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

Gene ID: 64802, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000001799
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
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

Genomic context

See NMNAT1 in Genome Data Viewer
Location:
1p36.22
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (9942923..9996884)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10003486..10045556)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene calsyntenin 1 Neighboring gene mitotic spindle organizing protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105376717 Neighboring gene catenin beta interacting protein 1 Neighboring gene RNA, 7SK small nuclear pseudogene 269 Neighboring gene leucine zipper and CTNNBIP1 domain containing Neighboring gene microRNA 5697 Neighboring gene retinol binding protein 7 Neighboring gene ubiquitination factor E4B Neighboring gene ribosomal protein L21 pseudogene 21

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • NAD Biosynthesis II (from tryptophan), organism-specific biosystem (from WikiPathways)
    NAD Biosynthesis II (from tryptophan), organism-specific biosystemAs a general rule, most prokaryotes utilize the aspartate de novo pathway, in which the nicotinate moiety of NAD is synthesized from aspartate (see NAD biosynthesis I (from aspartate)). In eukaryotes...
  • NAD biosynthesis II (from tryptophan), conserved biosystem (from BIOCYC)
    NAD biosynthesis II (from tryptophan), conserved biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotide phosphate (NADP) are two of the most important coenzymes in redox reac...
  • NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, organism-specific biosystem (from BIOCYC)
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, organism-specific biosystemThis is the later portion of the pathway used for de novo biosynthesis of NAD, which starts with the amino acid :TRP. For the full pathway and more information, please see :NADSYN-PWY.
  • NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, conserved biosystem (from BIOCYC)
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, conserved biosystemThis is the later portion of the pathway used in eukaryotes for de novo biosynthesis of NAD, which starts with the amino acid |FRAME:TRP|. For the full pathway and more information, please see |FRAME...
  • NAD de novo biosynthesis, organism-specific biosystem (from BIOCYC)
    NAD de novo biosynthesis, organism-specific biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotidephosphate (NADP) are two of the most important coenzymes in redox react...
  • NAD salvage, organism-specific biosystem (from BIOCYC)
    NAD salvage, organism-specific biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotidephosphate (NADP) are two of the most important coenzymes in redox react...
  • NAD salvage pathway III, conserved biosystem (from BIOCYC)
    NAD salvage pathway III, conserved biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotide phosphate (NADP) are two of the most important coenzymes in redox reac...
  • NAD+ biosynthetic pathways, organism-specific biosystem (from WikiPathways)
    NAD+ biosynthetic pathways, organism-specific biosystemNAD+ biosynthetic pathways. NAD+ levels are maintained by three independent pathways. First, the Preiss-Handler pathway uses dietary nicotinic acid and the enzyme nicotinic acid phosphoribosyltransfe...
  • NAD+ metabolism, organism-specific biosystem (from WikiPathways)
    NAD+ metabolism, organism-specific biosystemNAD+ metabolism in different cellular compartments. The different precursors to intracellular NAD metabolism - tryptophan, nicotinic acid (NA), nicotinamide, NR, and NMN - are shown, along with their...
  • Nicotinate and nicotinamide metabolism, organism-specific biosystem (from KEGG)
    Nicotinate and nicotinamide metabolism, organism-specific biosystem
    Nicotinate and nicotinamide metabolism
  • Nicotinate and nicotinamide metabolism, conserved biosystem (from KEGG)
    Nicotinate and nicotinamide metabolism, conserved biosystem
    Nicotinate and nicotinamide metabolism
  • Nicotinate metabolism, organism-specific biosystem (from REACTOME)
    Nicotinate metabolism, organism-specific biosystemNicotinate (niacin) and nicotinamide are precursors of the coenzymes nicotinamide-adenine dinucleotide (NAD+) and nicotinamide-adenine dinucleotide phosphate (NADP+). When NAD+ and NADP+ are intercha...
  • superpathway of tryptophan utilization, organism-specific biosystem (from BIOCYC)
    superpathway of tryptophan utilization, organism-specific biosystem
    superpathway of tryptophan utilization

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nicotinamide-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nicotinamide-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
nicotinate-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nicotinate-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
nicotinate-nucleotide adenylyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
'de novo' NAD biosynthetic process from aspartate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP generation from poly-ADP-D-ribose IDA
Inferred from Direct Assay
more info
PubMed 
NAD biosynthetic process IC
Inferred by Curator
more info
PubMed 
NAD metabolic process TAS
Traceable Author Statement
more info
 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_032954.1 RefSeqGene

    Range
    5001..47071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297778.1NP_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
    Q9HAN9
    UniProtKB/TrEMBL
    A0A024R4E1
    Conserved Domains (1) summary
    cd09286
    Location:9254
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  2. NM_001297779.1NP_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, BG751629, BP309588, BU948893
    Consensus CDS
    CCDS72698.1
    UniProtKB/TrEMBL
    B1AN62
    Related
    ENSP00000385131.1, OTTHUMP00000001732, ENST00000403197.5, OTTHUMT00000005030
    Conserved Domains (1) summary
    cl00015
    Location:9109
    nt_trans; nucleotidyl transferase superfamily
  3. NM_022787.3NP_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, BG751629, BP339298
    Consensus CDS
    CCDS108.1
    UniProtKB/Swiss-Prot
    Q9HAN9
    UniProtKB/TrEMBL
    A0A024R4E1
    Related
    ENSP00000366410.1, OTTHUMP00000001731, ENST00000377205.5, OTTHUMT00000005029
    Conserved Domains (1) summary
    cd09286
    Location:9254
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    9942923..9996884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002108.2XP_016857597.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

  2. XM_011541971.2XP_011540273.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X3

    Conserved Domains (1) summary
    cl00015
    Location:9109
    nt_trans; nucleotidyl transferase superfamily
  3. XM_017002107.2XP_016857596.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HAN9
    UniProtKB/TrEMBL
    A0A024R4E1
    Conserved Domains (1) summary
    cd09286
    Location:9254
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
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