Sequence of NMNA1_HUMAN
EC Number:2.7.7.18
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP + beta-nicotinate D-ribonucleotide = diphosphate + deamido-NAD+
Other sequences found for EC No. 2.7.7.18
General information:
Sequence
0 MENSEKTEVV LLACGSFNPI TNMHLRLFEL AKDYMNGTGR YTVVKGIISP VGDAYKKKGL
60 IPAYHRVIMA ELATKNSKWV EVDTWESLQK EWKETLKVLR HHQEKLEASD CDHQQNSPTL
120 ERPGRKRKWT ETQDSSQKKS LEPKTKAVPK VKLLCGADLL ESFAVPNLWK SEDITQIVAN
180 YGLICVTRAG NDAQKFIYES DVLWKHRSNI HVVNEWIAND ISSTKIRRAL RRGQSIRYLV
240 PDLVQEYIEK HNLYSSESED RNAGVILAPL QRNTAEAKT
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
704103
Schweiger M.,Hennig K.,Lerner F.,Niere M.,Hirsch-Kauffmann M.,Specht T.,Weise C.,Oei S.L.,Ziegler M.
Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis.
FEBS Lett.
492
95-100
2001
704104
Emanuelli M.,Carnevali F.,Saccucci F.,Pierella F.,Amici A.,Raffaelli N.,Magni G.
Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase.
J. Biol. Chem.
276
406-412
2001
704105
Fernando F.S.,Conforti L.,Tosi S.,Smith A.D.,Coleman M.P.
Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse.
Gene
284
23-29
2002
704106
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
704107
Gregory S.G.,Barlow K.F.,McLay K.E.,Kaul R.,Swarbreck D.,Dunham A.,Scott C.E.,Howe K.L.,Woodfine K.,Spencer C.C.A.,Jones M.C.,Gillson C.,Searle S.,Zhou Y.,Kokocinski F.,McDonald L.,Evans R.,Phillips K.,Atkinson A.,Cooper R.,Jones C.,Hall R.E.,Andrews T.D.,Lloyd C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Anderson F.,Andrew R.W.,Ashwell R.I.S.,Aubin K.,Babbage A.K.,Bagguley C.L.,Bailey J.,Beasley H.,Bethel G.,Bird C.P.,Bray-Allen S.,Brown J.Y.,Brown A.J.,Buckley D.,Burton J.,Bye J.,Carder C.,Chapman J.C.,Clark S.Y.,Clarke G.,Clee C.,Cobley V.,Collier R.E.,Corby N.,Coville G.J.,Davies J.,Deadman R.,Dunn M.,Earthrowl M.,Ellington A.G.,Errington H.,Frankish A.,Frankland J.,French L.,Garner P.,Garnett J.,Gay L.,Ghori M.R.J.,Gibson R.,Gilby L.M.,Gillett W.,Glithero R.J.,Grafham D.V.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Hammond S.,Harrison E.S.I.,Hart E.,Haugen E.,Heath P.D.,Holmes S.,Holt K.,Howden P.J.,Hunt A.R.,Hunt S.E.,Hunter G.,Isherwood J.,James R.,Johnson C.,Johnson D.,Joy A.,Kay M.,Kershaw J.K.,Kibukawa M.,Kimberley A.M.,King A.,Knights A.J.,Lad H.,Laird G.,Lawlor S.,Leongamornlert D.A.,Lloyd D.M.,Loveland J.,Lovell J.,Lush M.J.,Lyne R.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,Matthews N.S.W.,McLaren S.,Milne S.,Mistry S.,Moore M.J.F.,Nickerson T.,O'Dell C.N.,Oliver K.,Palmeiri A.,Palmer S.A.,Parker A.,Patel D.,Pearce A.V.,Peck A.I.,Pelan S.,Phelps K.,Phillimore B.J.,Plumb R.,Rajan J.,Raymond C.,Rouse G.,Saenphimmachak C.,Sehra H.K.,Sheridan E.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.,Steward C.,Subramanian S.,Sycamore N.,Tracey A.,Tromans A.,Van Helmond Z.,Wall M.,Wallis J.M.,White S.,Whitehead S.L.,Wilkinson J.E.,Willey D.L.,Williams H.,Wilming L.,Wray P.W.,Wu Z.,Coulson A.,Vaudin M.,Sulston J.E.,Durbin R.M.,Hubbard T.,Wooster R.,Dunham I.,Carter N.P.,McVean G.,Ross M.T.,Harrow J.,Olson M.V.,Beck S.,Rogers J.,Bentley D.R.
The DNA sequence and biological annotation of human chromosome 1.
