View source for 1kqo

{{STRUCTURE_1kqo|  PDB=1kqo  |  SCENE=  }} 
===Crystal structure of NMN/NaMN adenylyltransferase complexed with deamido-NAD===
{{ABSTRACT_PUBMED_11788603}}

==Disease==
[[http://www.uniprot.org/uniprot/NMNA1_HUMAN NMNA1_HUMAN]] Defects in NMNAT1 are the cause of Leber congenital amaurosis 9 (LCA9) [MIM:[http://omim.org/entry/608553 608553]]. A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.<ref>PMID:22842230</ref><ref>PMID:22842231</ref><ref>PMID:22842229</ref><ref>PMID:22842227</ref> 

==Function==
[[http://www.uniprot.org/uniprot/NMNA1_HUMAN NMNA1_HUMAN]] Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following mechanical or toxic insults.<ref>PMID:17402747</ref> 

==About this Structure==
[[1kqo]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1KQO OCA]. 

==Reference==
<ref group="xtra">PMID:011788603</ref><ref group="xtra">PMID:011959140</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Nicotinamide-nucleotide adenylyltransferase]]
[[Category: Binns, D D.]]
[[Category: Grishin, N V.]]
[[Category: Kurnasov, O.]]
[[Category: Marquez, V E.]]
[[Category: Osterman, A L.]]
[[Category: Tomchick, D R.]]
[[Category: Zhang, H.]]
[[Category: Zhou, T.]]
[[Category: Nucleotidyltransferase superfamily]]
[[Category: Transferase]]