Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64802
Gene name Gene Name - the full gene name approved by the HGNC.
Nicotinamide nucleotide adenylyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NMNAT1
Synonyms (NCBI Gene) Gene synonyms aliases
LCA9, NMNAT, PNAT1, SHILCA
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608700 17877 ENSG00000173614
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cone Dystrophy cone dystrophy rs1271498710 N/A
Leber Congenital Amaurosis Leber congenital amaurosis 9, leber congenital amaurosis rs387907293, rs778606847, rs771336246, rs387907294, rs372066126, rs1413885352, rs387907290, rs1641970512, rs142968179, rs748902766, rs371526758, rs150726175, rs1553128102, rs751644763, rs775978677
View all (5 more)
N/A
retinal dystrophy Retinal dystrophy rs778606847, rs387907294, rs748902766, rs751644763, rs142968179, rs150726175, rs375110174, rs1641704371, rs771336246 N/A
cone-rod dystrophy Cone-rod dystrophy rs751644763 N/A
Associations from Text Mining Disease 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