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MGP005793

Record overview

MGPD IDMGP005793
Gene ID64802
SpeciesHomo sapiens (Human)
Gene Namenicotinamide nucleotide adenylyltransferase 1
Gene Symbol NMNAT1
SynonymsLCA9; NMNAT; PNAT1;
Alternate namesnicotinamide mononucleotide adenylyltransferase 1; NMN adenylyltransferase 1; NaMN adenylyltransferase 1; nicotinate-nucleotide adenylyltransferase 1; pyridine nucleotide adenylyltransferase 1;
Chromosome1
Map Location1p36.22
EC Number2.7.7.1
SummaryThis gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
OrthologsView orthologs and multiple alignments for NMNAT1

Proteins

nicotinamide mononucleotide adenylyltransferase 1 isoform 1
Refseq ID:NP_073624
Protein GI:20070321
UniProt ID:Q9HAN9
mRNA ID:NM_022787
Length:279
RefSeq Status:
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLR
HHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYES
DVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT
 
nicotinamide mononucleotide adenylyltransferase 1 isoform 1
Refseq ID:NP_001284707
Protein GI:663071195
UniProt ID:Q9HAN9
mRNA ID:NM_001297778
Length:279
RefSeq Status:
Protein sequence is identical to GI:20070321 (mRNA isoform)
 
nicotinamide mononucleotide adenylyltransferase 1 isoform 2
Refseq ID:NP_001284708
Protein GI:663071197
UniProt ID:B1AN62
mRNA ID:NM_001297779
Length:160
RefSeq Status:
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLR
HHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
 
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