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NMNAT3 nicotinamide nucleotide adenylyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 349565, updated on 3-Apr-2024

Summary

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Official Symbol
NMNAT3provided by HGNC
Official Full Name
nicotinamide nucleotide adenylyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:20989
See related
Ensembl:ENSG00000163864 MIM:608702; AllianceGenome:HGNC:20989
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
PNAT3; FKSG76; PNAT-3
Summary
This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Expression
Broad expression in ovary (RPKM 2.3), testis (RPKM 2.2) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
3q23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139560180..139678050, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (142307606..142425486, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139279022..139396892, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene COPB2 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 7279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:139252819-139253320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:139253967-139254614 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:139256460-139257659 Neighboring gene actin gamma 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20615 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:139326683-139327202 Neighboring gene RN7SK pseudogene 124 Neighboring gene retinol binding protein 1 Neighboring gene RNA, 7SL, cytoplasmic 724, pseudogene Neighboring gene DTWD1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14769 Neighboring gene Sharpr-MPRA regulatory region 1318 Neighboring gene MPRA-validated peak4849 silencer Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14771 Neighboring gene calsyntenin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20616 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:139917505-139918704 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:139922884-139923456 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:139923457-139924028 Neighboring gene uncharacterized LOC124909440

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
  • 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. Insight into molecular and functional properties of NMNAT3 reveals new hints of NAD homeostasis within human mitochondria. Felici R, et al. PLoS One, 2013. PMID 24155910, Free PMC Article
  2. Axon degeneration: Mechanisms and implications of a distinct program from cell death. Yan T, et al. Neurochem Int, 2010 Mar. PMID 20117162
  3. Nicotinamide/nicotinic acid mononucleotide adenylyltransferase, new insights into an ancient enzyme. Zhai RG, et al. Cell Mol Life Sci, 2009 Sep. PMID 19448972
  4. Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis. Zhang X, et al. J Biol Chem, 2003 Apr 11. PMID 12574164
  5. Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin. Zhou T, et al. J Biol Chem, 2002 Apr 12. PMID 11788603

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NMNAT3 is absent in mitochondria in human cells, and, akin to plants and yeast, cytosolic NAD maintains the mitochondrial NAD pool.
    Title: Insight into molecular and functional properties of NMNAT3 reveals new hints of NAD homeostasis within human mitochondria.
  2. Red blood cells represent the first human cell type with a remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent.
    Title: Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells.
  3. analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases
    Title: Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases.
  4. NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are localized to the Golgi complex and the mitochondria
    Title: Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
  5. NMN binds before ATP with the mitochondrial isozyme NMNAT3. Only NMNAT3 utilizes ITP efficiently in place of ATP, and NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar rates.
    Title: Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.
Submit: New GeneRIF Correction

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 nicotinamide-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
Process Evidence Code Pubs
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 nucleotide biosynthetic process IC
Inferred by Curator
more info
 PubMed 
involved_in response to tumor necrosis factor 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 axon IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3
Names
NMN adenylyltransferase 3
NMN/NaMN adenylyltransferase 3
NaMN adenylyltransferase 3
nicotinamide mononucleotide adenylyltransferase 3
nicotinate-nucleotide adenylyltransferase 3
pyridine nucleotide adenylyltransferase 3
NP_001186976.1
NP_001307439.1
NP_001307440.1
NP_001307441.1
NP_001307442.1
NP_001350897.1
NP_001388527.1
NP_001388528.1
NP_001388529.1
NP_001388530.1
NP_001388531.1
NP_001388532.1
NP_001388533.1
NP_001388534.1
NP_001388535.1
NP_001388536.1
NP_001388537.1
NP_001388538.1
NP_001388539.1
NP_001388540.1
NP_001388541.1
NP_835471.1

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.

mRNA and Protein(s)

  1. NM_001200047.3 → NP_001186976.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 2

    See identical proteins and their annotated locations for NP_001186976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three alternate in-frame exons in the 5' coding region, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS56282.1
    UniProtKB/Swiss-Prot
    Q96T66
    UniProtKB/TrEMBL
    Q49AL4
    Related
    ENSP00000412953.2, ENST00000413939.6
    Conserved Domains (1) summary
    cl00015
    Location:7 → 144
    nt_trans; nucleotidyl transferase superfamily

  2. NM_001320510.2 → NP_001307439.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS87147.1
    UniProtKB/TrEMBL
    A0A2R8YFG2
    Related
    ENSP00000496061.1, ENST00000643695.2
    Conserved Domains (2) summary
    cd09286
    Location:7 → 327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35 → 135
    DTW; DTW domain

