Summary

Gene Name	NMNAT1
Specie	Homo sapiens
Full Name	nicotinamide nucleotide adenylyltransferase 1
Also known as	LCA9|NMNAT|PNAT1|SHILCA
Coordinate	chr1:9942923-9996884
Strand	+
Gene summary	This 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]

Retrocopy(s) from NMNAT1

Retroname	Coord	Strand	Genomic Region	ENSG
NMNAT1P1	chr14:81032463-81033536	+	Intragenic	ENSG00000259167	UCSC
NMNAT1P5	chr15:59964885-59966210	+	Intergenic	ENSG00000259573	UCSC
NMNAT1P3	chr3:190166711-190167760	+	Intergenic	ENSG00000238077	UCSC
NMNAT1P4	chr4:145455948-145456967	+	Intergenic	ENSG00000248745	UCSC
NMNAT1P2	chr1:164342951-164347113	+	Intergenic	ENSG00000225719	UCSC

Expression

Transcript Sequences

>NM_001297778.1

CCTTTCTGAGTTTCTTCCTAGCGAGGCCGAGAGGGTCTTTGAGGAAAATCCCGCATCCGGACACGCCTTGAGGGATGGCGTCAAACCCAGAGGCTTGGAAAAGACAACAAGGGAGGTGTCACAGTTTTCCATTTAGATCAACAACTTCAAGTTCTTACCATGGAAAATTCCGAGAAGACTGAAGTGGTTCTCCTTGCTTGTGGTTCATTCAATCCCATCACCAACATGCACCTCAGGTTGTTTGAGCTGGCCAAGGACTACATGAATGGAACAGGAAGGTACACAGTTGTCAAAGGCATCATCTCTCCTGTTGGTGATGCCTACAAGAAGAAAGGACTCATTCCTGCCTATCACCGGGTCATCATGGCAGAACTTGCTACCAAGAATTCTAAATGGGTGGAAGTTGATACATGGGAAAGTCTTCAGAAGGAGTGGAAAGAGACTCTGAAGGTGCTAAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTctgggcacagtggctcacgcctgtaatcccagcactttgggaggctgaggcaggtggatcacggggtcaagagatcgagaccatcctggccaatatggtgaaaccccatctctactaaaaatacaaaaattagctgtgtgtggtggcacgtgcctgtagtcccagctacttgggaggctgaggcaggagaatcacttgaccccaggtggtggaggttgcagtgagccaagattgcaccattgcactccagcctggcgacagagcaagactctgtctcaaaaaaaaaaaaaaaTTTAGTAAAAATCAATGGTAAGCTAAAATAAGTTTTTGTTTGTTTATTTGTTTTTGAGATGGAgtctctactaaaaatacaaaaaattagccaggcatggtgccgcataactataatcccagctacttgggaggctgaggcaggagaatcgcttgaacccgggaggcacaggttccagtgagccaaggttgtgccactgcactccagcctgggcaaaaaagcaaaactccatctcaaagagaaaaaaaaaaaagaccgggtgtggtggctcacacctgtaatcccagcactttgggaggcctaagtgggtggatcacgtgaggtcaagagttcaagaccagcctggccaatatggtgaaaccccatctctactaagaatacaaaaaattagctgagcatggtggtgggctcctgtagtcccagctacttgggaggctgaggcaggagaatcgcttgaacctgggaggcagaggttgcagtaagccaagatcgtgccattgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaaGCCTGACAGCTAGCAGGTTTCAGGATCCATCTGCCAAGTTAGTGAAAGGCTGGAGCCTCAAATCATACAGATGAGGGTCATTTTCTCCTCCTTAGCTTCTTGGAGTTTAAGAGTTGAAGGAGTCCTGAAAAGTAATGATAGAGCAAGATGAAGCTATCAGAACTGAATTTGGACTTCCTCTGGGAAACTACACCTAGTTCATCTGAAGTGTCACGTAAACTGCAGAAAGTTTCCAATGCTGGAAACTTCTCTCATACTATCGTGCCTTCCTACTCAGAAGTGCCTGTGCCCTGCTCAGCTGTGACTACTGACCTCAGGACCTCACTGGACAAGGCATGTGGGGACCCTTGCAGGAGCCCTGGTAAGGGTACAATGATCCTAttgttttttgtttttgagatggagtctcactctgtctcccaggctggagtgcagtggtgcgatctccgctcactgcaacctccgcctcccgggttcaagcaattctcctgcctcagcctgctgagtagctgggattacaggcacccactaccatgtccggctaattttgtatttttagtagagatggggtttcgccatgttagacaggctggtcttgaactcctgacctcaggtgatctgcccacctcggccttccaaagtgctgggattacaggcatgagccactgcacccagccTGATCCTATTGTTGCACTATTTATGGAGCAACAACTTTGTACAAAGAACAAGCTTTGTACAGAGAACAAGCTTGGCTTTTTCTCCCAACGCCGAGGATGCTGTTGATGCTGCCACGTAATAGCATAATTTTGGGTGTCCTCAAGGACAGAACTTCCACTTTGAATAATGGAAGTTAGAACAATGAATTTCACAGGGGAATAAATATTAATGACTGACGTGAAGAAAATATGCCATTGTTTATTCCCTCCTGCATCATTTCCATAATTTGCTTTTGTACTGTCAATTTAGAGGAAATGTGTGATGCTGGTGTTTTGTTTGGCCTGTTTGTTTGATGCTGGGGGTTTTATGTGTTGTACCCTTTACCCCTTACATTGTGTAATTTGAAAGTGGCAAACAAACCTGCAGTAAAAGTCCTTGATTGGCATCTTCATTCGGATGATGGAGAGCCTTTGTGGTAGTGTTTGCTTATGTGAACAGCAGGCCTTTCAGATAAGAGAAGTGGCTTTTCCTTGGTGATGAAGGGGTAGAGATTGAGCCATGGGGATGGTTTAGGTTAAAGAATGCTTTTTTTTGGCCATCATGAGGATCTAACAACAGAGTAGAAGGAAGGATGCCCTAGGTCAGCATGCAGGGTGGTGGGAGGGCTTTCATCTTCCTTACCCAAGCCTCTCTTTTCACTTTTCTAGAAGTCCAGAAGTTGTTATATGATGAAATAGCCTCCTTTAACGTTTATTTCTGGGTGCCAACGGAGGCCCATTCCTCTAACATTCTCATAATTTTTCTCAAAGGCCTATGATCTAAACATTTCACCACGGCATCCACTCAGCTGTGAGGCTGCGTACACAGTCTCCACCTCTGAAATCTGAACTTCGTTTACCAGTGGTGCTGTTTGAACTTCataatgtcagcacttcctgaacacttactgtgtgcttggcttgtgctcctgagtgccttatatCATAAGGAAACGGCAAAATCAGGGGACTGGTAtaaatggtgagctgagcttgaatctaagctttgtcttcagagccagtacccctaatctctCTTTCTGTAAAATATTACTTTTCAAAGAATGAAGTTGTAGCCAAATCTTGAAATTTTTCATTTACCCTAAGTGAGGACAAATAAAGCTTTCAACAACA

