2. Gene
  3. ERCC5 - ERCC excision repair 5, endonuclease Gene

ERCC5 - ERCC excision repair 5, endonuclease Gene

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

中文名称：ERCC 切除修复 5、核酸内切酶

种属: Homo sapiens

同用名: XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201

基因 ID: 2073 | 基因类型: protein coding

关于 ERCC5

Cytogenetic location: 13q33.1 Genomic coordinates (GRCh38): 13:102,846,032-102,875,995 (from NCBI)

This gene has 18 transcripts (splice variants), 241 orthologues, 1 paralogue and is associated with 100 phenotypes. Ubiquitous expression in lymph node (RPKM 16.5), duodenum (RPKM 16.5) and 25 other tissues.

功能概要

该基因编码一种单链特异性 DNA 核酸内切酶，该酶在紫外线诱导的损伤后在 DNA 切除修复中形成 3' 切口。该蛋白质还可能在其他细胞过程中发挥作用，包括 RNA 聚合酶 II 转录和转录偶联的 DNA 修复。该基因的突变导致着色性干皮病互补组 G (XP-G) ，也称为着色性干皮病 VII (XP7) ，这是一种皮肤病，其特征是对紫外线过敏，并且在暴露于紫外线后更易患皮肤癌。一些患者还会出现 Cockayne 综合征，其特征是严重的生长缺陷、认知障碍和恶病质。通读转录存在于该基因和相邻的上游 BIVM (含有基本的、免疫球蛋白样可变基序) 基因之间。[RefSeq 提供，2011 年 2 月]

This gene encodes a single-strand specific DNA Endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in Other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin Cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

ERCC5 基因产物(1)

mRNA Protein Name
NM_000123.4 NP_000114.3 DNA excision repair protein ERCC-5
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 DNA endonuclease activity IDA
IDA: 通过直接分析推断
8090225 GOA
enables RNA polymerase II complex binding IDA
IDA: 通过直接分析推断
16246722 GOA
enables bubble DNA binding IDA
IDA: 通过直接分析推断
16246722 GOA
enables damaged DNA binding IDA
IDA: 通过直接分析推断
32821917 GOA
enables double-stranded DNA binding IDA
IDA: 通过直接分析推断
8090225 GOA
enables endonuclease activity IDA
IDA: 通过直接分析推断
32522879 GOA
enables enzyme activator activity IDA
IDA: 通过直接分析推断
9927729 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8652557 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
10026181 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
11259578 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
12644470 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in base-excision repair, AP site formation IDA
IDA: 通过直接分析推断
9927729 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
26833090 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
16167068 GOA
involved in nucleotide-excision repair IDA
IDA: 通过直接分析推断
8090225 GOA
involved in nucleotide-excision repair IMP
IMP: 通过突变表型推断
7657672 GOA
involved in response to UV IDA
IDA: 通过直接分析推断
8710877 GOA
involved in response to UV IMP
IMP: 通过突变表型推断
16167068 GOA
involved in response to UV-C IMP
IMP: 通过突变表型推断
17208056 GOA
involved in transcription-coupled nucleotide-excision repair IMP
IMP: 通过突变表型推断
16246722 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA replication factor A complex IDA
IDA: 通过直接分析推断
7700386 GOA
part of nucleotide-excision repair complex IDA
IDA: 通过直接分析推断
11259578 GOA
located in nucleus IDA
IDA: 通过直接分析推断
8710877 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
26833090 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

ERCC5 蛋白结构

XPG_N

XPG_N: XPG N-terminal domain (1 - 96)

XPG_I

XPG_I: XPG I-region (777 - 861)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1186 a.a.
蛋白主名 其他名称

DNA excision repair protein ERCC-5

DNA repair protein complementing XP-G cells

关联疾病

疾病名称 别名
Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome
Cerebrooculofacioskeletal Syndrome 3

COFS3

Cerebro-Oculo-Facio-Skeletal Syndrome 3
Xeroderma Pigmentosum-Cockayne Syndrome Complex

Xp/Cs Complex
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
Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2
Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes
Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum
Polyneuropathy

Polyneuropathies
Hepatoblastoma
Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2
Dyskeratosis Congenita, Autosomal Dominant 2

Autosomal Recessive Dyskeratosis Congenita 4

DKCA2

Autosomal Dominant Dyskeratosis Congenita 2

DKCB4

Dyskeratosis Congenita, Autosomal Dominant, 2

Dyskeratosis Congenita Scoggins Type

Dyskeratosis Congenita, Autosomal Recessive, 4

Dyskeratosis Congenita, Autosomal Recessive 4

Dyskeratosis Congenita, Autosomal Dominant, Type 2
Xeroderma Pigmentosum, Complementation Group E

Xeroderma Pigmentosum V

Xp5

Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype

Xpe

Xp, Group E

Xeroderma Pigmentosum, Type 5

Xeroderma Pigmentosum Complementation Group E

XP-E

Xp Group E
Xeroderma Pigmentosum, Complementation Group F

Xeroderma Pigmentosum, Group F

Xeroderma Pigmentosum Vi

Xp6

Xeroderma Pigmentosum, Type F/Cockayne Syndrome

XPF

Xp, Group F

Xeroderma Pigmentosum Group F

Xp Group F

Xeroderma Pigmentosum, Type 6

Xeroderma Pigmentosum Complementation Group F

XP-F

Xeroderma Pigmentosum Type F/Cockayne Syndrome

XPF/CS
Xfe Progeroid Syndrome

Xpf-Ercc1 Progeroid Syndrome

XFEPS
Xeroderma Pigmentosum, Complementation Group A

Xeroderma Pigmentosum Group A

Xp1

Xeroderma Pigmentosum, Group A

XPA

Xeroderma Pigmentosum I

Xeroderma Pigmentosum Complementation Group A

Xp Group A

Xp, Group A

Xeroderma Pigmentosum 1

Xeroderma Pigmentosum, Type 1

XP-A
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS04482 ERCC5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ERCC5 RGD RGD:1586176
Mus musculus ERCC5 MGD MGI:103582
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z