MRE11 - MRE11 homolog, double strand break repair nuclease Gene

Also Known as ATLD; HNGS1; MRE11A; MRE11B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4361

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

MRE11 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80229	MRE11 Antibody (YA283)	WB, IHC-P	Human, Mouse, Rat
HY-P84362	MRE11 Antibody (YA4059)	WB, IHC-P, FC, ELISA	Human, Mouse, Monkey, Rat
HY-P84362A	MRE11 Antibody (YA4059)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Monkey, Rat

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

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19959	Mirin		99.63%	Unkown
HY-117693	(E/Z)-Mirin	Inhibitor	99.22%	Unkown
HY-116770	PFM01	Inhibitor	99.91%	Unkown
HY-120951	PFM39	Inhibitor	98.18%	Unkown
HY-148078	PFM03	Inhibitor	99.86%	Unkown
HY-170844	MU147	Inhibitor	99.35%	Unkown
HY-170845	MU1409	Inhibitor	98.52%	Unkown
HY-RS08643	MRE11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-148302	LT-626	Inhibitor	/	Unkown
HY-149972	Antitumor agent-96	Inducer	/	Unkown
HY-RS24170	Mre11 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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