XRCC5 and CACNA1C

		XRCC5	CACNA1C
Description		X-ray repair cross complementing 5	calcium voltage-gated channel subunit alpha1 C
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GO Annotations	Cellular Component	Chromosome, Telomeric Region Nuclear Telomere Cap Complex Extracellular Region Nucleus Nucleoplasm Chromosome Nucleolus Cytoplasm Cytosol Plasma Membrane DNA-dependent Protein Kinase-DNA Ligase 4 Complex Membrane Small-subunit Processome Protein-containing Complex Protein-DNA Complex Secretory Granule Lumen Ku70:Ku80 Complex DNA-dependent Protein Kinase Complex Nonhomologous End Joining Complex Site Of DNA Damage Ribonucleoprotein Complex	Nucleoplasm Cytoplasm Plasma Membrane Voltage-gated Calcium Channel Complex Cilium Postsynaptic Density Membrane Z Disc T-tubule Dendrite Monoatomic Ion Channel Complex Sarcolemma Cell Projection Perikaryon Synapse Postsynaptic Membrane Postsynaptic Density Membrane L-type Voltage-gated Calcium Channel Complex
	Molecular Function	Nucleotide Binding Transcription Cis-regulatory Region Binding DNA Binding DNA Helicase Activity Damaged DNA Binding Double-stranded DNA Binding Double-stranded Telomeric DNA Binding RNA Binding Helicase Activity Protein Binding ATP Binding Enzyme Activator Activity ATP-dependent Activity, Acting On DNA Hydrolase Activity ATP Hydrolysis Activity Ubiquitin Protein Ligase Binding U3 SnoRNA Binding Telomeric DNA Binding Protein-containing Complex Binding DNA End Binding 5'-deoxyribose-5-phosphate Lyase Activity	Monoatomic Ion Channel Activity Voltage-gated Calcium Channel Activity Calcium Channel Activity Protein Binding Calmodulin Binding High Voltage-gated Calcium Channel Activity Metal Ion Binding Alpha-actinin Binding Voltage-gated Calcium Channel Activity Involved In Cardiac Muscle Cell Action Potential Voltage-gated Calcium Channel Activity Involved In AV Node Cell Action Potential
	Biological Process	Telomere Maintenance Recombinational Repair Activation Of Innate Immune Response Immune System Process DNA Repair Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining DNA Recombination DNA Damage Response Telomere Maintenance Via Telomerase Negative Regulation Of Macromolecule Biosynthetic Process Neurogenesis Regulation Of Telomere Maintenance Small-subunit Processome Assembly Ribosome Biogenesis Innate Immune Response Positive Regulation Of Protein Kinase Activity Negative Regulation Of DNA-templated Transcription Regulation Of Smooth Muscle Cell Proliferation Positive Regulation Of Neurogenesis Hematopoietic Stem Cell Differentiation Protein Localization To Chromosome, Telomeric Region Hematopoietic Stem Cell Proliferation Cellular Response To Gamma Radiation Negative Regulation Of T-circle Formation Cellular Response To Leukemia Inhibitory Factor	Immune System Development Monoatomic Ion Transport Calcium Ion Transport Muscle Contraction Positive Regulation Of Cytosolic Calcium Ion Concentration Heart Development Regulation Of Cardiac Muscle Contraction By Regulation Of The Release Of Sequestered Calcium Ion Monoatomic Ion Transmembrane Transport Embryonic Forelimb Morphogenesis Camera-type Eye Development Positive Regulation Of Adenylate Cyclase Activity Positive Regulation Of Muscle Contraction Transmembrane Transport Calcium Ion Transport Into Cytosol Cardiac Conduction Calcium Ion Transmembrane Transport Via High Voltage-gated Calcium Channel Calcium Ion Transmembrane Transport Cardiac Muscle Cell Action Potential Involved In Contraction Membrane Depolarization During Cardiac Muscle Cell Action Potential Membrane Depolarization During AV Node Cell Action Potential Cell Communication By Electrical Coupling Involved In Cardiac Conduction Regulation Of Heart Rate By Cardiac Conduction Calcium Ion Import Across Plasma Membrane Regulation Of Ventricular Cardiac Muscle Cell Action Potential Membrane Depolarization During Atrial Cardiac Muscle Cell Action Potential