Nature
441
315-321
2006
704109
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
704110
Zhang X.,Kurnasov O.V.,Karthikeyan S.,Grishin N.V.,Osterman A.L.,Zhang H.
Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
J. Biol. Chem.
278
13503-13511
2003
704111
Berger F.,Lau C.,Dahlmann M.,Ziegler M.
Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
J. Biol. Chem.
280
36334-36341
2005
704112
Sorci L.,Cimadamore F.,Scotti S.,Petrelli R.,Cappellacci L.,Franchetti P.,Orsomando G.,Magni G.
Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.
Biochemistry
46
4912-4922
2007
704113
Gauci S.,Helbig A.O.,Slijper M.,Krijgsveld J.,Heck A.J.,Mohammed S.
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Anal. Chem.
81
4493-4501
2009
704114
Koenekoop R.K.,Wang H.,Majewski J.,Wang X.,Lopez I.,Ren H.,Chen Y.,Li Y.,Fishman G.A.,Genead M.,Schwartzentruber J.,Solanki N.,Traboulsi E.I.,Cheng J.,Logan C.V.,McKibbin M.,Hayward B.E.,Parry D.A.,Johnson C.A.,Nageeb M.,Poulter J.A.,Mohamed M.D.,Jafri H.,Rashid Y.,Taylor G.R.,Keser V.,Mardon G.,Xu H.,Inglehearn C.F.,Fu Q.,Toomes C.,Chen R.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Nat. Genet.
44
1035-1039
2012
704115
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
704116
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
704117
Wright R.H.,Lioutas A.,Le Dily F.,Soronellas D.,Pohl A.,Bonet J.,Nacht A.S.,Samino S.,Font-Mateu J.,Vicent G.P.,Wierer M.,Trabado M.A.,Schelhorn C.,Carolis C.,Macias M.J.,Yanes O.,Oliva B.,Beato M.
ADP-ribose-derived nuclear ATP synthesis by NUDIX5 is required for chromatin remodeling.
Science
352
1221-1225
2016
704118
Werner E.,Ziegler M.,Lerner F.,Schweiger M.,Heinemann U.
Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN.
FEBS Lett.
516
239-244
2002
704119
Garavaglia S.,D'Angelo I.,Emanuelli M.,Carnevali F.,Pierella F.,Magni G.,Rizzi M.
Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis.
J. Biol. Chem.
277
8524-8530
2002
704120
Zhou T.,Kurnasov O.,Tomchick D.R.,Binns D.D.,Grishin N.V.,Marquez V.E.,Osterman A.L.,Zhang H.
Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin.
J. Biol. Chem.
277
13148-13154
2002
704121
Bedoni N.,Quinodoz M.,Pinelli M.,Cappuccio G.,Torella A.,Nigro V.,Testa F.,Simonelli F.,Corton M.,Lualdi S.,Lanza F.,Morana G.,Ayuso C.,Di Rocco M.,Filocamo M.,Banfi S.,Brunetti-Pierri N.,Superti-Furga A.,Rivolta C.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum. Mol. Genet.
29
2250-2260
2020
704122
Chiang P.W.,Wang J.,Chen Y.,Fu Q.,Zhong J.,Chen Y.,Yi X.,Wu R.,Gan H.,Shi Y.,Chen Y.,Barnett C.,Wheaton D.,Day M.,Sutherland J.,Heon E.,Weleber R.G.,Gabriel L.A.,Cong P.,Chuang K.,Ye S.,Sallum J.M.,Qi M.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Nat. Genet.
44
972-974
2012
704123
Perrault I.,Hanein S.,Zanlonghi X.,Serre V.,Nicouleau M.,Defoort-Delhemmes S.,Delphin N.,Fares-Taie L.,Gerber S.,Xerri O.,Edelson C.,Goldenberg A.,Duncombe A.,Le Meur G.,Hamel C.,Silva E.,Nitschke P.,Calvas P.,Munnich A.,Roche O.,Dollfus H.,Kaplan J.,Rozet J.M.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nat. Genet.
44
975-977
2012
704124
Falk M.J.,Zhang Q.,Nakamaru-Ogiso E.,Kannabiran C.,Fonseca-Kelly Z.,Chakarova C.,Audo I.,Mackay D.S.,Zeitz C.,Borman A.D.,Staniszewska M.,Shukla R.,Palavalli L.,Mohand-Said S.,Waseem N.H.,Jalali S.,Perin J.C.,Place E.,Ostrovsky J.,Xiao R.,Bhattacharya S.S.,Consugar M.,Webster A.R.,Sahel J.A.,Moore A.T.,Berson E.L.,Liu Q.,Gai X.,Pierce E.A.
NMNAT1 mutations cause Leber congenital amaurosis.
Nat. Genet.
44
1040-1045
2012
