InnateDB Protein
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IDBP-598014.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NMNAT1
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Protein Name
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nicotinamide nucleotide adenylyltransferase 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000435134
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InnateDB Gene
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IDBG-88778 (NMNAT1)
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Protein Structure
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Function |
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. {ECO:0000269PubMed:17402747}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:11248244, ECO:0000269PubMed:12574164, ECO:0000269PubMed:16118205, ECO:0000269PubMed:22842230}.
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Disease Associations |
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:0000269PubMed:22842227, ECO:0000269PubMed:22842229, ECO:0000269PubMed:22842230, ECO:0000269PubMed:22842231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain. {ECO:0000269PubMed:11027696, ECO:0000269PubMed:11891043}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004821
Cytidyltransferase-like domain
IPR005248
Probable nicotinate-nucleotide adenylyltransferase
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PFAM |
PF01467
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9HAN9
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PhosphoSite |
PhosphoSite-Q9HAN9
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TrEMBL |
A0A024R4E1
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UniProt Splice Variant |
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Entrez Gene |
64802
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UniGene |
Hs.633762
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RefSeq |
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HUGO |
HGNC:17877
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OMIM |
608700
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CCDS |
CCDS108
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HPRD |
16369
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IMGT |
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EMBL |
AF312734
AF314163
AF459819
AF459820
AF459821
AF459822
AF459823
AK026065
AK315640
AL357140
AL603962
BC014943
CH471130
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GenPept |
AAG33629
AAG33632
AAH14943
AAL76934
AAL76935
BAB15345
BAG38007
CAI16813
CAI16889
EAW71635
EAW71636
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