>NM_022787.4

GATCTCCGGTAGCACTCGGGCCGGCGGACAGTGAGGGCGCGACAACAAGGGAGGTGTCACAGTTTTCCATTTAGATCAACAACTTCAAGTTCTTACCATGGAAAATTCCGAGAAGACTGAAGTGGTTCTCCTTGCTTGTGGTTCATTCAATCCCATCACCAACATGCACCTCAGGTTGTTTGAGCTGGCCAAGGACTACATGAATGGAACAGGAAGGTACACAGTTGTCAAAGGCATCATCTCTCCTGTTGGTGATGCCTACAAGAAGAAAGGACTCATTCCTGCCTATCACCGGGTCATCATGGCAGAACTTGCTACCAAGAATTCTAAATGGGTGGAAGTTGATACATGGGAAAGTCTTCAGAAGGAGTGGAAAGAGACTCTGAAGGTGCTAAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTctgggcacagtggctcacgcctgtaatcccagcactttgggaggctgaggcaggtggatcacggggtcaagagatcgagaccatcctggccaatatggtgaaaccccatctctactaaaaatacaaaaattagctgtgtgtggtggcacgtgcctgtagtcccagctacttgggaggctgaggcaggagaatcacttgaccccaggtggtggaggttgcagtgagccaagattgcaccattgcactccagcctggcgacagagcaagactctgtctcaaaaaaaaaaaaaaaTTTAGTAAAAATCAATGGTAAGCTAAAATAAGTTTTTGTTTGTTTATTTGTTTTTGAGATGGAgtctctactaaaaatacaaaaaattagccaggcatggtgccgcataactataatcccagctacttgggaggctgaggcaggagaatcgcttgaacccgggaggcacaggttccagtgagccaaggttgtgccactgcactccagcctgggcaaaaaagcaaaactccatctcaaagagaaaaaaaaaaaagaccgggtgtggtggctcacacctgtaatcccagcactttgggaggcctaagtgggtggatcacgtgaggtcaagagttcaagaccagcctggccaatatggtgaaaccccatctctactaagaatacaaaaaattagctgagcatggtggtgggctcctgtagtcccagctacttgggaggctgaggcaggagaatcgcttgaacctgggaggcagaggttgcagtaagccaagatcgtgccattgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaaGCCTGACAGCTAGCAGGTTTCAGGATCCATCTGCCAAGTTAGTGAAAGGCTGGAGCCTCAAATCATACAGATGAGGGTCATTTTCTCCTCCTTAGCTTCTTGGAGTTTAAGAGTTGAAGGAGTCCTGAAAAGTAATGATAGAGCAAGATGAAGCTATCAGAACTGAATTTGGACTTCCTCTGGGAAACTACACCTAGTTCATCTGAAGTGTCACGTAAACTGCAGAAAGTTTCCAATGCTGGAAACTTCTCTCATACTATCGTGCCTTCCTACTCAGAAGTGCCTGTGCCCTGCTCAGCTGTGACTACTGACCTCAGGACCTCACTGGACAAGGCATGTGGGGACCCTTGCAGGAGCCCTGGTAAGGGTACAATGATCCTAttgttttttgtttttgagatggagtctcactctgtctcccaggctggagtgcagtggtgcgatctccgctcactgcaacctccgcctcccgggttcaagcaattctcctgcctcagcctgctgagtagctgggattacaggcacccactaccatgtccggctaattttgtatttttagtagagatggggtttcgccatgttagacaggctggtcttgaactcctgacctcaggtgatctgcccacctcggccttccaaagtgctgggattacaggcatgagccactgcacccagccTGATCCTATTGTTGCACTATTTATGGAGCAACAACTTTGTACAAAGAACAAGCTTTGTACAGAGAACAAGCTTGGCTTTTTCTCCCAACGCCGAGGATGCTGTTGATGCTGCCACGTAATAGCATAATTTTGGGTGTCCTCAAGGACAGAACTTCCACTTTGAATAATGGAAGTTAGAACAATGAATTTCACAGGGGAATAAATATTAATGACTGACGTGAAGAAAATATGCCATTGTTTATTCCCTCCTGCATCATTTCCATAATTTGCTTTTGTACTGTCAATTTAGAGGAAATGTGTGATGCTGGTGTTTTGTTTGGCCTGTTTGTTTGATGCTGGGGGTTTTATGTGTTGTACCCTTTACCCCTTACATTGTGTAATTTGAAAGTGGCAAACAAACCTGCAGTAAAAGTCCTTGATTGGCATCTTCATTCGGATGATGGAGAGCCTTTGTGGTAGTGTTTGCTTATGTGAACAGCAGGCCTTTCAGATAAGAGAAGTGGCTTTTCCTTGGTGATGAAGGGGTAGAGATTGAGCCATGGGGATGGTTTAGGTTAAAGAATGCTTTTTTTTGGCCATCATGAGGATCTAACAACAGAGTAGAAGGAAGGATGCCCTAGGTCAGCATGCAGGGTGGTGGGAGGGCTTTCATCTTCCTTACCCAAGCCTCTCTTTTCACTTTTCTAGAAGTCCAGAAGTTGTTATATGATGAAATAGCCTCCTTTAACGTTTATTTCTGGGTGCCAACGGAGGCCCATTCCTCTAACATTCTCATAATTTTTCTCAAAGGCCTATGATCTAAACATTTCACCACGGCATCCACTCAGCTGTGAGGCTGCGTACACAGTCTCCACCTCTGAAATCTGAACTTCGTTTACCAGTGGTGCTGTTTGAACTTCataatgtcagcacttcctgaacacttactgtgtgcttggcttgtgctcctgagtgccttatatCATAAGGAAACGGCAAAATCAGGGGACTGGTAtaaatggtgagctgagcttgaatctaagctttgtcttcagagccagtacccctaatctctCTTTCTGTAAAATATTACTTTTCAAAGAATGAAGTTGTAGCCAAATCTTGAAATTTTTCATTTACCCTAAGTGAGGACAAATAAAGCTTTCAACAACA

>XM_011541971.2

GATCTCCGGTAGCACTCGGGCCGGCGGACAGTGAGGGCGCGACAACAAGGGAGGTGTCACAGTTTTCCATTTAGATCAACAACTTCAAGTTCTTACCATGGAAAATTCCGAGAAGACTGAAGTGGTTCTCCTTGCTTGTGGTTCATTCAATCCCATCACCAACATGCACCTCAGGTTGTTTGAGCTGGCCAAGGACTACATGAATGGAACAGGAAGGTACACAGTTGTCAAAGGCATCATCTCTCCTGTTGGTGATGCCTACAAGAAGAAAGGACTCATTCCTGCCTATCACCGGGTCATCATGGCAGAACTTGCTACCAAGAATTCTAAATGGGTGGAAGTTGATACATGGGAAAGTCTTCAGAAGGAGTGGAAAGAGACTCTGAAGGTGCTAAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGGCCTATGATCTAAACATTTCACCACGGCATCCACTCAGCTGTGAGGCTGCGTACACAGTCTCCACCTCTGAAATCTGAACTTCGTTTACCAGTGGTGCTGTTTGAACTTCataatgtcagcacttcctgaacacttactgtgtgcttggcttgtgctcctgagtgccttatatCATAAGGAAACGGCAAAATCAGGGGACTGGTAtaaatggtgagctgagcttgaatctaagctttgtcttcagagccagtacccctaatctctCTTTCTGTAAAATATTACTTTTCAAAGAATGAAGTTGTAGCCAAATCTTGAAATTTTTCATTTACCCTAAGTGAGGACAAATAAAGCTTTCAACAACA