RMI1

Description		RecQ mediated genome instability 1
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GO Annotations	Cellular Component	Nucleus Nucleoplasm Nuclear Body RecQ Family Helicase-topoisomerase III Complex
	Molecular Function	Nucleotide Binding Protein Binding
	Biological Process	Resolution Of Meiotic Recombination Intermediates Double-strand Break Repair Via Homologous Recombination Response To Dietary Excess Reduction Of Food Intake In Response To Dietary Excess DNA Replication Response To Glucose Multicellular Organism Growth Glucose Homeostasis Resolution Of DNA Recombination Intermediates
Pathways		HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates 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 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
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Diseases
GWAS		Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Childhood body mass index ( 33045005) Hip circumference adjusted for BMI ( 34021172) Menarche (age at onset) ( 25231870 27182965) Molar-incisor hypomineralization ( 23918034) Response to statin therapy ( 20339536) Risk-taking tendency (4-domain principal component model) ( 30643258) Smoking initiation ( 30617275) Smoking status (ever vs never smokers) ( 30643258) Triglycerides ( 30275531)
Interacting Genes		5 interacting genes: FANCM HSPA13 NR1H2 PFDN1 UBE3A
Entrez ID		80010
HPRD ID		09867
Ensembl ID		ENSG00000178966
Uniprot IDs		Q9H9A7
PDB IDs		3MXN 3NBH 3NBI 4CGY 4CHT 4DAY 7XUV
Enriched GO Terms of Interacting Partners?		Regulation Of Protein Metabolic Process Protein Folding Chaperone Positive Regulation Of Post-translational Protein Modification Sperm Entry Nuclear Receptor-mediated Signaling Pathway Positive Regulation Of Protein Ubiquitination Positive Regulation Of Golgi Lumen Acidification Positive Regulation Of Secretion Of Lysosomal Enzymes Positive Regulation Of High-density Lipoprotein Particle Assembly Positive Regulation Of Pancreatic Juice Secretion Hormone-mediated Signaling Pathway Regulation Of Golgi Lumen Acidification Regulation Of High-density Lipoprotein Particle Assembly Protein Folding Prefoldin Complex Positive Regulation Of Protein Localization To Lysosome Regulation Of Protein Ubiquitination Positive Regulation Of Cellular PH Reduction Regulation Of Post-translational Protein Modification Intracellular Receptor Signaling Pathway Apolipoprotein A-I Receptor Binding Negative Regulation Of Type II Interferon-mediated Signaling Pathway Negative Regulation Of Pinocytosis Double-strand Break Repair Via Synthesis-dependent Strand Annealing Four-way Junction Helicase Activity FANCM-MHF Complex Positive Regulation Of Protein Monoubiquitination Regulation Of Protein Monoubiquitination Prostate Gland Growth Negative Regulation Of Cholesterol Storage Progesterone Receptor Signaling Pathway Positive Regulation Of Triglyceride Biosynthetic Process Positive Regulation Of Digestive System Process Regulation Of Type II Interferon-mediated Signaling Pathway Regulation Of Response To Type II Interferon Negative Regulation Of Macrophage Derived Foam Cell Differentiation 3'-5' DNA Helicase Activity Fanconi Anaemia Nuclear Complex Negative Regulation Of Amyloid Fibril Formation Phosphatidylcholine Acyl-chain Remodeling ATP Hydrolysis Activity Positive Regulation Of Protein Modification Process Regulation Of Proteolysis Nuclear Retinoid X Receptor Binding Resolution Of Meiotic Recombination Intermediates Four-way Junction DNA Binding Regulation Of Amyloid Fibril Formation Regulation Of Triglyceride Biosynthetic Process Positive Regulation Of Protein Localization Androgen Receptor Signaling Pathway
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