1. Gene
  2. ERCC4 - ERCC excision repair 4, endonuclease catalytic subunit Gene

ERCC4 - ERCC excision repair 4, endonuclease catalytic subunit Gene

中文名称:ERCC 切除修复 4,核酸内切酶催化亚基

种属: Homo sapiens

同用名: XPF; RAD1; FANCQ; XFEPS; ERCC11

基因 ID: 2072 | 基因类型: protein coding

关于 ERCC4

Cytogenetic location: 16p13.12 Genomic coordinates (GRCh38): 16:13,920,154-13,952,348 (from NCBI)

This gene has 16 transcripts (splice variants), 220 orthologues and is associated with 91 phenotypes. Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 2.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质与 ERCC1 形成复合物,并参与核苷酸切除修复过程中的 5' 切口。该复合物是一种与 EME1 相互作用的结构特异性 DNA 修复核酸内切酶。该基因的缺陷是导致着色性干皮病互补组 F (XP-F) 或着色性干皮病 VI (XP6) 的原因。[RefSeq 提供,2009 年 3 月]

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair Endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

ERCC4 基因产物(1)

mRNA Protein Name
NM_005236.3 NP_005227.1 DNA repair endonuclease XPF
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
contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity IMP
IMP: 通过突变表型推断
14690602 GOA
contributes to DNA binding IDA
IDA: 通过直接分析推断
14734547 GOA
contributes to DNA endonuclease activity IDA
IDA: 通过直接分析推断
8797827 GOA
enables DNA endonuclease activity IDA
IDA: 通过直接分析推断
10413517 GOA
enables DNA endonuclease activity IMP
IMP: 通过突变表型推断
17055345 GOA
enables damaged DNA binding IMP
IMP: 通过突变表型推断
11790111 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22483113 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7559382 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
10413517 GOA
NOT enables telomerase inhibitor activity IDA
IDA: 通过直接分析推断
18812185 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IGI
IGI: 通过遗传相互作用推断
17055345 GOA
involved in DNA repair IMP
IMP: 通过突变表型推断
19596235 GOA
involved in cellular response to UV IDA
IDA: 通过直接分析推断
32034146 GOA
involved in cellular response to UV IGI
IGI: 通过遗传相互作用推断
17055345 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
14728600 GOA
involved in double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
14690602 GOA
involved in negative regulation of protection from non-homologous end joining at telomere IMP
IMP: 通过突变表型推断
14690602 GOA
involved in negative regulation of telomere maintenance IMP
IMP: 通过突变表型推断
17055345 GOA
involved in negative regulation of telomere maintenance via telomere lengthening IDA
IDA: 通过直接分析推断
18812185 GOA
acts upstream of or within nucleotide-excision repair IDA
IDA: 通过直接分析推断
10644440 GOA
involved in nucleotide-excision repair IDA
IDA: 通过直接分析推断
10413517 GOA
involved in nucleotide-excision repair IMP
IMP: 通过突变表型推断
8797827 GOA
involved in nucleotide-excision repair involved in interstrand cross-link repair IDA
IDA: 通过直接分析推断
32034146 GOA
involved in response to UV IMP
IMP: 通过突变表型推断
16678501 GOA
involved in telomere maintenance IGI
IGI: 通过遗传相互作用推断
17055345 GOA
involved in telomere maintenance IMP
IMP: 通过突变表型推断
14690602 GOA
involved in telomeric DNA-containing double minutes formation IMP
IMP: 通过突变表型推断
14690602 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ERCC4-ERCC1 complex IDA
IDA: 通过直接分析推断
14690602 GOA
part of ERCC4-ERCC1 complex IPI
IPI: 通过物理相互作用推断
16076955 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
14690602 GOA
part of nucleotide-excision repair complex IDA
IDA: 通过直接分析推断
10644440 GOA
part of nucleotide-excision repair factor 1 complex IDA
IDA: 通过直接分析推断
10413517 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12571280 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

ERCC4 蛋白结构

ERCC4

ERCC4: ERCC4 domain (686 - 814)

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

DNA repair endonuclease XPF

DNA excision repair protein ERCC-4

ERCC4 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
Intra ERCC4 Q92889 TACC1 Homo sapiens O75410-7
Y2H Prey Pooling
32296183
Intra ERCC4 Q92889 TACC1 Homo sapiens O75410-7
Y2H Array
32296183
Intra ERCC4 Q92889 SLX4 Homo sapiens Q8IY92
Y2H
19596236
Intra ERCC4 Q92889 SLX4 Homo sapiens Q8IY92
Anti Bait CoIP
19596235
Intra ERCC4 Q92889 SLX4 Homo sapiens Q8IY92
Anti Tag CoIP
33961781
Intra ERCC4 Q92889 SLX4 Homo sapiens Q8IY92
Anti Tag CoIP
19596235
Intra ERCC4 Q92889 ERCC1 Homo sapiens P07992
Anti Tag CoIP
33961781
Intra ERCC4 Q92889 ERCC1 Homo sapiens P07992
Anti Bait CoIP
24780295
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

Fanconi Anemia, Complementation Group Q

Fanconi Anemia Complementation Group Q

FANCQ

Xfe Progeroid Syndrome

Xpf-Ercc1 Progeroid Syndrome

XFEPS

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

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

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

Xeroderma Pigmentosum-Cockayne Syndrome Complex

Xp/Cs Complex

Spastic Ataxia

Spax

Ataxia, Spastic

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Progeroid Syndrome
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

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

Ibids

Pibids

Trichothiodystrophy Syndromes

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2

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

Fanconi Anemia, Complementation Group F

Fanconi Anemia Complementation Group F

FANCF

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

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

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

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
Felis catus ERCC4 VGNC VGNC:61933
Mus musculus ERCC4 MGD MGI:1354163
Bos taurus ERCC4 VGNC VGNC:28571
Canis familiaris ERCC4 VGNC VGNC:40444
Rattus norvegicus ERCC4 RGD RGD:1560340
Macaca mulatta ERCC4 VGNC VGNC:72424