LARGE1 and DNAH5

		LARGE1	DNAH5
Description		LARGE xylosyl- and glucuronyltransferase 1	dynein axonemal heavy chain 5
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GO Annotations	Cellular Component	Golgi Membrane Golgi Apparatus Plasma Membrane Membrane Neuromuscular Junction Protein-containing Complex Intracellular Membrane-bounded Organelle	Extracellular Region Cytoplasm Cytoskeleton Axonemal Dynein Complex Microtubule Cilium Axoneme Dynein Complex Motile Cilium Outer Dynein Arm Cell Projection Glial Cell Projection 9+0 Motile Cilium 9+2 Motile Cilium
	Molecular Function	Catalytic Activity Protein Binding Acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity Glycosyltransferase Activity Hexosyltransferase Activity Manganese Ion Binding UDP-xylosyltransferase Activity Xylosyltransferase Activity Metal Ion Binding	Nucleotide Binding Microtubule Motor Activity ATP Binding Minus-end-directed Microtubule Motor Activity Dynein Intermediate Chain Binding Dynein Light Intermediate Chain Binding
	Biological Process	Blood Vessel Development Behavioral Fear Response Neuron Migration N-acetylglucosamine Metabolic Process Protein Glycosylation Protein O-linked Glycosylation Protein Targeting To Membrane Glycosphingolipid Biosynthetic Process Water Transport Intracellular Protein Transport Striated Muscle Contraction Plasma Membrane Organization Cytoskeleton Organization Chemical Synaptic Transmission Neuromuscular Synaptic Transmission Brain Development Heart Development Muscle Organ Development Neuromuscular Junction Development Sensory Perception Of Sound Memory Intracellular Protein Localization Determination Of Adult Lifespan Glycoprotein Metabolic Process Glycoprotein Biosynthetic Process Response To Light Stimulus Response To Mechanical Stimulus Gene Expression Retina Layer Formation Myotube Differentiation Dentate Gyrus Development Nerve Development Principal Sensory Nucleus Of Trigeminal Nerve Development Macrophage Differentiation Post-embryonic Hindlimb Morphogenesis Multicellular Organism Growth Protein O-linked Glycosylation Via Mannose Protein Modification Process Myelination Skeletal Muscle Tissue Regeneration Post-translational Protein Modification Muscle Cell Cellular Homeostasis Regulation Of Synaptic Plasticity Astrocyte Differentiation Cardiac Muscle Tissue Development Skeletal Muscle Fiber Development Synapse Organization Neuromuscular Process Controlling Posture Neuromuscular Process Synaptic Assembly At Neuromuscular Junction Localization Of Cell Striated Muscle Cell Development Cardiac Muscle Cell Development Transmembrane Transport Retina Development In Camera-type Eye Limb Development Long-term Synaptic Potentiation Bone Development Skeletal Muscle Organ Development Retina Vasculature Development In Camera-type Eye Connective Tissue Development Protein-containing Complex Assembly Basement Membrane Organization Potassium Ion Transmembrane Transport Protein Localization To Membrane Protein Localization To Plasma Membrane Walking Behavior Acetylcholine Receptor Signaling Pathway Skeletal Muscle Fiber Differentiation Reactive Gliosis	Cilium Movement Epithelial Cilium Movement Involved In Extracellular Fluid Movement Microtubule-based Movement Determination Of Left/right Symmetry Heart Development Lateral Ventricle Development Flagellated Sperm Motility Outer Dynein Arm Assembly Establishment Of Localization In Cell Cilium Assembly Cilium Movement Involved In Cell Motility
Pathways		Defective LARGE causes MDDGA6 and MDDGB6 Matriglycan biosynthesis on DAG1
Drugs
Diseases		Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy	Primary ciliary dyskinesia, including: Primary ciliary dyskinesia; Kartagener syndrome
GWAS		Age at first birth ( 27798627) Type 2 diabetes ( 29926116)	Antidepressant treatment resistance (number of drugs prescribed) ( 30700811) Coffee consumption ( 29367735) Cognitive function in longevity ( 33607172) Corneal astigmatism ( 23322567) Emphysema imaging phenotypes ( 26030696) Gut microbiota relative abundance (unclassified genus belonging to family Ruminococcaceae) ( 33208821) IgE grass sensitization ( 22036096) Post bronchodilator FEV1 in COPD ( 26634245) Post bronchodilator FEV1/FVC ratio in COPD ( 26634245) Subclinical atherosclerosis traits (other) ( 17903303) Thyroid volume in Hashimoto’s thyroiditis ( 32019955) Toxicity response to radiotherapy in prostate cancer (decreased urine stream) (time to event) ( 27515689) Visceral fat ( 22589738)
Interacting Genes			2 interacting genes: MTDH USP7
Entrez ID		9215	1767
HPRD ID		04665	04514
Ensembl ID		ENSG00000133424	ENSG00000039139
Uniprot IDs		A0A6Q8PFT0 A0A6Q8PHK1 O95461 V9GY39 X5DR28	Q8TE73
PDB IDs		7UI6 7UI7 7ZVJ 9E1T	8J07
Enriched GO Terms of Interacting Partners?		9+2 Motile Cilium Dynein Intermediate Chain Binding Outer Dynein Arm Assembly Axonemal Dynein Complex Assembly Glial Cell Projection Minus-end-directed Microtubule Motor Activity Outer Dynein Arm Dynein Light Intermediate Chain Binding 9+0 Motile Cilium Axonemal Dynein Complex Dynein Complex Lateral Ventricle Development Extracellular Transport Epithelial Cilium Movement Involved In Extracellular Fluid Movement Microtubule Motor Activity Determination Of Bilateral Symmetry Determination Of Left/right Symmetry Sperm Motility Flagellated Sperm Motility Axoneme Cilium-dependent Cell Motility Cilium Movement Involved In Cell Motility Cilium Movement Microtubule-based Transport Motile Cilium Heart Development Cilium Assembly Cilium Organization Microtubule Plasma Membrane Bounded Cell Projection Assembly Cell Projection Assembly Pattern Specification Process Microtubule-based Movement	Signal Transduction
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