OTOF

Description		otoferlin
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Trans-Golgi Network Cytosol Plasma Membrane Membrane Basolateral Plasma Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Presynaptic Membrane Cell Projection Synapse
	Molecular Function	Calcium Ion Binding Metal Ion Binding
	Biological Process	Sensory Perception Of Sound Synaptic Vesicle Exocytosis Regulation Of Neurotransmitter Secretion Membrane Fusion
Pathways		Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Sensory processing of sound by inner hair cells of the cochlea
Drugs
Diseases		Deafness, autosomal recessive
GWAS		Metabolite levels (HVA) ( 23319000) Metabolite levels (HVA/MHPG ratio) ( 23319000) Periodontal microbiota ( 22699663)
Novel Interacting Genes		1 novel interacting genes: HNRNPLL
Interacting Genes		4 interacting genes: BTG3 SRPK2 STK39 USP7
Entrez ID		9381
HPRD ID		04727
Ensembl ID		ENSG00000115155
Uniprot IDs		Q9HC10
PDB IDs
Enriched GO Terms of Interacting Partners?		Peptidyl-serine Phosphorylation Positive Regulation Of Sodium Ion Import Across Plasma Membrane Regulation Of RNA Splicing Phosphorylation Protein Serine Kinase Activity Nuclear Body Organization Protein Phosphorylation Protein Serine/threonine Kinase Activity R-loop Processing Nuclear Speck Organization Regulation Of Establishment Of Protein Localization To Chromosome Negative Regulation Of Gene Expression Via Chromosomal CpG Island Methylation Monoubiquitinated Protein Deubiquitination Negative Regulation Of Gluconeogenesis Regulation Of Establishment Of Protein Localization To Telomere DNA Alkylation Repair Symbiont-mediated Disruption Of Host Cell PML Body Regulation Of Telomere Capping Regulation Of Retrograde Transport, Endosome To Golgi Transcription-coupled Nucleotide-excision Repair K48-linked Deubiquitinase Activity Maintenance Of Lens Transparency Chloride Ion Homeostasis Positive Regulation Of Potassium Ion Import Across Plasma Membrane Negative Regulation Of Sodium Ion Transport Positive Regulation Of Lymphocyte Chemotaxis Hypotonic Response Cellular Hyperosmotic Response Chemokine (C-X-C Motif) Ligand 12 Signaling Pathway Transporter Activator Activity Ion Channel Regulator Activity Cellular Response To Potassium Ion Transporter Inhibitor Activity Cellular Hypotonic Response Cellular Response To Chemokine Negative Regulation Of Pancreatic Juice Secretion Intracellular Chloride Ion Homeostasis Positive Regulation Of Sodium Ion Transmembrane Transport Potassium Channel Inhibitor Activity Positive Regulation Of T Cell Chemotaxis Regulation Of T Cell Chemotaxis Regulation Of Potassium Ion Import Negative Regulation Of Sodium Ion Transmembrane Transport Response To Dietary Excess Response To Aldosterone MRNA Processing Response To Potassium Ion Monoatomic Anion Homeostasis Negative Regulation Of Potassium Ion Transmembrane Transport Peptidyl-threonine Phosphorylation
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