Methyltransferase HEMK2

HEMK2
Identifiers
Aliases	HEMK2, C21orf127, MTQ2, N6AMT, m.HsaHemK2P, PRED28, N-6 adenine-specific DNA methyltransferase 1 (putative), N-6 adenine-specific DNA methyltransferase 1, PrmC, KMT9, N6AMT1, HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine
External IDs	OMIM: 614553; MGI: 1915018; GeneCards: HEMK2
Gene location (Human)
Chr.	Chromosome 21 (human)
End	28,885,371 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	87,165,630 bp
RNA expression pattern
	Top expressed in
	testicle; ; gonad; ; ventricular zone; ; right uterine tube; ; apex of heart; ; left ovary; ; right adrenal gland; ; right adrenal cortex; ; ganglionic eminence; ; body of uterus;
	Top expressed in
	interventricular septum; ; superior cervical ganglion; ; hand; ; genital tubercle; ; yolk sac; ; right kidney; ; spinal ganglia; ; Rostral migratory stream; ; tail of embryo; ; proximal tubule;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleic acid binding; methyltransferase activity; protein methyltransferase activity; transferase activity; protein binding; S-adenosylmethionine-dependent methyltransferase activity;
Cellular component	cytosol; cytoplasm; protein-containing complex;
Biological process	positive regulation of cell growth; protein methylation; methylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	29104
	67768
	ENSG00000156239
	ENSMUSG00000044442
	Q9Y5N5
	Q6SKR2
	NM_013240; NM_182749
	NM_001159331; NM_026366
	NP_037372; NP_877426
	NP_001152803; NP_080642
	Wikidata
View/Edit Human	View/Edit Mouse

Methyltransferase HEMK2 is an enzyme that in humans is encoded by the HEMK2 gene (previously N6AMT1). HEMK2 binds to TRMT112 to form a heterodimer, which performs protein methylation. HEMK2 also has some ability to methylate arsenic, but seems to have a much lesser role in arsenic metabolism than AS3MT. It was previously reported that this enzyme functioned as a N₆-adenine-specific DNA methyltransferase, hence its previous symbol N6AMT1, but later studies failed to confirm this result.

Function

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 monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]. HEMK2 functions as a protein glutamine methyltransferase and is essential for mouse development (Liu et al., Mol. Cell. Biol. 2010).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000156239 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000044442 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: N-6 adenine-specific DNA methyltransferase 1". Retrieved 2018-08-24.
1 2 3 "Methyltransferase HEMK2". uniprot.org. UniProt consortium. Retrieved 2026-09-11.

Figaro S, Scrima N, Buckingham RH, Heurgué-Hamard V (July 2008). "HemK2 protein, encoded on human chromosome 21, methylates translation termination factor eRF1". FEBS Lett. 582 (16): 2352–6. Bibcode:2008FEBSL.582.2352F. doi:10.1016/j.febslet.2008.05.045. PMID 18539146. S2CID 38589664.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
Ren X, Aleshin M, Jo WJ, Dills R, Kalman DA, Vulpe CD, Smith MT, Zhang L (June 2011). "Involvement of N-6 adenine-specific DNA methyltransferase 1 (N6AMT1) in arsenic biomethylation and its role in arsenic-induced toxicity". Environ. Health Perspect. 119 (6): 771–7. Bibcode:2011EnvHP.119..771R. doi:10.1289/ehp.1002733. PMC 3114810. PMID 21193388.
Harari F, Engström K, Concha G, Colque G, Vahter M, Broberg K (July 2013). "N-6-adenine-specific DNA methyltransferase 1 (N6AMT1) polymorphisms and arsenic methylation in Andean women". Environ. Health Perspect. 121 (7): 797–803. Bibcode:2013EnvHP.121..797H. doi:10.1289/ehp.1206003. PMC 3702000. PMID 23665909.
Chen X, Guo X, He P, Nie J, Yan X, Zhu J, Zhang L, Mao G, Wu H, Liu Z, Aga D, Xu P, Smith M, Ren X (January 2017). "Interactive Influence of N6AMT1 and As3MT Genetic Variations on Arsenic Metabolism in the Population of Inner Mongolia, China". Toxicol. Sci. 155 (1): 124–134. doi:10.1093/toxsci/kfw181. PMC 5216648. PMID 27637898.

Peng Liu, Song Nie, Bing Li, Zhong-Qiang Yang, Zhi-Mei Xu, Jian Fei, Chyuansheng Lin, Rong Zeng, and Guo-Liang Xu. Deficiency in a Glutamine-Specific Methyltransferase for Release Factor Causes Mouse Embryonic Lethality. MOLECULAR AND CELLULAR BIOLOGY, Sept. 2010, p. 4245–4253 Vol. 30, No. 17 0270-7306/10/

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000156239 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000044442 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: N-6 adenine-specific DNA methyltransferase 1". Retrieved 2018-08-24.

[uniprot-6] 1 2 3 "Methyltransferase HEMK2". uniprot.org. UniProt consortium. Retrieved 2026-09-11.

Methyltransferase HEMK2

Function

References

Further reading