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

    Gene ID: 349565, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See NMNAT3 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139560180..139678050, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (142307606..142425486, complement)
    RS_2024_09 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. Nicotinamide/nicotinic acid mononucleotide adenylyltransferase, new insights into an ancient enzyme. Zhai RG, et al. Cell Mol Life Sci, 2009 Sep. PMID 19448972, 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. 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
    4. 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
    5. 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

    See all (21) 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)

    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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