  3. NM_001320511.2 → NP_001307440.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (4) is shorter than isoform 3. Variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    B3KVR6, D3DNF2, D3DNF3, Q8N4G1, Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:7 → 233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

  4. NM_001320512.2 → NP_001307441.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (4) is shorter than isoform 3. Variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    B3KVR6, D3DNF2, D3DNF3, Q8N4G1, Q96T66
    Related
    ENSP00000296202.6, ENST00000296202.12
    Conserved Domains (1) summary
    cd09286
    Location:7 → 233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

  5. NM_001320513.2 → NP_001307442.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon, and contains an alternate exon, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 3. The encoded isoform (5) has a shorter N-terminus compared to isoform 3.
    Source sequence(s)
    AC046134, AC110716
    UniProtKB/TrEMBL
    Q49AL4
    Conserved Domains (1) summary
    cl00015
    Location:2 → 123
    nt_trans; nucleotidyl transferase superfamily

  6. NM_001363968.1 → NP_001350897.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716, BC036218
    Consensus CDS
    CCDS87145.1
    UniProtKB/TrEMBL
    A0A2R8Y594, A0A2R8YEU0
    Conserved Domains (1) summary
    cl00015
    Location:7 → 115
    nt_trans; nucleotidyl transferase superfamily

  7. NM_001401598.1 → NP_001388527.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS87147.1
    UniProtKB/TrEMBL
    A0A2R8YFG2

  8. NM_001401599.1 → NP_001388528.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS87147.1
    UniProtKB/TrEMBL
    A0A2R8YFG2
    Related
    ENSP00000495112.1, ENST00000646611.1

  9. NM_001401600.1 → NP_001388529.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    B3KVR6, D3DNF2, D3DNF3, Q8N4G1, Q96T66
    Related
    ENSP00000516041.1, ENST00000704800.1

  10. NM_001401601.1 → NP_001388530.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    B3KVR6, D3DNF2, D3DNF3, Q8N4G1, Q96T66

  11. NM_001401602.1 → NP_001388531.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    B3KVR6, D3DNF2, D3DNF3, Q8N4G1, Q96T66

  12. NM_001401603.1 → NP_001388532.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    B3KVR6, D3DNF2, D3DNF3, Q8N4G1, Q96T66

  13. NM_001401604.1 → NP_001388533.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS3111.1

  14. NM_001401605.1 → NP_001388534.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS93398.1
    UniProtKB/TrEMBL
    A0A2R8YGL3
    Related
    ENSP00000496136.1, ENST00000642987.1

  15. NM_001401606.1 → NP_001388535.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS93398.1
    UniProtKB/TrEMBL
    A0A2R8YGL3

  16. NM_001401607.1 → NP_001388536.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS87145.1
    UniProtKB/TrEMBL
    A0A2R8Y594

  17. NM_001401608.1 → NP_001388537.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS87145.1
    UniProtKB/TrEMBL
    A0A2R8Y594
    Related
    ENSP00000494285.1, ENST00000645290.1

  18. NM_001401609.1 → NP_001388538.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS93397.1
    UniProtKB/TrEMBL
    D6RGH7

  19. NM_001401610.1 → NP_001388539.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS93397.1
    UniProtKB/TrEMBL
    D6RGH7
    Related
    ENSP00000426357.1, ENST00000512391.5

  20. NM_001401611.1 → NP_001388540.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS93397.1
    UniProtKB/TrEMBL
    D6RGH7

  21. NM_001401612.1 → NP_001388541.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS93397.1
    UniProtKB/TrEMBL
    D6RGH7

  22. NM_178177.5 → NP_835471.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 1

    See identical proteins and their annotated locations for NP_835471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks two alternate exons in the 5' coding region, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 3. The encoded isoform (1) has a shorter N-terminus compared to isoform 3.
    Source sequence(s)
    AC046134, AC110716
    Consensus CDS
    CCDS3111.1
    UniProtKB/Swiss-Prot
    Q96T66
    UniProtKB/TrEMBL
    Q49AL4
    Related
    ENSP00000340523.5, ENST00000339837.9
    Conserved Domains (1) summary
    cd09286
    Location:1 → 196
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RNA

  1. NR_174944.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    139560180..139678050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    142307606..142425486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96T66.2 GenPept UniProtKB/Swiss-Prot:Q96T66

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