• Gene id: 29104

Gene Summary

• Gene Symbol: N6AMT1   Gene   UCSC   Ensembl
• Aliases: C21orf127, HEMK2, KMT9, MTQ2, N6AMT, PRED28, PrmC, m.HsaHemK2P
• Gene name: N-6 adenine-specific DNA methyltransferase 1
• Alternate names: methyltransferase N6AMT1, HemK methyltransferase family member 2, N-6 adenine-specific DNA methyltransferase 1 (putative), N6-DNA-methyltransferase, methylarsonite methyltransferase N6AMT1, protein N(5)-glutamine methyltransferase,
• Gene location: 21q21.3 (28885372: 28439660)     Exons: 13     NC_000021.9
• Gene summary(Entrez): This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonou
• OMIM: 604102

Protein Summary

• Protein general information: Q9Y5N5  
  • Name: Methyltransferase N6AMT1 (HemK methyltransferase family member 2) (M.HsaHemK2P) (Methylarsonite methyltransferase N6AMT1) (EC 2.1.1. ) (N(6) adenine specific DNA methyltransferase 1) (EC 2.1.1.72) (Protein N(5) glutamine methyltransferase) (EC 2.1.1. )
  • Length: 214  
  • Mass: 22957
  • Tissue specificity: Widely expressed, with highest expression in parathyroid and pituitary glands, followed by adrenal gland and kidney, and lowest expression in leukocytes and mammary gland. {ECO
• Sequence:

  MAGENFATPFHGHVGRGAFSDVYEPAEDTFLLLDALEAAAAELAGVEICLEVGSGSGVVSAFLASMIGPQALYMC
  TDINPEAAACTLETARCNKVHIQPVITDLVKGLLPRLTEKVDLLVFNPPYVVTPPQEVGSHGIEAAWAGGRNGRE
  VMDRFFPLVPDLLSPRGLFYLVTIKENNPEEILKIMKTKGLQGTTALSRQAGQETLSVLKFTKS

• Structural information:
  • Interpro: IPR002052  IPR004557  IPR029063  IPR007848  
  • Prosite: PS00092
  • PDB: 6H1D 6H1E 6K0X 6KMR 6KMS 6PED
  • PDBsum: 6H1D 6H1E 6K0X 6KMR 6KMS 6PED
  • STRING: ENSP00000303584
• Other Databases: GeneCards:  N6AMT1  Malacards:  N6AMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035657	eRF1 methyltransferase complex	IBA	cellular component
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IBA	molecular function
GO:0008276	protein methyltransferase activity	IBA	molecular function
GO:0036009	protein-glutamine N-methyltransferase activity	IDA	molecular function
GO:0032259	methylation	IDA	biological process
GO:0030792	methylarsonite methyltransferase activity	IDA	molecular function
GO:0009007	site-specific DNA-methyltransferase (adenine-specific) activity	IDA	molecular function
GO:0018364	peptidyl-glutamine methylation	IDA	biological process
GO:0018872	arsonoacetate metabolic process	IDA	biological process
GO:0009404	toxin metabolic process	IDA	biological process
GO:0032775	DNA methylation on adenine	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0032259	methylation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0009007	site-specific DNA-methyltransferase (adenine-specific) activity	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0008276	protein methyltransferase activity	IDA	molecular function
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006415	translational termination	TAS	biological process
GO:0032259	methylation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0018364	peptidyl-glutamine methylation	IEA	biological process
GO:0036009	protein-glutamine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq