• Gene id: 134145

Gene Summary

• Gene Symbol: ATPSCKMT   Gene   UCSC   Ensembl
• Aliases: FAM173B, JS-2, hFAM173B
• Gene name: ATP synthase c subunit lysine N-methyltransferase
• Alternate names: ATP synthase subunit C lysine N-methyltransferase, family with sequence similarity 173 member B, protein FAM173B, protein N-lysine methyltransferase FAM173B,
• Gene location: 5p15.2 (132656521: 132661109)     Exons: 6     NC_000005.10
• OMIM: 618568

Protein Summary

• Protein general information: Q6P4H8  
  • Name: ATP synthase subunit C lysine N methyltransferase (EC 2.1.1. ) (Protein N lysine methyltransferase FAM173B) (hFAM173B)
  • Length: 233  
  • Mass: 26110
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MEGGGGIPLETLKEESQSRHVLPASFEVNSLQKSNWGFLLTGLVGGTLVAVYAVATPFVTPALRKVCLPFVPATT
  KQIENVVKMLRCRRGSLVDIGSGDGRIVIAAAKKGFTAVGYELNPWLVWYSRYRAWREGVHGSAKFYISDLWKVT
  FSQYSNVVIFGVPQMMLQLEKKLERELEDDARVIACRFPFPHWTPDHVTGEGIDTVWAYDASTFRGREKRPCTSM
  HFQLPIQA

• Structural information:
  • Interpro: IPR026170  IPR029063  
  • STRING: ENSP00000422338
• Other Databases: GeneCards:  ATPSCKMT  Malacards:  ATPSCKMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0030061	mitochondrial crista	IDA	cellular component
GO:0018022	peptidyl-lysine methylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:1905706	regulation of mitochondrial ATP synthesis coupled proton transport	IMP	biological process
GO:1905273	positive regulation of proton-transporting ATP synthase activity, rotational mechanism	IMP	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IMP	molecular function
GO:0018023	peptidyl-lysine trimethylation	IMP	biological process
GO:1904058	positive regulation of sensory perception of pain	IMP	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1905706	regulation of mitochondrial ATP synthesis coupled proton transport	IEA	biological process
GO:1905273	positive regulation of proton-transporting ATP synthase activity, rotational mechanism	IEA	biological process
GO:0018023	peptidyl-lysine trimethylation	IEA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:1904058	positive regulation of sensory perception of pain	IEA	biological process
GO:0031966	mitochondrial membrane	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)