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NMNAT1 nicotinamide nucleotide adenylyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 64802, updated on 2-Nov-2024

Summary

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Official Symbol
NMNAT1provided by HGNC
Official Full Name
nicotinamide nucleotide adenylyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:17877
See related
Ensembl:ENSG00000173614 MIM:608700; AllianceGenome:HGNC:17877
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCA9; NMNAT; PNAT1; SHILCA
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. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in colon (RPKM 3.7), kidney (RPKM 3.0) and 25 other tissues See more
Orthologs
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Genomic context

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See NMNAT1 in Genome Data Viewer
Location:
1p36.22
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9942923..9996892)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (9485828..9539839)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10002981..10045556)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9911316-9912116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9919701-9920595 Neighboring gene catenin beta interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9931412-9932340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9932341-9933268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 236 Neighboring gene uncharacterized LOC124903838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9943986-9944775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9946851-9947439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9960261-9960762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9970922-9971595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9971596-9972268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9987872-9988381 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:9990871-9991370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:9998882-9999382 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:9999383-9999883 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:10002582-10003781 Neighboring gene leucine zipper and CTNNBIP1 domain containing Neighboring gene RN7SK pseudogene 269 Neighboring gene transmembrane protein 274, pseudogene Neighboring gene microRNA 5697 Neighboring gene Sharpr-MPRA regulatory region 14190 Neighboring gene basic salivary proline-rich protein 2-like Neighboring gene MPRA-validated peak62 silencer Neighboring gene MPRA-validated peak63 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10092788-10093442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 141 Neighboring gene retinol binding protein 7 Neighboring gene ubiquitination factor E4B Neighboring gene ribosomal protein L21 pseudogene 21

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. Kaplan J, et al. Med Sci (Paris), 2013 Jan. PMID 23351689
  2. A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. Kumaran N, et al. Retin Cases Brief Rep, 2021 Mar 1. PMID 30004997
  3. NMNAT1 variants cause cone and cone-rod dystrophy. Nash BM, et al. Eur J Hum Genet, 2018 Mar. PMID 29184169, Free PMC Article
  4. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. Hedergott A, et al. Graefes Arch Clin Exp Ophthalmol, 2015 Dec. PMID 26464178
  5. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Coppieters F, et al. Hum Mutat, 2015 Dec. PMID 26316326, Free PMC Article

See all (115) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage.
    Title: NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage.
  2. Lactate enhances NMNAT1 lactylation to sustain nuclear NAD[+] salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.
    Title: Lactate enhances NMNAT1 lactylation to sustain nuclear NAD(+) salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.
  3. NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
    Title: NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
  4. Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
    Title: Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
  5. Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
    Title: Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
  6. Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
    Title: Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
  7. A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
    Title: A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
  8. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
    Title: An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
  9. Rare homozygous variant c.[271G > A] p.(Glu91Lys) and compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys) were identified in two cases of cone-rod dystrophy, respectively.
    Title: NMNAT1 variants cause cone and cone-rod dystrophy.
  10. Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene.
    Title: Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with NMNAT1 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables nicotinamide-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nicotinamide-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nicotinate-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nicotinate-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein ADP-ribosyltransferase-substrate adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP generation from poly-ADP-D-ribose IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in NAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of apoptotic DNA fragmentation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleotide biosynthetic process IC
Inferred by Curator
more info
 PubMed 
involved_in positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in response to wounding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
Names
NMN adenylyltransferase 1
NMN/NaMN adenylyltransferase 1
NaMN adenylyltransferase 1
nicotinamide mononucleotide adenylyltransferase 1
nicotinate-nucleotide adenylyltransferase 1
pyridine nucleotide adenylyltransferase 1
NP_001284707.1
NP_001284708.1
NP_073624.2
XP_011540273.1
XP_016857596.1
XP_016857597.1
XP_047284032.1
XP_047284033.1
XP_047284036.1
XP_047284038.1
XP_054194283.1
XP_054194284.1
XP_054194285.1
XP_054194286.1
XP_054194287.1
XP_054194288.1
XP_054194289.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032954.2 RefSeqGene

    Range
    5554..47577
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297778.1 → NP_001284707.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_001284707.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL357140, AL603962
    Consensus CDS
    CCDS108.1
    UniProtKB/Swiss-Prot
    B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9
    UniProtKB/TrEMBL
    Q53GL1
    Conserved Domains (1) summary
    cd09286
    Location:9 → 254
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

  2. NM_001297779.2 → NP_001284708.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI247931, AL603962, BP309588, BU948893
    Consensus CDS
    CCDS72698.1
    UniProtKB/TrEMBL
    B1AN62
    Related
    ENSP00000385131.1, ENST00000403197.5
    Conserved Domains (1) summary
    cl00015
    Location:9 → 109
    nt_trans; nucleotidyl transferase superfamily

  3. NM_022787.4 → NP_073624.2  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_073624.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL603962, BP339298
    Consensus CDS
    CCDS108.1
    UniProtKB/Swiss-Prot
    B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9
    UniProtKB/TrEMBL
    Q53GL1
    Related
    ENSP00000366410.1, ENST00000377205.6
    Conserved Domains (1) summary
    cd09286
    Location:9 → 254
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    9942923..9996892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428077.1 → XP_047284033.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B1AN62

  2. XM_017002108.3 → XP_016857597.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X3

  3. XM_017002107.3 → XP_016857596.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9
    UniProtKB/TrEMBL
    Q53GL1
    Conserved Domains (1) summary
    cd09286
    Location:9 → 254
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

  4. XM_011541971.2 → XP_011540273.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X4

    Conserved Domains (1) summary
    cl00015
    Location:9 → 109
    nt_trans; nucleotidyl transferase superfamily

  5. XM_047428082.1 → XP_047284038.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B1AN62

  6. XM_047428076.1 → XP_047284032.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

  7. XM_047428080.1 → XP_047284036.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B1AN62

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    9485828..9539839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338310.1 → XP_054194285.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B1AN62

  2. XM_054338313.1 → XP_054194288.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X3

  3. XM_054338314.1 → XP_054194289.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X4

  4. XM_054338309.1 → XP_054194284.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

  5. XM_054338312.1 → XP_054194287.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B1AN62

  6. XM_054338308.1 → XP_054194283.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

  7. XM_054338311.1 → XP_054194286.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B1AN62
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HAN9.1 GenPept UniProtKB/Swiss-Prot:Q9HAN9

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