Pathways		2-LTR circle formation Cytosolic sensors of pathogen-associated DNA IRF3-mediated induction of type I IFN Nonhomologous End-Joining (NHEJ) Neutrophil degranulation	Adrenaline,noradrenaline inhibits insulin secretion NCAM1 interactions Regulation of insulin secretion Regulation of insulin secretion Phase 0 - rapid depolarisation Phase 2 - plateau phase
Drugs			Ergocalciferol Enflurane Ranolazine Phenytoin Isradipine Topiramate Ibutilide Diltiazem Amlodipine Nimodipine Nisoldipine Spironolactone Cinnarizine Nicardipine Nicardipine Magnesium sulfate Verapamil Verapamil Levomenthol Ethanol Felodipine Nitrendipine Nitrendipine Miconazole Nifedipine Amiodarone Calcium Mibefradil Dronedarone Clevidipine Nilvadipine Nilvadipine Drotaverine Trimebutine Barnidipine Aranidipine Benidipine Cilnidipine Efonidipine Efonidipine Efonidipine Lacidipine Levamlodipine Manidipine Butamben Isavuconazole Propiverine Bioallethrin Bioallethrin Fish oil
Diseases			Brugada syndrome (BRS) Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
GWAS			Acoustic startle blink response ( 25387708) Adult body size ( 32376654) Adventurousness ( 30643258) Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Aortic root size ( 28394258) Appendicular lean mass ( 33097823) Atypical femoral fracture in phosphonate treatment ( 31006051) Autism spectrum disorder or schizophrenia ( 28540026) Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) ( 23453885) Bipolar disorder ( 18711365 34002096 33263727 31043756 28072414 20351715) Bipolar disorder or major depressive disorder ( 20351715) Bipolar I disorder ( 31043756) Broad depression or bipolar disorder ( 30626913) Broad depression or schizophrenia ( 30626913) Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) ( 31374203) Diastolic blood pressure ( 30224653) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Exploratory eye movement dysfunction in schizophrenia (cognitive search score) ( 26242244) Fractional exhaled nitric oxide (childhood) ( 24315451) General risk tolerance (MTAG) ( 30643258) Heel bone mineral density ( 28869591 30598549) Hematocrit ( 32888494 27863252) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Lumbar spine bone mineral density (integral) ( 27476799) Lumbar spine bone mineral density (trabecular) ( 27476799) Major depressive disorder and major depressive episode treated with electroconvulsive therapy ( 33483693) Medication use (agents acting on the renin-angiotensin system) ( 31015401) Perceived intensity of aspartame ( 31005972) Platelet count ( 32888494) Platelet distribution width ( 32888494) Plateletcrit ( 32888494) Post bronchodilator FEV1/FVC ratio ( 26634245) Psychosis proneness (hypomanic personality scale and revised physical anhedonia scale) ( 28525603) Psychosis proneness (hypomanic personality scale) ( 28525603) Red blood cell count ( 27863252 32888494 29403010) Red blood cell traits ( 23222517) Response to olanzapine in schizophrenia ( 29503163) Resting heart rate ( 27798624 29769521) Schizophrenia ( 23974872 25056061 28991256 29483656 21926974 22688191 30285260) Schizophrenia or bipolar disorder ( 24280982) Sensorimotor dexterity ( 31596458) Short-term memory (digit-span task) ( 30741946) Sleep quality ( 23728906) Warfarin maintenance dose ( 18535201)
Interacting Genes		59 interacting genes: APEX1 AR ATM ATR BAZ1A BRCA1 CD40 CDC16 CEBPA CHAF1A COIL CSNK2A1 DEAF1 DUX4 ELF3 ERCC6 GZMA GZMB HSF1 HSPB1 LIG3 LINC01554 MSX2 NAA15 NBN NCOA6 NDRG1 ORC2 PARP1 PCNA PDX1 PGR POLA1 POLD1 POLE POLR2A PRKDC PTEN RBM14 RNF126 RUNX2 SGO1 SRPK2 SUMO2 SUPT4H1 SUPT5H TCF4 TERF2IP TERT TOP1 TOP2B TYK2 UBC UBE2I UCHL3 VAV1 WRN XRCC6 ZBTB7A	25 interacting genes: ACTN2 ANKRD35 BSG C18orf32 CABP1 CACNB3 COPS5 DNAJA3 EFEMP1 FHL2 GNB1 HDAC4 IFT88 NUP133 PCBD1 PICK1 PPM1A PRKACA RIC3 RIMS1 RYR2 SRI SRRT TNIP2 VCP
Entrez ID		7520	775
HPRD ID		08935	00246
Ensembl ID		ENSG00000079246	ENSG00000151067
Uniprot IDs		P13010	A0A0A0MR67 A0A0A0MSA1 A0A804HI37 A0A804HIJ8 A0A804HJB6 A0A804HKC4 E9PDI6 F5H522 Q13936 Q59GU3 Q5V9X9
PDB IDs		1JEQ 1JEY 1Q2Z 1RW2 3RZ9 5Y3R 6ERF 6ERG 6ERH 6ZH6 6ZHA 6ZHE 7AXZ 7K0Y 7K17 7K1J 7K1K 7K1N 7LSY 7LT3 7NFC 7NFE 7SGL 7SU3 7SUD 7Z6O 7Z87 7Z88 7ZT6 7ZVT 7ZWA 7ZYG 8AG4 8AG5 8ASC 8BH3 8BHV 8BHY 8BOT 8EZA 8EZB 8RD4	1T0J 2BE6 2F3Y 2F3Z 2LQC 3G43 3OXQ 5V2P 5V2Q 6C0A 6DAD 6DAE 6DAF 6U39 6U3A 6U3B 6U3D 7L8V 8EOG 8EOI 8FD7 8FHS 8HLP 8HMA 8HMB 8UKO 8UKP 8WE6 8WE7 8WE8 8WE9 8WEA
Enriched GO Terms of Interacting Partners?		DNA Metabolic Process Nucleic Acid Metabolic Process Nucleus Nucleoplasm Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process DNA Repair DNA Damage Response Macromolecule Metabolic Process Nucleobase-containing Compound Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Regulation Of Primary Metabolic Process Response To Stress Regulation Of Macromolecule Metabolic Process Double-strand Break Repair Positive Regulation Of DNA Metabolic Process Chromosome, Telomeric Region Regulation Of DNA Metabolic Process Telomere Maintenance Positive Regulation Of Metabolic Process Regulation Of RNA Biosynthetic Process DNA Binding Response To Gamma Radiation Regulation Of RNA Metabolic Process Cellular Response To Stress Double-strand Break Repair Via Nonhomologous End Joining Positive Regulation Of Macromolecule Biosynthetic Process Telomere Organization Regulation Of DNA-templated Transcription Regulation Of Metabolic Process Regulation Of DNA Repair Positive Regulation Of RNA Biosynthetic Process Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of Biosynthetic Process Regulation Of Macromolecule Biosynthetic Process DNA Replication Regulation Of Double-strand Break Repair Chromatin Binding Nucleobase-containing Compound Biosynthetic Process Positive Regulation Of RNA Metabolic Process Positive Regulation Of Transcription By RNA Polymerase II Chromosome Organization Positive Regulation Of DNA-templated Transcription DNA Recombination Negative Regulation Of DNA Metabolic Process DNA Strand Elongation Regulation Of Gene Expression Recombinational Repair Response To Ionizing Radiation	Synapse Intracellular Protein Localization Regulation Of Protein Localization Cellular Localization Regulation Of Release Of Sequestered Calcium Ion Into Cytosol By Sarcoplasmic Reticulum Channel Activator Activity Z Disc Regulation Of Monoatomic Cation Transmembrane Transport Regulation Of Protein Transport Calcium Channel Regulator Activity Regulation Of Monoatomic Ion Transmembrane Transport Regulation Of Transport Protein Localization To Membrane Cellular Response To Epinephrine Stimulus Regulation Of Establishment Of Protein Localization Calcium Ion Transport Into Cytosol Intracellular Protein Transport Regulation Of ATP Metabolic Process Response To Epinephrine Positive Regulation Of Transport Regulation Of Cardiac Muscle Contraction Regulation Of Release Of Sequestered Calcium Ion Into Cytosol Cell Communication By Electrical Coupling Involved In Cardiac Conduction Regulation Of Purine Nucleotide Metabolic Process Response To Heat Regulation Of Biological Quality Protein Domain Specific Binding Positive Regulation Of Protein Export From Nucleus Negative Regulation Of Glycolytic Process Regulation Of Monoatomic Ion Transport Establishment Of Localization In Cell Cell Communication By Electrical Coupling Regulation Of Striated Muscle Contraction Cell Communication Involved In Cardiac Conduction Negative Regulation Of Canonical NF-kappaB Signal Transduction Regulation Of Membrane Potential Regulation Of Heart Rate Regulation Of Post-translational Protein Modification Positive Regulation Of Cation Channel Activity Regulation Of Cardiac Muscle Contraction By Regulation Of The Release Of Sequestered Calcium Ion Cardiac Muscle Hypertrophy Negative Regulation Of ATP Metabolic Process Protein Kinase A Regulatory Subunit Binding Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of Cation Transmembrane Transport Regulation Of Intracellular Transport Regulation Of Protein Secretion Regulation Of Cardiac Conduction Calcium Channel Complex Muscle Hypertrophy
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