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HUMAN:OTOF
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | OTOF (synonyms: FER1L2) | |
| Protein Name(s) | Otoferlin
Fer-1-like protein 2 | |
| External Links | ||
| UniProt | Q9HC10 | |
| EMBL | AF107403 AF183185 AF183186 AF183187 AC093378 AC108070 CH471053 CH471053 AK296272 | |
| IPI | IPI00216362 IPI00216364 IPI00216366 IPI00375559 IPI00893506 | |
| RefSeq | NP_004793.2 NP_919224.1 NP_919303.1 NP_919304.1 | |
| UniGene | Hs.91608 | |
| ProteinModelPortal | Q9HC10 | |
| SMR | Q9HC10 | |
| STRING | Q9HC10 | |
| PhosphoSite | Q9HC10 | |
| DMDM | 116242695 | |
| PRIDE | Q9HC10 | |
| Ensembl | ENST00000272371 | |
| GeneID | 9381 | |
| KEGG | hsa:9381 | |
| UCSC | uc002rhh.1 uc002rhi.1 uc002rhj.1 uc002rhk.1 | |
| CTD | 9381 | |
| GeneCards | GC02M026419 | |
| H-InvDB | HIX0029812 | |
| HGNC | HGNC:8515 | |
| HPA | HPA007502 HPA012410 | |
| MIM | 601071 603681 | |
| neXtProt | NX_Q9HC10 | |
| Orphanet | 90636 | |
| PharmGKB | PA32841 | |
| eggNOG | prNOG09420 | |
| GeneTree | ENSGT00550000074414 | |
| HOVERGEN | HBG108221 | |
| OMA | QCTMEMA | |
| PhylomeDB | Q9HC10 | |
| NextBio | 35152 | |
| ArrayExpress | Q9HC10 | |
| Bgee | Q9HC10 | |
| CleanEx | HS_OTOF | |
| Genevestigator | Q9HC10 | |
| GermOnline | ENSG00000115155 | |
| GO | GO:0016323 GO:0030054 GO:0005829 GO:0005789 GO:0016021 GO:0005624 GO:0030672 GO:0005509 GO:0006944 GO:0007605 GO:0016079 | |
| InterPro | IPR000008 IPR008973 IPR018029 IPR012968 IPR012561 | |
| Pfam | PF00168 PF08150 PF08151 | |
| SMART | SM00239 | |
| SUPFAM | SSF49562 | |
| PROSITE | PS50004 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0003674 |
molecular function |
ND: No biological Data available |
|
F |
Seeded From UniProt |
|||
| GO:0005509 |
calcium ion binding |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000073803 |
F |
Seeded From UniProt |
|||
| GO:0005509 |
calcium ion binding |
ISS: Inferred from Sequence or Structural Similarity |
F |
Seeded From UniProt |
||||
| GO:0005624 |
membrane fraction |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005783 |
endoplasmic reticulum |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005789 |
endoplasmic reticulum membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0097 |
C |
Seeded From UniProt |
|||
| GO:0005829 |
cytosol |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005886 |
plasma membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005886 |
plasma membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0039 |
C |
Seeded From UniProt |
|||
| GO:0006944 |
cellular membrane fusion |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0007605 |
sensory perception of sound |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0007605 |
sensory perception of sound |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016020 |
membrane |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0016079 |
synaptic vesicle exocytosis |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000073803 |
P |
Seeded From UniProt |
|||
| GO:0016079 |
synaptic vesicle exocytosis |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0016323 |
basolateral plasma membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0026 |
C |
Seeded From UniProt |
|||
| GO:0030054 |
cell junction |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0030672 |
synaptic vesicle membrane |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000073803 |
C |
Seeded From UniProt |
|||
| GO:0030672 |
synaptic vesicle membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0260 |
C |
Seeded From UniProt |
|||
| GO:0030672 |
synaptic vesicle membrane |
ISS: Inferred from Sequence or Structural Similarity |
C |
Seeded From UniProt |
||||
| GO:0031410 |
cytoplasmic vesicle |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0045202 |
synapse |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
| |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Yasunaga S et al. (1999) A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21: 363-9 PubMed GONUTS page
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