Gene Gene information from NCBI Gene database.
Entrez ID 64802
Gene name Nicotinamide nucleotide adenylyltransferase 1
Gene symbol NMNAT1
Synonyms (NCBI Gene)
LCA9NMNATPNAT1SHILCA
Chromosome 1
Chromosome location 1p36.22
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. Ac
SNPs SNP information provided by dbSNP.
17
SNP ID Visualize variation Clinical significance Consequence
rs142968179 C>T Pathogenic Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs150726175 G>A Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic Intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs368062092 G>A,T Pathogenic, uncertain-significance Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs371526758 G>A Pathogenic Intron variant, coding sequence variant, stop gained, genic downstream transcript variant
rs372066126 A>G,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
722
miRTarBase ID miRNA Experiments Reference
MIRT022393 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT709733 hsa-miR-590-3p HITS-CLIP 19536157
MIRT709732 hsa-miR-8485 HITS-CLIP 19536157
MIRT709731 hsa-miR-4735-5p HITS-CLIP 19536157
MIRT709730 hsa-miR-1227-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000309 Function Nicotinamide-nucleotide adenylyltransferase activity IBA
GO:0000309 Function Nicotinamide-nucleotide adenylyltransferase activity IDA 11027696
GO:0000309 Function Nicotinamide-nucleotide adenylyltransferase activity IEA
GO:0000785 Component Chromatin IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608700 17877 ENSG00000173614
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAN9
Protein name Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (NMN/NaMN adenylyltransferase 1) (EC 2.7.7.1) (EC 2.7.7.18) (Nicotinamide-nucleotide adenylyltransferase 1) (NMN adenylyltransferase 1) (Nicotinate-nucleotide adenylyltransferase 1) (NaMN ad
Protein function Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofur
PDB 1GZU , 1KKU , 1KQN , 1KQO , 1KR2 , 8QE8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01467 CTP_transf_like 12 229 Cytidylyltransferase-like Domain
Tissue specificity 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:0000269|PubMed:11027696, ECO:0000269|PubMed:11891043}.
Sequence
Sequence length 279
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
Biosynthesis of cofactors
  Nicotinate metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cone dystrophy Likely pathogenic; Pathogenic rs1271498710 RCV000664187
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy Likely pathogenic; Pathogenic rs150726175, rs751644763 RCV005624712
RCV001199714
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis Likely pathogenic; Pathogenic rs1553128102, rs775978677, rs747653875, rs150726175, rs1641970512 RCV000504848
RCV000504964
RCV000504672
RCV000504859
RCV001199715
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 9 Likely pathogenic; Pathogenic rs1405020783, rs986437232, rs2101713372, rs779434083, rs763438353, rs1204470176, rs1641702737, rs2101701634, rs1641966566, rs748902766, rs1017147686, rs1025005830, rs371526758, rs2522304453, rs768346864
View all (36 more)
RCV001372427
RCV001372430
RCV001919087
RCV002003843
RCV001921450
View all (49 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMAUROSIS CONGENITA OF LEBER, TYPE 9 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES, TRAUMATIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration CTD_human_DG 22842229
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32984236 Associate
★☆☆☆☆
Found in Text Mining only
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 16082399, 22842227, 22842230, 22842231, 24940029, 26316326, 26464178, 28453600, 29184169, 30166529
★☆☆☆☆
Found in Text Mining only
Atrophoderma maculatum Anetoderma BEFREE 24830548
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 24940029, 29184169, 34837036 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 33668384 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 31421130
★☆☆☆☆
Found in Text Mining only
Choroideremia Choroideremia Pubtator 23940504 Associate
★☆☆☆☆
Found in Text Mining only
Color Vision Defects Color vision deficiency Pubtator 23940504 Associate
★☆☆☆☆
Found in Text Mining only