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

Gene ID: 349565, updated on 13-Mar-2020

Summary

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
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

Genomic context

See NMNAT3 in Genome Data Viewer
Location:
3q23
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (139560180..139678050, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139279022..139396885, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507291 Neighboring gene actin gamma 1 pseudogene 1 Neighboring gene retinol binding protein 1 Neighboring gene RN7SK pseudogene 124 Neighboring gene RNA, 7SL, cytoplasmic 724, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1318 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 5

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
 
nicotinamide-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
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 
Process Evidence Code Pubs
NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
NAD metabolic process TAS
Traceable Author Statement
more info
 
nucleotide biosynthetic process IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_835471.1
XP_011511092.1
XP_011511093.1
XP_016861817.1
XP_016861818.1
XP_016861819.1
XP_016861820.1
XP_016861821.1
XP_016861822.1
XP_016861823.1
XP_016861824.1
XP_016861825.1
XP_016861826.1
XP_016861827.1
XP_016861828.1
XP_016861829.1
XP_016861830.1
XP_016861831.1
XP_016861832.1

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.

mRNA and Protein(s)

  1. NM_001200047.2NP_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, AK123208, BC036218, HY004197
    Consensus CDS
    CCDS56282.1
    UniProtKB/Swiss-Prot
    Q96T66
    UniProtKB/TrEMBL
    Q49AL4
    Related
    ENSP00000412953.2, ENST00000413939.6
    Conserved Domains (1) summary
    cl00015
    Location:7144
    nt_trans; nucleotidyl transferase superfamily
  2. NM_001320510.2NP_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
    Q49AL4
    Related
    ENSP00000496061.1, ENST00000643695.2
    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  3. NM_001320511.1NP_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, BC036218
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    Q96T66
    UniProtKB/TrEMBL
    Q49AL4
    Conserved Domains (1) summary
    cd09286
    Location:7233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  4. NM_001320512.1NP_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, BC036218
    Consensus CDS
    CCDS82846.1
    UniProtKB/Swiss-Prot
    Q96T66
    UniProtKB/TrEMBL
    Q49AL4
    Related
    ENSP00000296202.6, ENST00000296202.11
    Conserved Domains (1) summary
    cd09286
    Location:7233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  5. NM_001320513.1NP_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)
    AC110716, BC036218, HY004197
    UniProtKB/TrEMBL
    Q49AL4
    Conserved Domains (1) summary
    cl00015
    Location:2123
    nt_trans; nucleotidyl transferase superfamily
  6. NM_001363968.1NP_001350897.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC046134, AC110716, BC036218
    Consensus CDS
    CCDS87145.1
    Conserved Domains (1) summary
    cl00015
    Location:7115
    nt_trans; nucleotidyl transferase superfamily
  7. NM_178177.4NP_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)
    AC110716, BC034374, BC036218, HY004197
    Consensus CDS
    CCDS3111.1
    UniProtKB/Swiss-Prot
    Q96T66
    UniProtKB/TrEMBL
    Q49AL4
    Related
    ENSP00000340523.5, ENST00000339837.9
    Conserved Domains (1) summary
    cd09286
    Location:1196
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017006340.1XP_016861829.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X4

    Related
    ENSP00000496136.1, ENST00000642987.1
  2. XM_017006343.1XP_016861832.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X5

    Conserved Domains (1) summary
    cl00015
    Location:7115
    nt_trans; nucleotidyl transferase superfamily
  3. XM_017006342.1XP_016861831.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X5

    Conserved Domains (1) summary
    cl00015
    Location:7115
    nt_trans; nucleotidyl transferase superfamily
  4. XM_017006334.1XP_016861823.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  5. XM_017006333.1XP_016861822.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  6. XM_017006330.1XP_016861819.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  7. XM_017006329.1XP_016861818.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  8. XM_017006328.1XP_016861817.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Related
    ENSP00000495112.1, ENST00000646611.1
    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  9. XM_017006331.1XP_016861820.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  10. XM_017006337.2XP_016861826.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X2

    UniProtKB/Swiss-Prot
    Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:7233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  11. XM_017006336.2XP_016861825.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X2

    UniProtKB/Swiss-Prot
    Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:7233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  12. XM_017006335.2XP_016861824.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X2

    UniProtKB/Swiss-Prot
    Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:7233
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  13. XM_011512791.2XP_011511093.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X3

    See identical proteins and their annotated locations for XP_011511093.1

    UniProtKB/Swiss-Prot
    Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:1196
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  14. XM_017006341.1XP_016861830.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X5

    Related
    ENSP00000494285.1, ENST00000645290.1
    Conserved Domains (1) summary
    cl00015
    Location:7115
    nt_trans; nucleotidyl transferase superfamily
  15. XM_017006339.1XP_016861828.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X4

  16. XM_017006332.1XP_016861821.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X1

    Conserved Domains (2) summary
    cd09286
    Location:7327
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    cl01221
    Location:35135
    DTW; DTW domain
  17. XM_017006338.1XP_016861827.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X3

    UniProtKB/Swiss-Prot
    Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:1196
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  18. XM_011512790.1XP_011511092.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform X3

    See identical proteins and their annotated locations for XP_011511092.1

    UniProtKB/Swiss-Prot
    Q96T66
    Conserved Domains (1) summary
    cd09286
    Location:1196
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
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