• Gene id: 56888

Gene Summary

• Gene Symbol: KCMF1   Gene   UCSC   Ensembl
• Aliases: DEBT91, FIGC, PCMF, ZZZ1
• Gene name: potassium channel modulatory factor 1
• Alternate names: E3 ubiquitin-protein ligase KCMF1, FGF-induced in gastric cancer, FGF-induced ubiquitin-protein ligase in gastric cancers, RING-type E3 ubiquitin transferase KCMF1, ZZ-type zinc finger-containing protein 1, differentially expressed in branching tubulogenesis 9,
• Gene location: 2p11.2 (84971160: 85059471)     Exons: 9     NC_000002.12
• OMIM: 0

Protein Summary

• Protein general information: Q9P0J7  
  • Name: E3 ubiquitin protein ligase KCMF1 (EC 2.3.2.27) (FGF induced in gastric cancer) (Potassium channel modulatory factor) (PCMF) (RING type E3 ubiquitin transferase KCMF1) (ZZ type zinc finger containing protein 1)
  • Length: 381  
  • Mass: 41945
  • Tissue specificity: Spleen, small intestine, ovary, peripheral blood, lung, kidney and pancreas. Expressed at low levels in the thymus, prostate, testis, colon, heart, brain, placenta and liver. {ECO
• Sequence:

  MSRHEGVSCDACLKGNFRGRRYKCLICYDYDLCASCYESGATTTRHTTDHPMQCILTRVDFDLYYGGEAFSVEQP
  QSFTCPYCGKMGYTETSLQEHVTSEHAETSTEVICPICAALPGGDPNHVTDDFAAHLTLEHRAPRDLDESSGVRH
  VRRMFHPGRGLGGPRARRSNMHFTSSSTGGLSSSQSSYSPSNREAMDPIAELLSQLSGVRRSAGGQLNSSGPSAS
  QLQQLQMQLQLERQHAQAARQQLETARNATRRTNTSSVTTTITQSTATTNIANTESSQQTLQNSQFLLTRLNDPK
  MSETERQSMESERADRSLFVQELLLSTLVREESSSSDEDDRGEMADFGAMGCVDIMPLDVALENLNLKESNKGNE
  PPPPPL

• Structural information:
  • Interpro: IPR008598  IPR039858  IPR013087  IPR000433  
  • Prosite: PS01357 PS50135 PS50157
  • DIP: 47300
  • STRING: ENSP00000386738
• Other Databases: GeneCards:  KCMF1  Malacards:  KCMF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099536	synaptic signaling	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray