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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
235
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cone dystrophy Likely pathogenic; Pathogenic rs1271498710 RCV000664187
Cone-rod dystrophy Likely pathogenic; Pathogenic rs150726175, rs751644763 RCV005624712
RCV001199714
Leber congenital amaurosis Likely pathogenic; Pathogenic rs1553128102, rs775978677, rs747653875, rs150726175, rs1641970512 RCV000504848
RCV000504964
RCV000504672
RCV000504859
RCV001199715
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
RCV001972231
RCV001888185
RCV001958992
RCV001965023
RCV001256641
RCV002625004
RCV003007154
RCV003048100
RCV000030768
RCV003527180
RCV003640316
RCV003639347
RCV001372429
RCV000538650
RCV000030763
RCV000030764
RCV000030765
RCV000030766
RCV000030769
RCV000030770
RCV000030771
RCV000787026
RCV001862732
RCV001048869
RCV001256659
RCV001256643
RCV001223249
RCV001248040
RCV001256651
RCV001256639
RCV001256653
RCV001256656
RCV001256642
RCV001256657
RCV001256658
RCV001256660
RCV001256661
RCV001256662
RCV001256644
RCV001256647
RCV001256664
RCV001256665
RCV001256666
RCV001256650
RCV001256646
RCV001256652
RCV001256648
RCV001256663
RCV001381857
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1641792929 -
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs1417208268 RCV004557841
Malignant tumor of esophagus Likely benign rs778701965 RCV005925776
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 32984236
Atrophy Associate 24940029, 29184169, 34837036
Brain Diseases Associate 33668384
Choroideremia Associate 23940504
Color Vision Defects Associate 23940504
Cone Rod Dystrophies Associate 23940504, 29184169
Crohn Disease Associate 29184169
Glioma Associate 36809279
Hearing Loss Sensorineural Associate 33668384
Hereditary macular coloboma Associate 22842230