Human Gene MRE11 (ENST00000540013.5) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F5GXT0)
RefSeq Summary (NM_005591): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.102131.1, SRR1660805.35065.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000540013.5
Gencode Gene: ENSG00000020922.12
Transcript (Including UTRs)
   Position: hg38 chr11:94,475,216-94,493,834 Size: 18,619 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr11:94,475,613-94,492,801 Size: 17,189 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:94,475,216-94,493,834)mRNA (may differ from genome)Protein (221 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsLynxMGI
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F5GXT0_HUMAN
DESCRIPTION: SubName: Full=Double-strand break repair protein MRE11A;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: MRE11
Diseases sorted by gene-association score: ataxia-telangiectasia-like disorder 1* (1579), nijmegen breakage syndrome-like disorder* (247), ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia* (86), ataxia-telangiectasia (32), nijmegen breakage syndrome (22), cerebellar degeneration (11), alpha-thalassemia/mental retardation syndrome (10), hereditary breast ovarian cancer* (8), werner syndrome (8), fanconi anemia, complementation group a (5), cornelia de lange syndrome (4), breast cancer (3)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.23 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 190.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.90149-0.288 Picture PostScript Text
3' UTR -91.40397-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003701 - DNA_repair_Mre11
IPR004843 - Metallo_PEstase_dom

Pfam Domains:
PF00149 - Calcineurin-like phosphoesterase

ModBase Predicted Comparative 3D Structure on F5GXT0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004519 endonuclease activity
GO:0008408 3'-5' exonuclease activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006302 double-strand break repair
GO:0090305 nucleic acid phosphodiester bond hydrolysis

Cellular Component:
GO:0030870 Mre11 complex


-  Descriptions from all associated GenBank mRNAs
  AK095388 - Homo sapiens cDNA FLJ38069 fis, clone CTONG2015434, highly similar to DOUBLE-STRAND BREAK REPAIR PROTEIN MRE11A.
BC063458 - Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae), mRNA (cDNA clone MGC:74523 IMAGE:5181691), complete cds.
U37359 - Homo sapiens MRE11 homologue hMre11 mRNA, complete cds.
AF022778 - Homo sapiens DNA recombination and repair protein (MRE11B) mRNA, complete cds.
AF073362 - Homo sapiens endo/exonuclease Mre11 (MRE11A) mRNA, complete cds.
AB528047 - Synthetic construct DNA, clone: pF1KB9980, Homo sapiens MRE11A gene for MRE11 meiotic recombination 11 homolog A, without stop codon, in Flexi system.
AK308318 - Homo sapiens cDNA, FLJ98266.
BC017823 - Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae), mRNA (cDNA clone IMAGE:4687479), partial cds.
BC005241 - Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae), mRNA (cDNA clone IMAGE:3997666), complete cds.
BT006730 - Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) mRNA, complete cds.
JF432288 - Synthetic construct Homo sapiens clone IMAGE:100073465 MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A) gene, encodes complete protein.
KJ904507 - Synthetic construct Homo sapiens clone ccsbBroadEn_13901 MRE11A gene, encodes complete protein.
KU178199 - Homo sapiens MRE11 meiotic recombination 11-like protein A isoform 1 (MRE11A) mRNA, partial cds.
KU178200 - Homo sapiens MRE11 meiotic recombination 11-like protein A isoform 2 (MRE11A) mRNA, complete cds, alternatively spliced.
JD135425 - Sequence 116449 from Patent EP1572962.
JD266642 - Sequence 247666 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03440 - Homologous recombination
hsa03450 - Non-homologous end-joining

BioCarta from NCI Cancer Genome Anatomy Project
h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
h_atmPathway - ATM Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: BC005241, F5GXT0, F5GXT0_HUMAN, MRE11A, uc058gpa.1
UCSC ID: uc058gpa.1
RefSeq Accession: NM_005591
Protein: F5GXT0

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.