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  2. MRE11 - MRE11 homolog, double strand break repair nuclease Gene

MRE11 - MRE11 homolog, double strand break repair nuclease Gene

中文名称:MRE11 同系物,双链断裂修复核酸酶

种属: Homo sapiens

同用名: ATLD; HNGS1; MRE11A; MRE11B

基因 ID: 4361 | 基因类型: protein coding

关于 MRE11

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:94,415,570-94,512,412 (from NCBI)

This gene has 10 transcripts (splice variants), 202 orthologues and is associated with 6 phenotypes. Ubiquitous expression in skin (RPKM 5.3), bone marrow (RPKM 4.6) and 25 other tissues.

功能概要

该基因编码一种参与同源重组、端粒长度维持和 DNA 双链断裂修复的核蛋白。该蛋白质本身具有 3' 至 5' 核酸外切酶活性和核酸内切酶活性。该蛋白质与 RAD50 同源物形成复合物;该复合物是 DNA 末端非同源连接所必需的,并且具有增强的单链 DNA 核酸内切酶和 3' 至 5' 核酸外切酶活性。结合 DNA 连接酶,该蛋白质利用 DNA 片段末端附近的短同源性促进体外非互补末端的连接。该基因在 3 号染色体上有一个假基因。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and Endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA Endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA Ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

MRE11 基因产物(3)

mRNA Protein Name
NM_001330347.2 NP_001317276.1 double-strand break repair protein MRE11 isoform 3
NM_005590.4 NP_005581.2 double-strand break repair protein MRE11 isoform 2
NM_005591.4 NP_005582.1 double-strand break repair protein MRE11 isoform 1
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 3'-5' exonuclease activity IDA
IDA: 通过直接分析推断
9651580 GOA
enables 3'-5'-DNA exonuclease activity IDA
IDA: 通过直接分析推断
26240375 GOA
contributes to DNA binding IDA
IDA: 通过直接分析推断
15790808 GOA
enables DNA endonuclease activity IDA
IDA: 通过直接分析推断
9705271 GOA
enables DNA endonuclease activity IMP
IMP: 通过突变表型推断
23080121 GOA
contributes to DNA helicase activity IMP
IMP: 通过突变表型推断
15790808 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22078559 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9590181 GOA
enables single-stranded DNA endodeoxyribonuclease activity IDA
IDA: 通过直接分析推断
9705271 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within DNA damage response IDA
IDA: 通过直接分析推断
17500065 GOA
involved in DNA damage response IDA
IDA: 通过直接分析推断
29670289 GOA
involved in DNA double-strand break processing IMP
IMP: 通过突变表型推断
23080121 GOA
involved in DNA duplex unwinding IMP
IMP: 通过突变表型推断
15790808 GOA
involved in DNA strand resection involved in replication fork processing IDA
IDA: 通过直接分析推断
27814491 GOA
involved in R-loop processing IDA
IDA: 通过直接分析推断
31537797 GOA
involved in double-strand break repair IDA
IDA: 通过直接分析推断
14657032 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
15741314 GOA
involved in double-strand break repair via nonhomologous end joining IDA
IDA: 通过直接分析推断
9651580 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
16374507 GOA
involved in negative regulation of double-strand break repair via nonhomologous end joining IDA
IDA: 通过直接分析推断
24316220 GOA
involved in positive regulation of kinase activity IDA
IDA: 通过直接分析推断
15790808 GOA
involved in positive regulation of protein autophosphorylation IDA
IDA: 通过直接分析推断
15790808 GOA
involved in positive regulation of telomere maintenance IMP
IMP: 通过突变表型推断
16374507 GOA
involved in sister chromatid cohesion IMP
IMP: 通过突变表型推断
15917200 GOA
involved in telomeric 3' overhang formation IMP
IMP: 通过突变表型推断
16374507 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BRCA1-C complex IPI
IPI: 通过物理相互作用推断
16391231 GOA
part of Mre11 complex IDA
IDA: 通过直接分析推断
10888888 GOA
part of Mre11 complex IPI
IPI: 通过物理相互作用推断
31147924 GOA
located in PML body IDA
IDA: 通过直接分析推断
10811102 GOA
colocalizes with chromosome, telomeric region IDA
IDA: 通过直接分析推断
15149599 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
10811102 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
25468996 GOA
located in replication fork IDA
IDA: 通过直接分析推断
29290612 GOA
is active in site of double-strand break IDA
IDA: 通过直接分析推断
26240375 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
15916964 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

MRE11 蛋白结构

Metallophos

Metallophos: Calcineurin-like phosphoesterase (13 - 249)

Mre11_DNA_bind

Mre11_DNA_bind: Mre11 DNA-binding presumed domain (294 - 461)

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

double-strand break repair protein MRE11

AT-like disease

关联疾病

疾病名称 别名
Ataxia-Telangiectasia-Like Disorder 1

ATLD1

Atld

Ataxia-Telangiectasia-Like Disorder

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

Nijmegen Breakage Syndrome-Like Disorder

NBSLD

Nbs-Like Disorder

Rad50 Deficiency

Microcephaly And Spontaneous Chromosome Instability Without Immunodeficiency

Microcephaly And Chromosomal Instability Without Immunodeficiency

Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer 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

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

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

Cerebellar Degeneration
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

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

Fallopian Tube Carcinoma

Fallopian Tube Cancer

Cancer Of The Fallopian Tube

Carcinoma Of Fallopian Tube

Neoplasm Of Fallopian Tube

Fallopian Tube Neoplasms

Fallopian Tube Ca

Fallopian Tube Neoplasm

Malignant Neoplasm Of Uterine Tube

Malignant Tumor Of Fallopian Tube

Malignant Tumour Of Fallopian Tube

Tumor Of The Fallopian Tube

Tumor, Fallopian Tube, Malignant

Malignant Tumor Of Fallopian Tubes

Cancer Of Fallopian Tubes

Malignant Tubal Tumor

Tubal Cancer

Malignant Neoplasm Of Fallopian Tube

Primary Malignant Neoplasm Of Fallopian Tube

Cancer Of The Oviduct

Ovarian Endometrioid Adenofibroma
Autosomal Recessive Cerebellar Ataxia

Arca

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

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

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
Rattus norvegicus MRE11 RGD RGD:69263
Bos taurus MRE11 VGNC VGNC:31600
Felis catus MRE11 VGNC VGNC:68317
Canis familiaris MRE11 VGNC VGNC:43361
Mus musculus MRE11 MGD MGI:1100512
Macaca mulatta MRE11 VGNC VGNC:74926
Others MRE11 NCBI