LOCUS       NM_001401600            2023 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens nicotinamide nucleotide adenylyltransferase 3
            (NMNAT3), transcript variant 10, mRNA.
ACCESSION   NM_001401600 XM_017006335
VERSION     NM_001401600.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2023)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2023)
  AUTHORS   Felici,R., Lapucci,A., Ramazzotti,M. and Chiarugi,A.
  TITLE     Insight into molecular and functional properties of NMNAT3 reveals
            new hints of NAD homeostasis within human mitochondria
  JOURNAL   PLoS One 8 (10), e76938 (2013)
   PUBMED   24155910
  REMARK    GeneRIF: NMNAT3 is absent in mitochondria in human cells, and, akin
            to plants and yeast, cytosolic NAD maintains the mitochondrial NAD
            pool.
            Erratum:[PLoS One. 2013;8(12).
            doi:10.1371/annotation/f5e6107f-a911-4c15-a881-7cb7e4946ff6]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2023)
  AUTHORS   Brunetti,L., Di Stefano,M., Ruggieri,S., Cimadamore,F. and Magni,G.
  TITLE     Homology modeling and deletion mutants of human nicotinamide
            mononucleotide adenylyltransferase isozyme 2: new insights on
            structure and function relationship
  JOURNAL   Protein Sci 19 (12), 2440-2450 (2010)
   PUBMED   20954240
REFERENCE   4  (bases 1 to 2023)
  AUTHORS   Di Stefano,M., Galassi,L. and Magni,G.
  TITLE     Unique expression pattern of human nicotinamide mononucleotide
            adenylyltransferase isozymes in red blood cells
  JOURNAL   Blood Cells Mol Dis 45 (1), 33-39 (2010)
   PUBMED   20457531
  REMARK    GeneRIF: Red blood cells represent the first human cell type with a
            remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent.
REFERENCE   5  (bases 1 to 2023)
  AUTHORS   Lau,C., Dolle,C., Gossmann,T.I., Agledal,L., Niere,M. and
            Ziegler,M.
  TITLE     Isoform-specific targeting and interaction domains in human
            nicotinamide mononucleotide adenylyltransferases
  JOURNAL   J Biol Chem 285 (24), 18868-18876 (2010)
   PUBMED   20388704
  REMARK    GeneRIF: analysis of isoform-specific targeting and interaction
            domains in human nicotinamide mononucleotide adenylyltransferases
REFERENCE   6  (bases 1 to 2023)
  AUTHORS   Sorci,L., Cimadamore,F., Scotti,S., Petrelli,R., Cappellacci,L.,
            Franchetti,P., Orsomando,G. and Magni,G.
  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
  JOURNAL   Biochemistry 46 (16), 4912-4922 (2007)
   PUBMED   17402747
  REMARK    GeneRIF: 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.
REFERENCE   7  (bases 1 to 2023)
  AUTHORS   Berger,F., Lau,C., Dahlmann,M. and Ziegler,M.
  TITLE     Subcellular compartmentation and differential catalytic properties
            of the three human nicotinamide mononucleotide adenylyltransferase
            isoforms
  JOURNAL   J Biol Chem 280 (43), 36334-36341 (2005)
   PUBMED   16118205
  REMARK    GeneRIF: NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are
            localized to the Golgi complex and the mitochondria
REFERENCE   8  (bases 1 to 2023)
  AUTHORS   Magni,G., Amici,A., Emanuelli,M., Orsomando,G., Raffaelli,N. and
            Ruggieri,S.
  TITLE     Enzymology of NAD+ homeostasis in man
  JOURNAL   Cell Mol Life Sci 61 (1), 19-34 (2004)
   PUBMED   14704851
  REMARK    Review article
REFERENCE   9  (bases 1 to 2023)
  AUTHORS   Zhang,X., Kurnasov,O.V., Karthikeyan,S., Grishin,N.V.,
            Osterman,A.L. and Zhang,H.
  TITLE     Structural characterization of a human cytosolic NMN/NaMN
            adenylyltransferase and implication in human NAD biosynthesis
  JOURNAL   J Biol Chem 278 (15), 13503-13511 (2003)
   PUBMED   12574164
REFERENCE   10 (bases 1 to 2023)
  AUTHORS   Zhou,T., Kurnasov,O., Tomchick,D.R., Binns,D.D., Grishin,N.V.,
            Marquez,V.E., Osterman,A.L. and Zhang,H.
  TITLE     Structure of human nicotinamide/nicotinic acid mononucleotide
            adenylyltransferase. Basis for the dual substrate specificity and
            activation of the oncolytic agent tiazofurin
  JOURNAL   J Biol Chem 277 (15), 13148-13154 (2002)
   PUBMED   11788603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110716.6 and AC046134.8.
