• Gene id: 138199

Gene Summary

• Gene Symbol: CARNMT1   Gene   UCSC   Ensembl
• Aliases: C9orf41, UPF0586
• Gene name: carnosine N-methyltransferase 1
• Alternate names: carnosine N-methyltransferase, UPF0586 protein C9orf41,
• Gene location: 9q21.13 (75028455: 74980789)     Exons: 13     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isof
• OMIM: 0

Protein Summary

• Protein general information: Q8N4J0  
  • Name: Carnosine N methyltransferase (EC 2.1.1.22)
  • Length: 409  
  • Mass: 47186
  • Tissue specificity: Expressed at higher level in kidney. Expressed at lower level in brain and skeletal muscle. {ECO
• Sequence:

  MQRRRRPPPPTSRLPEGCGGGGGGSEEVEVQFSAGRWGSAAAVSAAAAAATRSTEEEEERLEREHFWKIINAFRY
  YGTSMHERVNRTERQFRSLPANQQKLLPQFLLHLDKIRKCIDHNQEILLTIVNDCIHMFENKEYGEDGNGKIMPA
  STFDMDKLKSTLKQFVRDWSETGKAERDACYQPIIKEILKNFPKERWDPSKVNILVPGAGLGRLAWEIAMLGYAC
  QGNEWSFFMLFSSNFVLNRCSEINKYKLYPWIHQFSNNRRSADQIRPIFFPDVDPHSLPPGSNFSMTAGDFQEIY
  SECNTWDCIATCFFIDTAHNVIDYIDTIWKILKPGGIWINLGPLLYHFENLANELSIELSYEDIKNVVLQYGFKV
  EVEKESVLSTYTVNDLSMMKYYYECVLFVVRKPQ

• Structural information:
  • Interpro: IPR012901  IPR029063  
  • PDB: 5YF0 5YF1 5YF2
  • PDBsum: 5YF0 5YF1 5YF2
  • STRING: ENSP00000366030
• Other Databases: GeneCards:  CARNMT1  Malacards:  CARNMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IBA	molecular function
GO:0035498	carnosine metabolic process	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0030735	carnosine N-methyltransferase activity	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0035498	carnosine metabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0030735	carnosine N-methyltransferase activity	IDA	molecular function
GO:0030735	carnosine N-methyltransferase activity	IDA	molecular function
GO:0035498	carnosine metabolic process	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0030735	carnosine N-methyltransferase activity	IEA	molecular function
GO:0030735	carnosine N-methyltransferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006548	histidine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881