Updated
May 2024
|
Retired & discontinued |
Nucleotide change(s)(b) |
Amino acid change(s)(b) |
Organism |
Literature |
(RABIT)NAT1*1 |
|
Reference |
Reference |
Rabbit |
|
(RABIT)NAT1*2 |
|
None in coding region |
None |
Rabbit |
|
(MOUSE)Nat1*1 |
|
Reference |
Reference |
Mouse |
|
(MUSSP)Nat1*2 |
Nat1*30 |
c.642A>G c.684G>A c.695A>G c.699T>C c.795T>C |
p.Ala214= p.Ser228= p.His232Arg p.Cys233= p.Asp265= |
Western wild mouse |
|
(MESAU)Nat1*1 |
|
Reference |
Reference |
Syrian hamster |
|
(MESAU)Nat1*2 |
|
c.60T>C |
p.Asp20= |
Syrian hamster |
|
(MACMU)NAT1*1 |
|
Reference |
Reference |
Rhesus macaque |
|
(MACMU)NAT1*2 |
|
c.244A>G c.321C>T c.540C>T |
p.Met82Val p.His107= p.Leu180= |
Rhesus macaque |
|
(MACMU)NAT1*3 |
|
c.321C>T |
p.His107= |
Rhesus macaque |
|
(MACMU)NAT1*4 |
|
c.152G>C c.321C>T |
p.Gly51Ala p.His107= |
Rhesus macaque |
|
(MACMU)NAT1*5 |
|
c.321C>T c.540C>T |
p.His107= p.Leu180= |
Rhesus macaque |
|
(MACMU)NAT1*6 |
|
c.321C>T c.523T>C c.540C>T |
p.His107= p.Phe175Leu p.Leu180= |
Rhesus macaque |
|
(MACMU)NAT1*7 |
|
c.321C>T c.560G>A |
p.His107= p.Arg187Gln |
Rhesus macaque |
|
(MACMU)NAT1*8 |
|
c.15A>G |
p.Ala5= |
Rhesus macaque |
|
(MACMU)NAT1*9 |
|
c.321C>T c.493A>C |
p.His107= p.Arg165= |
Rhesus macaque |
|
(MACMU)NAT1*10 |
|
c.267G>C c.321C>T c.343G>T c.463G>C |
p.Leu89Phe p.His107= p.Asp115Tyr p.Glu155Gln |
Rhesus macaque |
|
(MACMU)NAT1*11 |
|
c.321C>T c.343G>T |
p.His107= p.Asp115Tyr |
Rhesus macaque |
|
(MACMU)NAT1*12 |
|
c.177C>T c.321C>T |
p.Val59= p.His107= |
Rhesus macaque |
(a)
The gene symbols are assigned according to the current guidelines
of the NAT Gene Nomenclature
Committee. Previous
(b)
The position of SNPs in each
ORF is determined relative to the A of the ATG translation initiation codon,
which is always considered as number 1. The first methionine of each NAT
protein is amino acid number 1, with polymorphic amino acid positions determined
accordingly. The reference allele of each NAT1 gene (usually the wild
type allele or the first allele identified in a specific organism) is assigned
symbol NAT1*1.
(c)
Studied western European
house mouse (Mus musculus)
laboratory strains: i) inbred C57Bl/6J [4,5], Balb/c
[6], C3H/HeJ [7], 129/Ola
[8], CBA [8], A/J [4,5] and A/HeJ [7], ii)
outbred CD1 [9], PO [8]
and TO [8]. Also, the wild-derived inbred strains Mus
spretus (western wild mouse) and Mus musculus castaneus (southestern
Asian house mouse) [8]. All strains, except Mus
spretus, carry the wild type allele (MOUSE)Nat1*1
at the Nat1 locus.
For new
submissions or enquiries, please contact Dr. Sotiria Boukouvala (sboukouv@mbg.duth.gr).
[1] Hein,
D.W.; Boukouvala, S.; Grant, D.M.; Minchin, R.F. and Sim, E. (2008) Changes
in consensus arylamine N-acetyltransferase
gene nomenclature. Pharmacogenet. Genomics 18(4),
367-368.
[2] Blum,
M.; Heim, M. and Meyer, U.A. (1990) Nucleotide sequence of rabbit
NAT1 encoding monomorphic arylamine N-acetyltransferase.
Nucl. Acids Res. 18(17), 5287.
[3] Sasaki,
Y.; Ohsako, S. and Deguchi, T. (1991) Molecular and genetic analyses of
arylamine N-acetyltransferase polymorphism of rabbit liver. J. Biol.
Chem. 266(20), 13243-13250.
[4] Martell,
K.J.; Vatsis, K.P. and Weber, W.W. (1991) Molecular genetic basis of rapid
and slow acetylation in mice. Mol. Pharmacol. 40(2), 218-227.
[5] Martell,
K.J.; Levy, G.N. and Weber, W.W. (1992) Cloned mouse N-acetyltransferases:
Enzymatic properties of expressed Nat1 and Nat2 gene products. Mol.
Pharmacol. 42(2), 265-272.
[6] Kelly, S.L. and Sim, E. (1994) Arylamine N-acetyltransferase in Balb/c mice: identification of a novel mouse isoenzyme by cloning and expression in vitro. Biochem. J. 302(2), 347-353.
[7] Fretland,
A.J.; Doll, M.A.; Gray, K.; Feng, Y. and Hein, D.W. (1997) Cloning,
expression and recombinant expression of
[8] Boukouvala,
S.; Price, N. and Sim, E. (2002) Identification and functional
characterization of novel polymorphisms associated with the genes for arylamine
N-acetyltransferases in mice. Pharmacogenetics 12(5), 385-394.
[9] Estrada,
L.; Kanelakis, K.C.; Levy, G.N. and Weber, W.W. (2000) Tissue- and
gender-specific expression of N-acetyltransferase 2 (NAT2*) during development of the outbred mouse strain CD-1. Drug Metab. Dispos. 28(2), 139-146.
[10] Abu-Zeid, M.; Nagata, K.; Miyata, M.; Ozawa, S.; Fukuhara, M.; Yamazoe, Y. and Kato, R. (1991) An arylamine acetyltransferase (AT-1) from Syrian golden hamster liver: Cloning, complete nucleotide sequence and expression in mammalian cells. Mol. Carcinogen. 4(1), 81-88.
[11] Ferguson,
R.J., Doll, M.A., Rustan, T.D., Baumstark, B.R. and Hein, D.W. (1994)
Syrian hamster monomorphic N-acetyltransferase (NAT1) alleles: Amplification, cloning, sequencing, and expression
in E. coli. Pharmacogenetics 4(2), 82-90.
[12] Land,
S.J.; Jones, R.E. and King, C.M. (1994) Biochemical and genetic analysis of
two acetyltransferases from hamster tissues that can metabolise aromatic amine
derivatives. Carcinogenesis 15(8), 1585-1595.
[13] Boukouvala,
S.; Chasapopoulou, Z.; Giannouri, D.; Kontomina, E.; Marinakis, N.; Rizou.
S.V.; Stefani, I.; Tsirka, T.; Veyssière, C.; Zaliou, S.; Sabbagh, A.;
Crouau-Roy, B. and Fakis, G. (2019) Population variability of rhesus
macaque (Macaca mulatta) NAT1 gene for arylamine N-acetyltransferase 1: Functional effects
and comparison with human. Sci. Rep. 9, 10937