            
            On Feb 16, 2022 this sequence version replaced XM_017006335.2.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.3091415.1,
                                           SRR1660805.111570.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 20388704
            MANE Ensembl match                 :: ENST00000704800.1/
                                                  ENSP00000516041.1
            RefSeq Select criteria             :: based on manual assertion
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-268               AC110716.6         65108-65375
            269-368             AC046134.8         39055-39154
            369-405             AC046134.8         42470-42506
            406-554             AC046134.8         49353-49501
            555-738             AC046134.8         98062-98245
            739-821             AC046134.8         103437-103519
            822-2023            AC046134.8         115725-116926
FEATURES             Location/Qualifiers
     source          1..2023
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..2023
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /note="nicotinamide nucleotide adenylyltransferase 3"
                     /db_xref="GeneID:349565"
                     /db_xref="HGNC:HGNC:20989"
                     /db_xref="MIM:608702"
     exon            1..268
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            269..368
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            369..405
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            406..554
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             446..1204
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /EC_number="2.7.7.1"
                     /EC_number="2.7.7.18"
                     /note="isoform 4 is encoded by transcript variant 10;
                     pyridine nucleotide adenylyltransferase 3; NaMN
                     adenylyltransferase 3; NMN adenylyltransferase 3;
                     nicotinamide mononucleotide adenylyltransferase 3;
                     nicotinate-nucleotide adenylyltransferase 3; NMN/NaMN
                     adenylyltransferase 3; nicotinamide/nicotinic acid
                     mononucleotide adenylyltransferase 3"
                     /codon_start=1
                     /product="nicotinamide/nicotinic acid mononucleotide
                     adenylyltransferase 3 isoform 4"
                     /protein_id="NP_001388529.1"
                     /db_xref="CCDS:CCDS82846.1"
                     /db_xref="GeneID:349565"
                     /db_xref="HGNC:HGNC:20989"
                     /db_xref="MIM:608702"
                     /translation="MKSRIPVVLLACGSFNPITNMHLRMFEVARDHLHQTGMYQVIQG
                     IISPVNDTYGKKDLAASHHRVAMARLALQTSDWIRVDPWESEQAQWMETVKVLRHHHS
                     KLLRSPPQMEGPDHGKALFSTPAAVPELKLLCGADVLKTFQTPNLWKDAHIQEIVEKF
                     GLVCVGRVGHDPKGYIAESPILRMHQHNIHLAKEPVQNEISATYIRRALGQGQSVKYL
                     IPDAVITYIKDHGLYTKGSTWKGKSTQSTEGKTS"
     exon            555..738
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            739..821
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     exon            822..2023
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2002..2007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /note="hexamer: AATAAA"
     polyA_site      2023
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /note="major polyA site"
ORIGIN      
        1 agactccatc tgcccggggc cgctaaggga gcgcaaggtc aagttcgcct tggccccgcc
       61 tccagctcag gtactagggg atctagacct gaggctgccc gggccggagg cagccttgag
      121 tcccgagacc aaacgtcgtt tccctctcgg acctcgggcg ccgggccgcg cgctgaccga
      181 cagcccctgc taggcccagc aggtccccta gtcccccgca gtcccccgag actcgccgag
      241 cgccgttgct gagccctgca aatagcagct acctgcttca gcctagatcc tgccatgaag
      301 cggactgctg ctccctggct cccactctga tctgcttttc actcttgcct tgtctcccaa
      361 ttaataaggg gtggctggca gaggatcctt acaccgacaa ggaagcaggg tggccactgc
      421 aacaggtgtg gatgtgcctg acaagatgaa gagccgaata cctgtggtgc tcctggcctg
      481 tggctccttt aaccccatca ccaacatgca cctgcgcatg tttgaggtgg ccagagatca
      541 cctacaccaa acaggaatgt accaggtcat ccagggtatc atctctcctg tcaacgacac
      601 ctatgggaag aaagacctcg cagcttctca tcaccgagtg gccatggccc ggctggccct
      661 gcagacatcc gactggatcc gggtggaccc ttgggagagt gagcaggcac agtggatgga
      721 gacagtgaag gtgctgaggc atcatcacag caaactgctc agatctccac cccagatgga
      781 aggcccagac catggcaagg cactcttctc gacccctgca gctgtgcctg agctgaagct
      841 tctctgtggg gcagacgtct tgaagacctt ccagaccccc aacctctgga aggatgcgca
      901 catccaggaa atagtggaga agtttggctt ggtgtgcgtg ggccgagtag gtcacgaccc
      961 aaaaggttac atcgcagaat ctcccatcct acggatgcac cagcacaaca ttcacctggc
     1021 caaggagcct gtgcagaatg agatcagtgc cacatacatc aggcgagcct tgggccaagg
     1081 gcagagcgta aagtacctga ttcccgatgc tgtcatcacg tacatcaagg accatggcct
     1141 ctacaccaag ggcagtacct ggaaaggcaa aagcacccag agcactgagg gcaagacaag
     1201 ctagggaggg gggactcagc acccacacct cctccaacaa gctcctgctg gggagagggc
     1261 tgttaaggtt tctgttttac tttggttttt gcttctccat ttttcatttg ctttatttct
     1321 acagtgattc tacttctgag gagtcttctg tcccaggaag agataccttc tttacaggag
     1381 aggaaaggtc taaatcacaa ggatagacat ttatcaaaga agttaaaatg gtgtggcagg
     1441 tcattaggat taggcagaat ctctcagagc tgctggacaa ggaggtctac ttattttgtg
     1501 tggatggtaa ttatggcatg cacgctgaat gcagttctga gcatggcagc ggcccctgag
     1561 ggtcagatca gaattgccca caatgtgttt tttaactagg accaggtgca gcatgctagt
     1621 cttgattgga aagatttgac aggatgctaa ttactgaaca gtgggttttg tcaacgccct
     1681 ggtttcagaa tatgaactga ggagtcaaac agttggaaac agcacattgc tgatttacac
     1741 tggatcttgc cttagaaacc attgtctgcc tgcctaacca gcttttcata aaatttaaac
     1801 aaaactcttt ctacgtagtg atcctcaagc aatatttttg atacagcaag tgtcaaactt
     1861 gctatagcat aaaagccggg gctcctgatt tccaggtttc taaaaaggaa ctgaggtaaa
     1921 acagatgcct gaccgtttta aaggatcttt tttaatgttt tatgactgcc tgtctgtttg
     1981 aatactggca aagggataaa taataaattg acatcaaaaa gta
//
