TMEM126A and MRE11

		TMEM126A	MRE11
Description		transmembrane protein 126A	MRE11 double strand break repair nuclease
Image		No pdb structure
GO Annotations	Cellular Component	Mitochondrion Mitochondrial Inner Membrane Plasma Membrane Membrane	Chromosome, Telomeric Region Nucleus Nucleoplasm Replication Fork Chromosome Cytoplasm Cytosol PML Body Mre11 Complex Site Of Double-strand Break BRCA1-C Complex Chromosomal Region
	Molecular Function		Single-stranded DNA Endodeoxyribonuclease Activity DNA Binding DNA Helicase Activity Double-stranded DNA Binding Nuclease Activity Endonuclease Activity DNA Endonuclease Activity Exonuclease Activity Protein Binding 3'-5'-DNA Exonuclease Activity 3'-5' Exonuclease Activity Hydrolase Activity Manganese Ion Binding Identical Protein Binding Cadherin Binding
	Biological Process	Optic Nerve Development Protein Insertion Into Mitochondrial Inner Membrane From Matrix Mitochondrial Respiratory Chain Complex I Assembly Toll-like Receptor 4 Signaling Pathway Mitochondrial Protein Quality Control	Regulation Of Mitotic Recombination Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Repair Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining DNA Recombination DNA Damage Response Telomere Maintenance Via Telomerase Sister Chromatid Cohesion Mitotic G2 DNA Damage Checkpoint Signaling Homologous Chromosome Pairing At Meiosis Reciprocal Meiotic Recombination Cell Population Proliferation Mitotic Intra-S DNA Damage Checkpoint Signaling Telomeric 3' Overhang Formation Positive Regulation Of Telomere Maintenance Homologous Recombination Meiotic DNA Double-strand Break Formation Negative Regulation Of Apoptotic Process Mitotic G2/M Transition Checkpoint Chromosome Organization Meiotic Cell Cycle R-loop Processing Mitochondrial Double-strand Break Repair Via Homologous Recombination DNA Strand Resection Involved In Replication Fork Processing Positive Regulation Of Double-strand Break Repair Negative Regulation Of Double-strand Break Repair Via Nonhomologous End Joining
Pathways		Complex I biogenesis	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 Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2
Drugs
Diseases			Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2) DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
GWAS		Height ( 19570815)
Interacting Genes		2 interacting genes: FBXL17 FILNC1	27 interacting genes: ATM ATR CCNE1 CDK2 CDX2 CEBPA DCLRE1C DYNLL1 EP300 FANCD2 GRB2 H1-2 H2AX H4C1 LIG1 LOX MAPK8IP2 NBN NEK1 NKX3-1 PRKDC RAD50 RECQL5 SPOP SUMO1 SUMO2 XRCC6
Entrez ID		84233	4361
HPRD ID		13216	02889
Ensembl ID		ENSG00000171202	ENSG00000020922
Uniprot IDs		Q9H061	F8W7U8 P49959 Q05D78
PDB IDs			3T1I 7ZQY 8BAH 8K00
Enriched GO Terms of Interacting Partners?		Mitochondrial Double-strand Break Repair Via Homologous Recombination Meiotic DNA Double-strand Break Formation Negative Regulation Of Double-strand Break Repair Via Nonhomologous End Joining Mre11 Complex BRCA1-C Complex Single-stranded DNA Endodeoxyribonuclease Activity 3'-5'-DNA Exonuclease Activity Regulation Of Mitotic Recombination Chromosomal Region Telomeric 3' Overhang Formation R-loop Processing Activation Of NF-kappaB-inducing Kinase Activity Neural Crest Cell Differentiation	DNA Damage Response Telomere Organization DNA Metabolic Process Telomere Maintenance Chromosome Organization DNA Repair Double-strand Break Repair DNA Strand Resection Involved In Replication Fork Processing Chromosome, Telomeric Region Cellular Response To Stress Response To Ionizing Radiation Signal Transduction In Response To DNA Damage DNA Recombination DNA Damage Checkpoint Signaling Protein Localization To Chromosome Histone H2AXS139 Kinase Activity Organelle Organization Negative Regulation Of DNA Metabolic Process Nucleic Acid Metabolic Process Recombinational Repair Negative Regulation Of Cell Cycle Phase Transition Regulation Of Double-strand Break Repair Negative Regulation Of Cell Cycle Somatic Cell DNA Recombination Regulation Of DNA Metabolic Process V(D)J Recombination Negative Regulation Of Cell Cycle Process Chromosome Response To Gamma Radiation Regulation Of Cell Cycle Nucleoplasm Negative Regulation Of Nucleobase-containing Compound Metabolic Process Double-strand Break Repair Via Nonhomologous End Joining Regulation Of Cell Cycle Process Response To Radiation Regulation Of Cell Cycle Phase Transition Negative Regulation Of Mitotic Cell Cycle Protein Localization To Site Of Double-strand Break Damaged DNA Binding Mitotic DNA Damage Checkpoint Signaling Double-strand Break Repair Via Homologous Recombination Response To Stress Mitotic DNA Integrity Checkpoint Signaling Regulation Of DNA Recombination Regulation Of DNA Repair Nucleobase-containing Compound Metabolic Process Negative Regulation Of Telomere Capping Nonhomologous End Joining Complex Chromatin Remodeling Regulation Of Mitotic Cell Cycle
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