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Genes
NMNAT1
Gene - NMNAT1
full name
nicotinamide nucleotide adenylyltransferase 1
synonyms
LCA9, NMNAT, PNAT1, NMNAT1, ENSG00000173614
HGNC
HGNC:17877
Entrez Gene
Gene:64802
ENSEMBL
ENSG00000173614
location
chr: 1
start: 10003486
stop: 10045556
strand: +
OMIM
OMIM:608700
: NMNAT1
(Autosomal recessive inheritance)
OMIM:608553
: Leber congenital amaurosis 9
transcripts
NM_022787.3
pathways
Metabolic pathways
[NCBI:132956]
[KEGG:hsa01100]
Metabolism
[NCBI:1269956]
[REACTOME:R-HSA-1430728]
Metabolism of vitamins and cofactors
[NCBI:1270144]
[REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors
[NCBI:1270145]
[REACTOME:R-HSA-196849]
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
[NCBI:142217]
[BIOCYC:HUMAN_PWY-5653]
NAD de novo biosynthesis
[NCBI:142215]
[BIOCYC:HUMAN_NADSYN-PWY]
[PUBMED:6997723]
[PUBMED:12006491]
[PUBMED:19416965]
[PUBMED:12648681]
NAD salvage
[NCBI:142214]
[BIOCYC:HUMAN_NAD-BIOSYNTHESIS-III]
[PUBMED:12648681]
[PUBMED:16118205]
[PUBMED:12006491]
[PUBMED:16783377]
[PUBMED:19416965]
Nicotinate and nicotinamide metabolism
[NCBI:83014]
[KEGG:hsa00760]
[PUBMED:16894175]
[PUBMED:11514508]
[PUBMED:5835946]
[PUBMED:16321959]
[PUBMED:13475371]
[PUBMED:21953451]
Nicotinate metabolism
[NCBI:1270154]
[REACTOME:R-HSA-196807]
[PUBMED:14704851]
superpathway of tryptophan utilization
[NCBI:835392]
[BIOCYC:HUMAN_PWY66-401]