GPHN

Gene Name		gephyrin
Image
Gene Ontology Annotations	Cellular Component	Cytoplasm Cytoskeleton Plasma Membrane Cell Junction Postsynaptic Membrane Inhibitory Synapse
	Molecular Function	ATP Binding Transferase Activity Metal Ion Binding Molybdopterin Adenylyltransferase Activity Molybdopterin Molybdotransferase Activity
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Mo-molybdopterin Cofactor Biosynthetic Process Establishment Of Synaptic Specificity At Neuromuscular Junction Molybdenum Incorporation Into Molybdenum-molybdopterin Complex Molybdopterin Cofactor Biosynthetic Process Small Molecule Metabolic Process Glycine Receptor Clustering
Pathways		Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective GIF causes intrinsic factor deficiency Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 Molybdenum cofactor biosynthesis Defective AMN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Defects in vitamin and cofactor metabolism Defects in cobalamin (B12) metabolism
Drugs
Diseases
GWAS		Depression (quantitative trait) ( 23290196)
Protein-protein Interactions		13 interactors: ACADVL ARHGEF9 DYNLL1 DYNLL2 ENAH GABARAP GLRB KHDRBS1 MTOR PFN1 PIN1 SPATS1 TUBA4A
Entrez ID		10243
HPRD ID		04893
Ensembl ID		ENSG00000171723
Uniprot IDs		F5H039 F8W7D6 Q9NQX3
PDB IDs		1JLJ
Enriched GO Terms of Interacting Partners?		Cellular Response To Stimulus Response To Stimulus Signal Transduction Apoptotic Signaling Pathway Signaling G2/M Transition Of Mitotic Cell Cycle Cell Communication Positive Regulation Of Organelle Organization Regulation Of Intracellular Transport Regulation Of Organelle Organization Positive Regulation Of Protein Insertion Into Mitochondrial Membrane Involved In Apoptotic Signaling Pathway Positive Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway Regulation Of Fatty Acid Oxidation Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway Cytoskeleton Organization Cellular Response To Organic Substance Positive Regulation Of Intracellular Transport Positive Regulation Of Stress Fiber Assembly Positive Regulation Of Actin Filament Bundle Assembly Mitotic Cell Cycle Phase Transition Cell Cycle Phase Transition Cell Surface Receptor Signaling Pathway Regulation Of Rho GTPase Activity Positive Regulation Of Mitochondrion Organization Microtubule-based Process Regulation Of Stress Fiber Assembly Regulation Of Carbohydrate Utilization Synaptic Target Recognition Regulation Of Catalytic Activity Regulation Of Rho Protein Signal Transduction Exocytosis Platelet Degranulation Positive Regulation Of Translation Response To Organic Substance Transport Regulation Of Fatty Acid Metabolic Process Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class II Antigen Processing And Presentation Of Peptide Antigen Via MHC Class II Regulation Of Mitochondrion Organization Positive Regulation Of RNA Export From Nucleus Apoptotic Process Programmed Cell Death Regulation Of Signal Transduction Antigen Processing And Presentation Of Peptide Or Polysaccharide Antigen Via MHC Class II Neural Tube Closure Regulation Of Cellular Localization Positive Regulation Of Hydrolase Activity Positive Regulation Of Actin Filament Polymerization Cell Death Death
Tagcloud ?		albeit bcl2 characterizing copy cytogenetic ep300 fl gains hit hodgkin igh illustrate incompletely infrequently insufficient karyotype losses lymphoblastic lymphoma neil1 principally q21 q32 rearrangement specimen transform translocations warrant workup