NMNAT1
entrez
64802
canonical
uniprot
Q9HAN9
canonical
ensembl
ENSG00000173614
resolver
ensp
ENSP00000366410
resolver
ensp
ENSP00000385131
resolver
ensp
ENSP00000435134
resolver
ensp
ENSP00000557559
resolver
ensp
ENSP00000617021
resolver
ensp
ENSP00000617023
resolver
ensp
ENSP00000617024
resolver
ensp
ENSP00000790276
resolver
enst
ENST00000377205
resolver
enst
ENST00000403197
resolver
enst
ENST00000462686
resolver
enst
ENST00000887500
resolver
enst
ENST00000946962
resolver
enst
ENST00000946964
resolver
enst
ENST00000946965
resolver
genesymbol
NMNAT1
resolver
genesymbol_syn
NMNAT
resolver
hgnc
HGNC:17877
resolver
uniprot
B1AN62
resolver
uniprot
B1AN63
resolver
uniprot
Q8TAE9
resolver
uniprot
Q9H247
resolver
uniprot
Q9H6B6
resolver
uniprot_entry
B1AN62_HUMAN
resolver
uniprot_entry
NMNA1_HUMAN
resolver
uniprot_sec
B1AN63
resolver
uniprot_sec
Q8TAE9
resolver
uniprot_sec
Q9H247
resolver
uniprot_sec
Q9H6B6
resolver
activity_regulation
ACTIVITY REGULATION: Activity is strongly inhibited by galotannin. Inhibited by P1-(adenosine-5')-P4-(nicotinic-acid-riboside-5')-tetraphosphate (Nap4AD). {ECO:0000269|PubMed:17402747}.
uniprot
proteins
amino_acid_sequence
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 9 (LCA9) [MIM: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. {ECO:0000269|PubMed:22842227, ECO:0000269|PubMed:22842229, ECO:0000269|PubMed:22842230, ECO:0000269|PubMed:22842231}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA) [MIM:619260]: An autosomal recessive disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature due to spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain imaging shows abnormalities including delayed myelination, leukoencephalopathy, and cerebellar hypoplasia. {ECO:0000269|PubMed:32533184}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.1
uniprot
proteins
ec_number
2.7.7.18
uniprot
proteins
function
FUNCTION: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:17402747). 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 (PubMed:17402747). Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Also acts as a cofactor for glutamate and aspartate ADP-ribosylation by directing PARP1 catalytic activity to glutamate and aspartate residues on histones (By similarity). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:17402747). Protects against axonal degeneration following mechanical or toxic insults (By similarity). Neural protection does not correlate with cellular NAD(+) levels but may still require enzyme activity (By similarity). {ECO:0000250|UniProtKB:Q9EPA7, ECO:0000269|PubMed:17402747, ECO:0000269|PubMed:27257257}.
uniprot
proteins
mass_dalton
31932
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1. {ECO:0000305|PubMed:17402747}.; PATHWAY: Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1. {ECO:0000305|PubMed:17402747}.
uniprot
proteins
protein_family
Eukaryotic NMN adenylyltransferase family
uniprot
proteins
pubmed
11027696
uniprot
proteins
pubmed
11248244
uniprot
proteins
pubmed
11751893
uniprot
proteins
pubmed
11788603
uniprot
proteins
pubmed
11891043
uniprot
proteins
pubmed
11959140
uniprot
proteins
pubmed
12574164
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16118205
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17402747
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
22842227
uniprot
proteins
pubmed
22842229
uniprot
proteins
pubmed
22842230
uniprot
proteins
pubmed
22842231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27257257
uniprot
proteins
pubmed
32533184
uniprot
proteins
sequence_length
279
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11248244, ECO:0000269|PubMed:12574164, ECO:0000269|PubMed:16118205, ECO:0000269|PubMed:22842230}.
uniprot
proteins