1. Gene
  2. XRCC3 - X-ray repair cross complementing 3 Gene

XRCC3 - X-ray repair cross complementing 3 Gene

中文名称:X 光修复交叉补 3

种属: Homo sapiens

同用名: CMM6

基因 ID: 7517 | 基因类型: protein coding

关于 XRCC3

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:103,697,617-103,715,451 (from NCBI)

This gene has 18 transcripts (splice variants), 191 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.7), skin (RPKM 5.6) and 25 other tissues.

功能概要

该基因编码 RecA/RAD51 相关蛋白家族的一个成员,参与同源重组以维持染色体稳定性和修复 DNA 损伤。该基因在功能上补充了中国仓鼠 irs1SF,后者是一种修复缺陷型突变体,对许多不同的 DNA 损伤剂表现出超敏反应,并且染色体不稳定。该基因中罕见的微卫星多态性与不同放射敏感性患者的癌症相关。已经鉴定出编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with Cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

XRCC3 基因产物(6)

mRNA Protein Name
NM_001100118.2 NP_001093588.1 DNA repair protein XRCC3
NM_001100119.2 NP_001093589.1 DNA repair protein XRCC3
NM_001371229.1 NP_001358158.1 DNA repair protein XRCC3
NM_001371231.1 NP_001358160.1 DNA repair protein XRCC3
NM_001371232.1 NP_001358161.1 DNA repair protein XRCC3
NM_005432.4 NP_005423.1 DNA repair protein XRCC3
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 crossover junction DNA endonuclease activity IMP
IMP: 通过突变表型推断
14716019 GOA
contributes to four-way junction DNA binding IDA
IDA: 通过直接分析推断
20207730 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9469824 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
10422536 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
23149936 GOA
involved in interstrand cross-link repair IMP
IMP: 通过突变表型推断
26323318 GOA
involved in positive regulation of mitotic cell cycle spindle assembly checkpoint IMP
IMP: 通过突变表型推断
23108668 GOA
involved in regulation of centrosome duplication IMP
IMP: 通过突变表型推断
23108668 GOA
involved in resolution of mitotic recombination intermediates IMP
IMP: 通过突变表型推断
23108668 GOA
involved in t-circle formation IMP
IMP: 通过突变表型推断
21903669 GOA
involved in telomere maintenance via recombination IMP
IMP: 通过突变表型推断
15507207 GOA
involved in telomere maintenance via telomere trimming IGI
IGI: 通过遗传相互作用推断
27918544 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Rad51C-XRCC3 complex IDA
IDA: 通过直接分析推断
11751635 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
16215984 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
20413593 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16215984 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
16215984 GOA
located in replication fork IDA
IDA: 通过直接分析推断
20207730 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

XRCC3 蛋白结构

Rad51

Rad51: Rad51 (64 - 338)

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

DNA repair protein XRCC3

X-ray repair complementing defective repair in Chinese hamster cells 3

XRCC3 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 XRCC3 O43542 PALB2 Homo sapiens Q86YC2
Anti Bait CoIP
24141787
Intra XRCC3 O43542 PALB2 Homo sapiens Q86YC2
Pull Down
24141787
Intra XRCC3 O43542 RAD51C Homo sapiens O43502
Anti Bait CoIP
24141787
Intra XRCC3 O43542 RAD51C Homo sapiens O43502
Y2H
9469824
Intra XRCC3 O43542 RAD51C Homo sapiens O43502
Anti Tag CoIP
11842113
Intra XRCC3 O43542 RAD51C Homo sapiens O43502
Pull Down
11751635
Intra XRCC3 O43542 RAD51C Homo sapiens O43502
Anti Tag CoIP
26496610
Intra XRCC3 O43542 RAD51 Homo sapiens Q06609
Anti Tag CoIP
11842113
Intra XRCC3 O43542 RAD51 Homo sapiens Q06609
Y2H
9660962
Intra XRCC3 O43542 RAD51 Homo sapiens Q06609
Anti Tag CoIP
9660962
Intra XRCC3 O43542 SWSAP1 Homo sapiens Q6NVH7
Anti Tag CoIP
21965664
Intra XRCC3 O43542 SWSAP1 Homo sapiens Q6NVH7
Pull Down
21965664
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
Melanoma, Cutaneous Malignant 6

Melanoma, Cutaneous Malignant, Susceptibility To, 6

CMM6

Melanoma, Cutaneous Malignant, 6

Cutaneous Malignant Melanoma 6

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 6

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

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

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D

Xpdc

Xeroderma Pigmentosum Iv

XPD

Xeroderma Pigmentosum Group D

Xeroderma Pigmentosum Viii

Xp Group D

Xp Group H

Xp4

Xp8

Xph

Xp, Group D

Xp4 Xeroderma Pigmentosum Viii, Formerly

Xp8, Formerly

Xp, Group H, Formerly

Xph, Formerly

Xeroderma Pigmentosum Complementation Group D

XP-D

Xp-D/Cs

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Cervix Melanoma
Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin

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

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

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

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

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

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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

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

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 XRCC3 VGNC VGNC:99342
Canis familiaris XRCC3 VGNC VGNC:48467
Felis catus XRCC3 VGNC VGNC:67118
Bos taurus XRCC3 VGNC VGNC:37004
Rattus norvegicus XRCC3 RGD RGD:1306849
Mus musculus XRCC3 MGD MGI:1921585