• Gene id: 144577

Gene Summary

• Gene Symbol: C12orf66   Gene   UCSC   Ensembl
• Gene name: chromosome 12 open reading frame 66
• Alternate names: KICSTOR complex protein C12orf66, UPF0536 protein C12orf66,
• Gene location: 12q14.2 (64222295: 64186311)     Exons: 26     NC_000012.12
• OMIM: 617420

Protein Summary

• Protein general information: Q96MD2  
  • Name: KICSTOR complex protein C12orf66
  • Length: 445  
  • Mass: 50415
• Sequence:

  MGESIPLAAPVPVEQAVLETFFSHLGIFSYDKAKDNVEKEREANKSAGGSWLSLLAALAHLAAAEKVYHSLTYLG
  QKLGGQSFFSRKDSIRTIYTSLHNELKKVVTGRGALGGTAPHVEELLSHLSEQLCFFVQARMEMADFYEKMYTLS
  TQKFINAEELVGLLDAIMKKYSSRFHHPILSPLESSFQLEVDVLCHLLKAQAQVSEWKFLPSLVNLHSAHTKLQT
  WGQIFEKQRETKKHLFGGQSQKAVQPPHLFLWLMKLKNMLLAKFSFYFHEALSRQTTASEMKTLTAKANPDFFGK
  ISSFIRKYDAANVSLIFDNRGSESFQGHGYHHPHSYREAPKGVDQYPAVVSLPSDRPVMHWPNVIMIMTDRTSDL
  NSLEKVVHFYDDKVQSTYFLTRPEPHFTIVIIFESKKSERDSHFISFLNEVSLALKNPKVFASLKPGAKG

• Structural information:
  • Interpro: IPR018544  IPR038060  
  • STRING: ENSP00000311486
• Other Databases: GeneCards:  C12orf66  Malacards:  C12orf66

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034198	cellular response to amino acid starvation	IBA	biological process
GO:0042149	cellular response to glucose starvation	IBA	biological process
GO:0061462	protein localization to lysosome	IBA	biological process
GO:0140007	KICSTOR complex	IBA	cellular component
GO:1904262	negative regulation of TORC1 signaling	IBA	biological process
GO:0140007	KICSTOR complex	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0042149	cellular response to glucose starvation	IMP	biological process
GO:0061462	protein localization to lysosome	IMP	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)