MRE11 - MRE11 homolog, double strand break repair nuclease Gene

Homo sapiens

Also known as ATLD; HNGS1; MRE11A; MRE11B

Gene ID: 4361 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3'-5' exonuclease activity	IDA IDA: Inferred from direct assay	9651580	GOA
enables 3'-5'-DNA exonuclease activity	IDA IDA: Inferred from direct assay	26240375	GOA
contributes to DNA binding	IDA IDA: Inferred from direct assay	15790808	GOA
enables DNA endonuclease activity	IDA IDA: Inferred from direct assay	9705271	GOA
enables DNA endonuclease activity	IMP IMP: Inferred from mutant phenotype	23080121	GOA
contributes to DNA helicase activity	IMP IMP: Inferred from mutant phenotype	15790808	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22078559	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9590181	GOA
enables single-stranded DNA endodeoxyribonuclease activity	IDA IDA: Inferred from direct assay	9705271	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within DNA damage response	IDA IDA: Inferred from direct assay	17500065	GOA
involved in DNA damage response	IDA IDA: Inferred from direct assay	29670289	GOA
involved in DNA double-strand break processing	IMP IMP: Inferred from mutant phenotype	23080121	GOA
involved in DNA duplex unwinding	IMP IMP: Inferred from mutant phenotype	15790808	GOA
involved in DNA strand resection involved in replication fork processing	IDA IDA: Inferred from direct assay	27814491	GOA
involved in R-loop processing	IDA IDA: Inferred from direct assay	31537797	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	14657032	GOA
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	15741314	GOA
involved in double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	9651580	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	16374507	GOA
involved in negative regulation of double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	24316220	GOA
involved in positive regulation of kinase activity	IDA IDA: Inferred from direct assay	15790808	GOA
involved in positive regulation of protein autophosphorylation	IDA IDA: Inferred from direct assay	15790808	GOA
involved in positive regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	16374507	GOA
involved in sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	15917200	GOA
involved in telomeric 3' overhang formation	IMP IMP: Inferred from mutant phenotype	16374507	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BRCA1-C complex	IPI IPI: Inferred from physical interaction	16391231	GOA
part of Mre11 complex	IDA IDA: Inferred from direct assay	10888888	GOA
part of Mre11 complex	IPI IPI: Inferred from physical interaction	31147924	GOA
located in PML body	IDA IDA: Inferred from direct assay	10811102	GOA
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	15149599	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	10811102	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	25468996	GOA
located in replication fork	IDA IDA: Inferred from direct assay	29290612	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	26240375	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	15916964	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MRE11 Protein Structure

Metallophos

Mre11_DNA_bind

0
200
400
600
708 a.a.

Protein Preferred Names

Protein Names

double-strand break repair protein MRE11

AT-like disease

MRE11 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MRE11	P49959	RAD50	Homo sapiens	Q92878	TAP	24981860
Intra	MRE11	P49959	NBN	Homo sapiens	O60934	CoIP	12419185
Intra	MRE11	P49959	H2AX	Homo sapiens	P16104	IF	22157895
Intra	MRE11	P49959	RAD50	Homo sapiens	Q92878	IF	19197236
Intra	MRE11	P49959	NBN	Homo sapiens	O60934	Pull Down	22078559
Intra	MRE11	P49959	RAD50	Homo sapiens	Q92878	Anti Bait CoIP	17500065
Intra	MRE11	P49959	NBN	Homo sapiens	O60934	TAP	24981860
Intra	MRE11	P49959	NBN	Homo sapiens	O60934	Anti Bait CoIP	17500065
Intra	MRE11	P49959	HTT	Homo sapiens	P42858	Y2H	17500595

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-117693	Mirin	Inhibitor	98.12%	Unkown
HY-116770	PFM01	Inhibitor	99.68%	Unkown
HY-19959	(Z)-Mirin		99.30%	Unkown
HY-120951	PFM39	Inhibitor	98.02%	Unkown
HY-148078	PFM03	Inhibitor	98.04%	Unkown
HY-149972	Antitumor agent-96	Inducer	/	Unkown
HY-RS08643	MRE11 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.