| Gene Information | |
|---|---|
| Gene Name | OTOF |
| Organism | Homo sapiens (Human) |
| Gene Length | 1997 |
| Protein Names | Otoferlin (Fer-1-like protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000115155 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9HC10 |
| Gene Card | OTOF |
| Uniprot ID | Q9HC10 |
| Pfam | PF00168; PF08150; PF08151; PF16165 |
| In ASD | no |
| Allosteric Prediction | no (-0.581614579) |
| Ortholog in Animals | Alpaca_ OTOF ( ortholog_one2one ) Dog_ OTOF ( ortholog_one2one ) GuineaPig_ OTOF ( ortholog_one2one ) Macaque_ OTOF ( ortholog_one2one ) Mouse_ Otof ( ortholog_one2one ) Pig_ OTOF ( ortholog_one2one ) Rat_ Otof ( ortholog_one2one ) Rabbit_ OTOF ( ortholog_one2one ) |
| Ohnologs | FER1L4, FER1L6 |
| Paralogs | DYSF, FER1L5, MYOF, FER1L6 |
| Tissue | NA |
| Tissue Specificity | Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1879761 rs13031859 rs397515611 rs80356585 rs80356586 rs55676840 rs80356592 rs2272070 rs80356570 rs201329629 rs80356596 rs80356574 rs397515599 rs56054534 rs368633281 rs80356576 rs546115388 rs80356579 rs17005371 rs11893228 rs397515606 rs28937591 rs45442103 rs80356583 rs80356605 rs80356606 |
| Subcellular location [CC] | Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q9ESF1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9ESF1}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q9ESF1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9ESF1}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9ESF1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9ESF1}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9ESF1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9ESF1}. Presynaptic cell membrane {ECO:0000250|UniProtKB:Q9ESF1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9ESF1}. Cell membrane {ECO:0000250|UniProtKB:Q9ESF1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9ESF1}. Note=Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs) at postnatal day 30 (P30). Colocalizes with GPR25 and RAB8B in inner hair cells. {ECO:0000250|UniProtKB:Q9ESF1}. |
| Mouse PG classification | HPG |
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