DYNC1H1 and MRE11

		DYNC1H1	MRE11
Description		dynein cytoplasmic 1 heavy chain 1	MRE11 double strand break repair nuclease
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GO Annotations	Cellular Component	Extracellular Region Cytoplasm Centrosome Cytosol Cytoskeleton Cytoplasmic Dynein Complex Microtubule Cytoplasmic Microtubule Cell Cortex Membrane Filopodium Dynein Complex Azurophil Granule Lumen Extracellular Exosome Axon Cytoplasm	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	Nucleotide Binding RNA Binding Protein Binding ATP Binding Minus-end-directed Microtubule Motor Activity Identical Protein Binding Dynein Intermediate Chain Binding Dynein Light Intermediate Chain Binding	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	Microtubule-based Movement Mitotic Spindle Organization Nuclear Migration Retrograde Axonal Transport Cytoplasmic Microtubule Organization Positive Regulation Of Intracellular Transport P-body Assembly Stress Granule Assembly Establishment Of Spindle Localization Cell Division Regulation Of Mitotic Spindle Organization Regulation Of Metaphase Plate Congression Positive Regulation Of Cold-induced Thermogenesis Positive Regulation Of Spindle Assembly	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		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion Regulation of PLK1 Activity at G2/M Transition HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane RHO GTPases Activate Formins Neutrophil degranulation COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase AURKA Activation by TPX2 HCMV Early Events Aggrephagy Aggrephagy EML4 and NUDC in mitotic spindle formation	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		Distal hereditary motor neuropathies (dHMN)	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		Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) ( 30940143)
Interacting Genes		25 interacting genes: BRCA1 BTG3 CEBPA COX20 DISC1 DSCAM DSCR9 DUX4 DYNLL1 EGFR FILNC1 ITSN1 KATNA1 KATNB1 LINC01554 MTNR1B NDEL1 PRKCD RHBDD2 SMAD2 SUMO2 TENT5A TNIK YWHAG YWHAQ	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		1778	4361
HPRD ID		02524	02889
Ensembl ID		ENSG00000197102	ENSG00000020922
Uniprot IDs		Q14204	F8W7U8 P49959 Q05D78
PDB IDs		5NUG 5OWO 6F1T 6F1U 6F1V 6F1Y 6F38 6F3A 7Z8F 7Z8G 7Z8H 7Z8I 7Z8J 7Z8K 7Z8L 8DYU 8DYV 8FCY 8FD6 8FDT 8FDU 8PQV 8PQW 8PQY 8PQZ 8PR0 8PR1 8PR2 8PR3 8PTK	3T1I 7ZQY 8BAH 8K00
Enriched GO Terms of Interacting Partners?		Intracellular Signal Transduction DNA Strand Resection Involved In Replication Fork Processing BRCA1-C Complex Cerebral Cortex Cell Migration Katanin Complex Radial Glia-guided Pyramidal Neuron Migration Telencephalon Cell Migration Signal Transduction Forebrain Cell Migration Microtubule Severing	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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