Identity
HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
LCA9,NMNAT,PNAT1,SHILCA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64802
MIM: 608700
HGNC: 17877
Ensembl: ENSG00000173614
Variants:
dbSNP: 64802
ClinVar: 64802
TCGA: ENSG00000173614
COSMIC: NMNAT1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38467179 | 2024 | Lactate enhances NMNAT1 lactylation to sustain nuclear NAD(+) salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions. | 1 |
| 38467179 | 2024 | Lactate enhances NMNAT1 lactylation to sustain nuclear NAD(+) salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions. | 1 |
| 36871412 | 2023 | NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants. | 2 |
| 36871412 | 2023 | NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants. | 2 |
| 34837036 | 2022 | Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration. | 2 |
| 34837036 | 2022 | Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration. | 2 |
| 30004997 | 2021 | A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. | 4 |
| 34243968 | 2021 | Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis. | 1 |
| 34290089 | 2021 | Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells. | 11 |
| 30004997 | 2021 | A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. | 4 |
| 34243968 | 2021 | Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis. | 1 |
| 34290089 | 2021 | Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells. | 11 |
| 32533184 | 2020 | An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. | 9 |
| 32533184 | 2020 | An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. | 9 |
| 28369829 | 2018 | Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. | 7 |
Citation
Dessen P
NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-12-01
Online version: http://atlasgeneticsoncology.org/gene/53628/nmnat1-(nicotinamide-nucleotide-adenylyltransferase-1)
