GenTIGS

Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) Associated conditions: 1. Leber congenital amaurosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001297778.1	NP_001284707.1	NC_000001.11	(9942922..9996891)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001297779.2	NP_001284708.1	NC_000001.11	(9942922..9996891)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_022787.4	NP_073624.2	NC_000001.11	(9942922..9996891)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1117 reference articles

Variant Information Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IBA	enables	nicotinamide-nucleotide adenylyltransferase activity	Function	-
3	Homo sapiens	IDA	enables	nicotinamide-nucleotide adenylyltransferase activity	Function	11027696 16118205
4	Homo sapiens	IEA	enables	nicotinamide-nucleotide adenylyltransferase activity	Function	-
5	Homo sapiens	IEA	is_active_in	chromatin	Component	-
6	Homo sapiens	IEA	enables	catalytic activity	Function	-
7	Homo sapiens	IBA	enables	nicotinate-nucleotide adenylyltransferase activity	Function	-
8	Homo sapiens	IDA	enables	nicotinate-nucleotide adenylyltransferase activity	Function	16118205
9	Homo sapiens	IEA	enables	nicotinate-nucleotide adenylyltransferase activity	Function	-
10	Homo sapiens	IPI	enables	protein binding	Function	11248244 19478080 24722188 25416956 26871637 27107014 28514442 31515488 32296183 33961781
11	Homo sapiens	IEA	enables	ATP binding	Function	-
12	Homo sapiens	HDA	located_in	nucleus	Component	21630459
13	Homo sapiens	IBA	is_active_in	nucleus	Component	-
14	Homo sapiens	IDA	located_in	nucleus	Component	11248244 16118205
15	Homo sapiens	IEA	located_in	nucleus	Component	-
16	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
17	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
18	Homo sapiens	IEA	involved_in	purine nucleotide metabolic process	Process	-
19	Homo sapiens	IC	involved_in	nucleotide biosynthetic process	Process	16118205
20	Homo sapiens	IEA	involved_in	nucleotide biosynthetic process	Process	-
21	Homo sapiens	IEA	involved_in	NAD+ biosynthetic process	Process	-
22	Homo sapiens	IDA	located_in	nuclear body	Component	-
23	Homo sapiens	IEA	enables	transferase activity	Function	-
24	Homo sapiens	IEA	enables	nucleotidyltransferase activity	Function	-
25	Homo sapiens	IEA	involved_in	pyridine nucleotide biosynthetic process	Process	-
26	Homo sapiens	IBA	involved_in	NAD+ biosynthetic process via the salvage pathway	Process	-
27	Homo sapiens	IEA	involved_in	NAD+ biosynthetic process via the salvage pathway	Process	-
28	Homo sapiens	IPI	enables	identical protein binding	Function	21516116 25416956 25502805 31515488 32296183
29	Homo sapiens	IEA	involved_in	negative regulation of DNA-templated transcription	Process	-
30	Homo sapiens	ISS	involved_in	negative regulation of DNA-templated transcription	Process	-
31	Homo sapiens	IEA	enables	protein ADP-ribosyltransferase-substrate adaptor activity	Function	-
32	Homo sapiens	ISS	enables	protein ADP-ribosyltransferase-substrate adaptor activity	Function	-
33	Homo sapiens	IDA	involved_in	ATP generation from poly-ADP-D-ribose	Process	27257257