• Gene id: 127003

Gene Summary

• Gene Symbol: C1orf194   Gene   UCSC   Ensembl
• Gene name: chromosome 1 open reading frame 194
• Alternate names: protein C1orf194, uncharacterized protein C1orf194,
• Gene location: 1p13.3 (109113830: 109105950)     Exons: 6     NC_000001.11
• OMIM: 618682

Protein Summary

• Protein general information: Q5T5A4  
  • Name: Protein C1orf194
  • Length: 169  
  • Mass: 19350
  • Tissue specificity: Expressed in cerebrum, cerebellum, gastrocnemius muscle, spinal cord and lung tissues. {ECO
• Sequence:

  MPPTRDPFQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPWSRLNSTPTITSMRRDAYYFDPEIPKDDLDFR
  LAALYNHHTGTFKNKSEILLNQKTTQDTYRTKIQFPGEFLTPPTPPITFLANIRHWINPKKESIHSIQGSIVSPH
  TAATNGGYSRKKDGGFFST

• Structural information:
  • Interpro: IPR022179  
  • STRING: ENSP00000358965
• Other Databases: GeneCards:  C1orf194  Malacards:  C1orf194

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Non obstructive azoospermia	MIK: 23869807
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)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)