ENSG00000020922


Homo sapiens

Features
Gene ID: ENSG00000020922
  
Biological name :MRE11
  
Synonyms : MRE11 / MRE11 homolog, double strand break repair nuclease / P49959
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q21
Gene start: 94415578
Gene end: 94493908
  
Corresponding Affymetrix probe sets: 205395_s_at (Human Genome U133 Plus 2.0 Array)   211334_at (Human Genome U133 Plus 2.0 Array)   242456_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440986
Ensembl peptide - ENSP00000439511
Ensembl peptide - ENSP00000442809
Ensembl peptide - ENSP00000325863
Ensembl peptide - ENSP00000326094
Ensembl peptide - ENSP00000376933
Ensembl peptide - ENSP00000385614
NCBI entrez gene - 4361     See in Manteia.
OMIM - 600814
RefSeq - XM_017017773
RefSeq - NM_005590
RefSeq - NM_005591
RefSeq - XM_005274008
RefSeq - XM_006718842
RefSeq - XM_011542837
RefSeq - XM_017017772
RefSeq Peptide - NP_001317276
RefSeq Peptide - NP_005581
RefSeq Peptide - NP_005582
swissprot - F5GXT0
swissprot - F5H256
swissprot - F5H742
swissprot - F8W7U8
swissprot - P49959
swissprot - A0A024R395
Ensembl - ENSG00000020922
  
