0	BeFree_CTD_human_GAD
Chromosome Aberrations	0.122367032	2	0	CTD_human_GAD
Adenocarcinoma of lung (disorder)	0.121357209	6	0	BeFree_CTD_human
Nasopharyngeal carcinoma	0.121357209	6	2	BeFree_CTD_human

Pre-incision structures reveal principles of DNA nucleotide excision repair.

Li ECL, Kim J, Brussee SJ, Sugasawa K, Luijsterburg MS, Yang W Nature IF: 56.1 2026-04-00

Integrative Transcriptomic Analysis Identifies a Key Candidate Gene Bridging Inflammation and DNA Repair in Endometriosis.

Wang J, Li W, Feng J, Wang Z Stem Cells Int IF: 3.6 None

CRISPR Screening Identifies SMARCAL1 and MRN as Modulators of WRN Dependency in MSI-H Colorectal Cancer.

Ma T, Wu J, Li S, Chen J Cancer Res IF: 22.6 2026-07-22

Dual-site phosphorylation of SLX4 stabilizes the SLX4-MUS81 interface to promote mitotic SMX assembly and genome protection.

Payliss BJ, Yun HY, Doshi S, Lemak A, Tse YWE, Aprosoff CM, Houliston S, Arrowsmith CH, Wyatt HDM Nucleic Acids Res IF: 15.0 2026-05-05

Molecular profiling of breast cancer in native American women reveals distinct genomic and transcriptomic features.

Guo F, Littlepage LE, Stack MS, Li J NPJ Precis Oncol 2026-03-17

Tagln1-Cre driven Ercc1 deficiency reveals sex specific effects on adipose tissue in mice.

Jüttner AA, Delhanty PJD, Raben JD, Goos Y, McLuskey-Dankbar A, Boon Y, de Vries R, von der Thüsen J, Danser AHJ, Roks AJM, Visser JA Endocrinology IF: 3.8 2026-09-16

Rad1-Rad10 uses different interfaces to interact with pathway-specific DNA repair factors.

Rodríguez González J, Herman OT, Lewis KE, Matthews LA, Hess LD, Surtees JA, Guarné A Nucleic Acids Res IF: 15.0 2026-09-07

Comprehensive Investigation of a Novel Schiff Base: Synthesis, Anticancer Efficacy, Gene Expression Profiling, and Computational Analyses.

Agbektas T, Pazarcı Ö, Tas A, Huseynzada A, Guliyev R, Hasanova U, Buluz EC, Kaya S, Morales-Bayuelo A, Silig Y Pharmaceuticals (Basel) 2026-02-18

Pan-cancer multi-omics analysis of pharmacogenomic alterations.

AlMulla A, Kaur S, Balyan P, Al-Saafin S, Balyan MK, Velayutham D, Jithesh PV Front Bioinform None

Cyclin D1 regulates the hepatic response to feeding: Evidence for non-cell cycle roles in the liver.

Wu H, Hauser JI, Yang N, Timchenko N, Klaers M, Salekeen R, Manivel JC, Abrahante JE, Laux L, Yousefzadeh MJ, Schonfeld MP, Tikhanovich I, Ikramuddin S, Monga SS, Adeyi OA, Niedernhofer LJ, Sen P, Gill MS, Albrecht JH bioRxiv 2026-05-28

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ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

联系地址

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