• Gene id: 133060

Gene Summary

• Gene Symbol: OTOP1   Gene   UCSC   Ensembl
• Gene name: otopetrin 1
• Alternate names: proton channel OTOP1,
• Gene location: 4p16.3 (4226928: 4188725)     Exons: 6     NC_000004.12
• Gene summary(Entrez): This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of

Protein Summary

• Protein general information: Q7RTM1  
  • Name: Proton channel OTOP1 (Otopetrin 1) (hOtop1)
  • Length: 612  
  • Mass: 67353
• Sequence:

  MLEGLGSPASPRAAASASVAGSSGPAACSPPSSSAPRSPESPAPRRGGVRASVPQKLAEMLSSQYGLIVFVAGLL
  LLLAWAVHAAGVSKSDLLCFLTALMLLQLLWMLWYVGRSSAHRRLFRLKDTHAGAGWLRGSITLFAVITVILGCL
  KIGYFIGFSECLSATEGVFPVTHSVHTLLQVYFLWGHAKDIIQSFKTLERFGVIHSVFTNLLLWANGVLNESKHQ
  LNEHKERLITLGFGNITTVLDDHTPQCNCTPPTLCTAISHGIYYLYPFNIEYQILASTMLYVLWKNIGRKVDSHQ
  HQKMQFKSDGVMVGAVLGLTVLAATIAVVVVYLIHIGRSKTKSESALIMFYLYAITLLMLMGAAGLAGIRIYRID
  EKSLDESKNPARKLDSDLLVGTASGSWLISWGSILAILCAEGHPRYTWYNLPYSILAIVEKYIQNLFIFESIHRE
  PEKLSEDIQTLRVVTVCNGNTMPLASSCPKSGGVARDVAPQGKDMPPAANGNVCMRESHDKEEEKQEESSWGGSP
  SPVRLPRFLQGNAKRKVLRNIAAFLFLCNISLWIPPAFGCRPEYDNGLEEIVFGFEPWIIVVNLAMPFSIFYRMH
  AAASLFEVYCKI

• Structural information:
  • Interpro: IPR004878  
  • STRING: ENSP00000296358
• Other Databases: GeneCards:  OTOP1  Malacards:  OTOP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015252	proton channel activity	IDA	molecular function
GO:1902600	proton transmembrane transport	IDA	biological process
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0060336	negative regulation of interferon-gamma-mediated signaling pathway	ISS	biological process
GO:0031214	biomineral tissue development	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0015252	proton channel activity	IEA	molecular function
GO:0009590	detection of gravity	IEA	biological process
GO:0060336	negative regulation of interferon-gamma-mediated signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq