RAPSN and KLHL8

Number of citations: 82 (PubMedID 19158078)
Data Source: BioGRID (enzymatic study)

		RAPSN	KLHL8
Name		receptor associated protein of the synapse	kelch like family member 8
Structure		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Cytoplasm Golgi Apparatus Centrosome Cytosol Cytoskeleton Plasma Membrane Membrane Neuromuscular Junction Synapse Postsynaptic Membrane Postsynaptic Specialization Membrane	Nucleoplasm Cytoplasm Cul3-RING Ubiquitin Ligase Complex
	Molecular Function	Protein Binding Zinc Ion Binding Protein-macromolecule Adaptor Activity Acetylcholine Receptor Binding Ionotropic Glutamate Receptor Binding Protein-membrane Adaptor Activity Metal Ion Binding Structural Constituent Of Postsynaptic Specialization	Protein Binding Ubiquitin-like Ligase-substrate Adaptor Activity
	Biological Process	Chemical Synaptic Transmission Synaptic Transmission, Cholinergic Neuromuscular Junction Development Skeletal Muscle Acetylcholine-gated Channel Clustering Motor Neuron Apoptotic Process Maintenance Of Postsynaptic Specialization Structure Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane Positive Regulation Of Neuromuscular Synaptic Transmission Regulation Of Postsynaptic Membrane Organization Establishment Of Protein Localization To Postsynaptic Membrane Positive Regulation Of Motor Neuron Apoptotic Process	Ubiquitin-dependent Protein Catabolic Process Protein Ubiquitination Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process
Diseases		Congenital myasthenic syndrome Fetal akinesia deformation sequence (FADS); Pena-Shokeir syndrome, type 1	None
GWAS		Alcohol consumption (drinks per week) ( 30679032 30643258 ) Alcohol use disorder (total score) ( 30336701 ) Alzheimer's disease or fasting glucose levels (pleiotropy) ( 30805717 ) Body fat distribution (arm fat ratio) ( 30664634 ) Body fat distribution (leg fat ratio) ( 30664634 ) Body fat distribution (trunk fat ratio) ( 30664634 ) Brain morphology (MOSTest) ( 32665545 ) Central corneal thickness ( 32528159 ) Diastolic blood pressure ( 27618452 28739976 ) Eosinophil count ( 32888494 ) Eosinophil percentage of white cells ( 32888494 ) Fruit consumption ( 32066663 ) General factor of neuroticism ( 30867560 ) Glaucoma (primary open-angle) ( 33627673 ) Global electrical heterogeneity phenotypes ( 29622589 ) Height ( 28552196 ) Intraocular pressure ( 29235454 29617998 25173106 ) Lacunar stroke ( 33773637 ) Loneliness ( 29970889 ) Loneliness (MTAG) ( 29970889 ) Mean corpuscular hemoglobin ( 32888494 27863252 ) Mean corpuscular volume ( 32888494 ) Mood instability ( 31168069 ) Neuroticism ( 29255261 ) Red cell distribution width ( 32888494 ) Refractive error ( 32231278 ) Sleep duration (short sleep) ( 30846698 ) Systolic blood pressure ( 27618452 28739976 ) Type 2 diabetes or prostate cancer (pleiotropy) ( 33290408 ) Waist circumference adjusted for body mass index ( 34021172 ) Waist-hip index ( 34021172 ) Waist-to-hip ratio adjusted for BMI ( 34021172 ) White blood cell count ( 29403010 )	Alanine aminotransferase levels ( 33547301 33339817 ) Alanine transaminase levels ( 29403010 ) Aspartate aminotransferase levels ( 29403010 33547301 33339817 ) Bulimia nervosa ( 23568457 ) Eyebrow thickness ( 26926045 ) HDL cholesterol levels ( 28334899 ) Rosacea symptom severity ( 29771307 ) Total cholesterol levels ( 30275531 ) Triglyceride levels ( 28334899 29403010 33339817 ) Triglycerides ( 20686565 25961943 24097068 )
Interacting Genes		9 interacting genes: CHRNA4 CHRNB1 DAG1 GRB2 KHDRBS1 KLHL8 MUSK TRIM54 UBE2Z	13 interacting genes: ARMC9 ATXN1 CA8 COIL MAPK9 PNMT PPM1F RAPSN RLBP1 SULT2B1 TEX101 TP53I13 USP7
Entrez ID		5913	57563
HPRD ID		03353	13928
Ensembl ID		ENSG00000165917	ENSG00000145332
Uniprot IDs		A0A0S2Z4A2 A0A0S2Z4A6 A0A0S2Z4F8 A0A0S2Z4M9 Q13702	B3KY78 Q68DU9 Q9P2G9
PDB IDs		Not available	Not available
GO Terms Enriched among Interactors		Acetylcholine Binding Behavioral Response To Nicotine Postsynaptic Membrane Acetylcholine Receptor Activity Acetylcholine-gated Monoatomic Cation-selective Channel Activity Acetylcholine-gated Channel Complex Schwann Cell Development Synaptic Transmission, Cholinergic Ligand-gated Monoatomic Ion Channel Activity Neuromuscular Synaptic Transmission Extracellular Ligand-gated Monoatomic Ion Channel Activity SH2 Domain Binding Acetylcholine Receptor Signaling Pathway Postsynaptic Signal Transduction Membrane Depolarization Excitatory Postsynaptic Potential Muscle Attachment Glial Cell Development Guanyl-nucleotide Exchange Factor Adaptor Activity Positive Regulation Of Protein Geranylgeranylation Grb2-Sos Complex Trans-synaptic Signaling Synaptic Signaling Neuromuscular Junction Synapse Calcium-dependent Cell-matrix Adhesion Myelination Axon Ensheathment Grb2-EGFR Complex Regulation Of Postsynaptic Membrane Potential SH3 Domain Binding Retrograde Trans-synaptic Signaling By Trans-synaptic Protein Complex Nerve Maturation Cell-cell Signaling Monoatomic Ion Channel Activity Signaling Adult Behavior Response To Denervation Involved In Regulation Of Muscle Adaptation Morphogenesis Of A Branching Structure Trans-synaptic Signaling By Trans-synaptic Complex Morphogenesis Of A Branching Epithelium Laminin-1 Binding Schwann Cell Differentiation Photoreceptor Ribbon Synapse Dystroglycan Complex Contractile Ring Antigen Receptor-mediated Signaling Pathway Neurotrophin TRKA Receptor Binding Positive Regulation Of RNA Export From Nucleus Cell Communication	None