Related genetic diseases (OMIM): 604391 - Ataxia-telangiectasia-like disorder 1, 604391
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mre11aENSDARG00000105014Danio rerio
 MRE11ENSGALG00000017211Gallus gallus
 Mre11aENSMUSG00000031928Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003701  DNA double-strand break repair protein Mre11
 IPR004843  Calcineurin-like phosphoesterase domain, ApaH type
 IPR007281  Mre11, DNA-binding
 IPR029052  Metallo-dependent phosphatase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000019 regulation of mitotic recombination TAS
 biological_processGO:0000724 double-strand break repair via homologous recombination TAS
 biological_processGO:0000729 DNA double-strand break processing TAS
 biological_processGO:0000731 DNA synthesis involved in DNA repair TAS
 biological_processGO:0000732 strand displacement TAS
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IEA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining IDA
 biological_processGO:0006310 DNA recombination TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007004 telomere maintenance via telomerase TAS
 biological_processGO:0007062 sister chromatid cohesion IMP
 biological_processGO:0007095 mitotic G2 DNA damage checkpoint IEA
 biological_processGO:0007129 synapsis IEA
 biological_processGO:0007131 reciprocal meiotic recombination TAS
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0031573 intra-S DNA damage checkpoint IBA
 biological_processGO:0031860 telomeric 3" overhang formation IMP
 biological_processGO:0031954 positive regulation of protein autophosphorylation IDA
 biological_processGO:0032206 positive regulation of telomere maintenance IMP
 biological_processGO:0032481 positive regulation of type I interferon production TAS
 biological_processGO:0032508 DNA duplex unwinding IMP
 biological_processGO:0032876 negative regulation of DNA endoreduplication IMP
 biological_processGO:0033674 positive regulation of kinase activity IDA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0051276 chromosome organization IEA
 biological_processGO:0051321 meiotic cell cycle IEA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 cellular_componentGO:0000781 chromosome, telomeric region IDA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016605 PML body ISS
 cellular_componentGO:0030870 Mre11 complex IEA
 cellular_componentGO:0035861 site of double-strand break IDA
 molecular_functionGO:0000014 single-stranded DNA endodeoxyribonuclease activity IDA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003690 double-stranded DNA binding TAS
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IMP
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004519 endonuclease activity IEA
 molecular_functionGO:0004520 endodeoxyribonuclease activity IDA
 molecular_functionGO:0004527 exonuclease activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0008408 3"-5" exonuclease activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030145 manganese ion binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Cytosolic sensors of pathogen-associated DNA
DNA Damage/Telomere Stress Induced Senescence
IRF3-mediated induction of type I IFN
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Meiotic recombination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000298 Mask-like facies 
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 HP:0000514 Slow saccades 
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 HP:0000571 Hypometric saccades 
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 HP:0000617 Abnormality of ocular smooth pursuit "An `abnormality of eye movement` (HP:0000496) characterized by impaired smooth-pursuit eye movements." [HPO:probinson]
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 HP:0000640 Gaze-evoked nystagmus "Nystagmus made apparent by looking to the right or to the left." [HPO:curators]
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 HP:0000641 Dysmetric saccades 
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 HP:0000657 Oculomotor apraxia 
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 HP:0000750 Impaired language development 
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 HP:0000815 Hypergonadotropic hypogonadism "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators]
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 HP:0001009 Telangiectasia "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001272 Cerebellar atrophy 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001310 Dysmetria 
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0001388 Joint laxity 
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 HP:0001761 Pes cavus 
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 HP:0002061 Lower limb spasticity 
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 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
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 HP:0002072 Chorea "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators]
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 HP:0002075 Dysdiadochokinesis "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators]
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 HP:0002080 Intention tremor "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators]
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 HP:0002198 Enlarged fourth ventricle 
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 HP:0002307 Drooling 
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 HP:0002310 Orofacial dyskinesia 
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 HP:0002359 Frequent falls 
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0003002 Breast cancer 
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 HP:0003438 Absent ankle reflexes 
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 HP:0003676 Progressive disorder 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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 HP:0003828 Variable expressivity 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0006801 Hyperactive deep tendon reflexes 
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 HP:0007141 Sensorimotor neuropathy 
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 HP:0007772 Impaired smooth pursuit in adult patients 
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 HP:0010544 Vertical nystagmus "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus." [HPO:curators]
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
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 HP:0040010 Small posterior fossa 
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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 HP:0100953 Enlarged interhemispheric fissure 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000011485 PPP5C / P53041 / protein phosphatase 5 catalytic subunit  / reaction
 ENSG00000127663 KDM4B / O94953 / lysine demethylase 4B  / complex / reaction
 ENSG00000080345 RIF1 / Q5UIP0 / replication timing regulatory factor 1  / complex / reaction
 ENSG00000136492 BRIP1 / Q9BX63 / BRCA1 interacting protein C-terminal helicase 1  / complex / reaction
 ENSG00000051341 POLQ / O75417 / DNA polymerase theta  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000138376 BARD1 / Q99728 / BRCA1 associated RING domain 1  / complex / reaction
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / complex / reaction
 ENSG00000166313 APBB1 / O00213 / amyloid beta precursor protein binding family B member 1  / complex / reaction
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / complex / reaction
 ENSG00000168496 FEN1 / P39748 / flap structure-specific endonuclease 1  / complex / reaction
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / complex / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / complex / reaction
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000005156 LIG3 / P49916 / DNA ligase 3  / complex / reaction
 ENSG00000123374 CDK2 / P24941 / cyclin dependent kinase 2  / complex / reaction
 ENSG00000073050 XRCC1 / P18887 / X-ray repair cross complementing 1  / complex / reaction
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / complex / reaction
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / complex / reaction
 ENSG00000175643 RMI2 / Q96E14 / RecQ mediated genome instability 2  / complex / reaction
 ENSG00000165392 WRN / Q14191 / Werner syndrome RecQ like helicase  / complex / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000178966 RMI1 / Q9H9A7 / RecQ mediated genome instability 1  / complex / reaction
 ENSG00000177302 TOP3A / Q13472 / DNA topoisomerase III alpha  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / complex / reaction
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / complex / reaction
 ENSG00000164053 ATRIP / Q8WXE1 / ATR interacting protein  / complex / reaction
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / complex / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / complex / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / reaction / complex
 ENSG00000138346 DNA2 / P51530 / DNA replication helicase/nuclease 2  / complex / reaction
 ENSG00000012048 BRCA1 / P38398 / BRCA1, DNA repair associated  / complex / reaction
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / complex / reaction
 ENSG00000175054 ATR / Q13535 / ATR serine/threonine kinase  / complex / reaction
 ENSG00000197299 BLM / P54132 / Bloom syndrome RecQ like helicase  / complex / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / complex / reaction
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / complex / reaction
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000163322 Q6UWZ7 / ABRAXAS1 / abraxas 1, BRCA1 A complex subunit  / complex / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / complex / reaction
 ENSG00000107643 MAPK8 / P45983 / mitogen-activated protein kinase 8  / complex / reaction
 ENSG00000158161 EYA3 / Q99504 / EYA transcriptional coactivator and phosphatase 3  / reaction
 ENSG00000143799 PARP1 / P09874 / poly(ADP-ribose) polymerase 1  / complex / reaction
 ENSG00000066135 KDM4A / O75164 / lysine demethylase 4A  / complex / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction
 ENSG00000087206 UIMC1 / Q96RL1 / ubiquitin interaction motif containing 1  / complex / reaction






 

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