Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein OTOF

otoferlin
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • C2: Protein kinase C conserved region 2 (CalB)
  • TM: Transmembrane domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    FER1L2; Fer-1 like protein 2; DFNB6; DFNB9; NSRD9; Otoferlin isoform b; Otoferlin isoform a; Otoferlin isoform c; Otoferlin isoform d
    Approved Symbol:
    OTOF
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Auditory neuropathy, autosomal recessive, 1(Pd);
  • Auditory neuropathy, nonsyndromic recessive(Pd);
  • Deafness, autosomal recessive 9(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 04727 Entrez Gene ID: 9381 OMIM ID: 603681 Swissprot Accession: Q9HC10; B9A0H6;