• Gene id: 56914

Gene Summary

• Gene Symbol: OTOR   Gene   UCSC   Ensembl
• Aliases: FDP, MIAL1
• Gene name: otoraplin
• Alternate names: otoraplin, fibrocyte-derived protein, melanoma inhibitory activity-like protein,
• Gene location: 20p12.1 (16748357: 16752163)     Exons: 4     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this g
• OMIM: 606067

Protein Summary

• Protein general information: Q9NRC9  
  • Name: Otoraplin (Fibrocyte derived protein) (Melanoma inhibitory activity like protein)
  • Length: 128  
  • Mass: 14332
  • Tissue specificity: Highly expressed in cochlea.
• Sequence:

  MARILLLFLPGLVAVCAVHGIFMDRLASKKLCADDECVYTISLASAQEDYNAPDCRFINVKKGQQIYVYSKLVKE
  NGAGEFWAGSVYGDGQDEMGVVGYFPRNLVKEQRVYQEATKEVPTTDIDFFCE

• Structural information:
  • Protein Domains: (39..11-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR042801  IPR035554  IPR036028  IPR001452  
  • Prosite: PS50002
  • CDD: cd11891
  • STRING: ENSP00000246081
• Other Databases: GeneCards:  OTOR  Malacards:  OTOR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001502	cartilage condensation	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001502	cartilage condensation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)