LOCUS       NM_145201               1682 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens nicotinate phosphoribosyltransferase (NAPRT),
            transcript variant 1, mRNA.
ACCESSION   NM_145201
VERSION     NM_145201.6
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 1682)
  AUTHORS   Wang,N., Pan,D., Wang,X., Su,M., Wang,X., Yan,Q., Sun,G. and
            Wang,S.
  TITLE     NAPRT, but Not NAMPT, Provides Additional Support for NAD Synthesis
            in Esophageal Precancerous Lesions
  JOURNAL   Nutrients 14 (22), 4916 (2022)
   PUBMED   36432602
  REMARK    GeneRIF: NAPRT, but Not NAMPT, Provides Additional Support for NAD
            Synthesis in Esophageal Precancerous Lesions.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1682)
  AUTHORS   Duarte-Pereira,S., Fajarda,O., Matos,S., Luis Oliveira,J. and
            Silva,R.M.
  TITLE     NAPRT Expression Regulation Mechanisms: Novel Functions Predicted
            by a Bioinformatics Approach
  JOURNAL   Genes (Basel) 12 (12), 2022 (2021)
   PUBMED   34946971
  REMARK    GeneRIF: NAPRT Expression Regulation Mechanisms: Novel Functions
            Predicted by a Bioinformatics Approach.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1682)
  AUTHORS   Periyasamy,S., John,S., Padmavati,R., Rajendren,P.,
            Thirunavukkarasu,P., Gratten,J., Vinkhuyzen,A., McRae,A.,
            Holliday,E.G., Nyholt,D.R., Nancarrow,D., Bakshi,A., Hemani,G.,
            Nertney,D., Smith,H., Filippich,C., Patel,K., Fowdar,J., McLean,D.,
            Tirupati,S., Nagasundaram,A., Gundugurti,P.R., Selvaraj,K.,
            Jegadeesan,J., Jorde,L.B., Wray,N.R., Brown,M.A., Suetani,R.,
            Giacomotto,J., Thara,R. and Mowry,B.J.
  TITLE     Association of Schizophrenia Risk With Disordered Niacin Metabolism
            in an Indian Genome-wide Association Study
  JOURNAL   JAMA Psychiatry 76 (10), 1026-1034 (2019)
   PUBMED   31268507
  REMARK    GeneRIF: Association of Schizophrenia Risk With Disordered Niacin
            Metabolism in an Indian Genome-wide Association Study.
REFERENCE   4  (bases 1 to 1682)
  AUTHORS   Manago,A., Audrito,V., Mazzola,F., Sorci,L., Gaudino,F., Gizzi,K.,
            Vitale,N., Incarnato,D., Minazzato,G., Ianniello,A., Varriale,A.,
            D'Auria,S., Mengozzi,G., Politano,G., Oliviero,S., Raffaelli,N. and
            Deaglio,S.
  TITLE     Extracellular nicotinate phosphoribosyltransferase binds Toll like
            receptor 4 and mediates inflammation
  JOURNAL   Nat Commun 10 (1), 4116 (2019)
   PUBMED   31511522
  REMARK    GeneRIF: these data identify NAPRT as a endogenous ligand for TLR4
            and a mediator of inflammation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1682)
  AUTHORS   Fons,N.R., Sundaram,R.K., Breuer,G.A., Peng,S., McLean,R.L.,
            Kalathil,A.N., Schmidt,M.S., Carvalho,D.M., Mackay,A., Jones,C.,
            Carcaboso,A.M., Nazarian,J., Berens,M.E., Brenner,C. and
            Bindra,R.S.
  TITLE     PPM1D mutations silence NAPRT gene expression and confer NAMPT
            inhibitor sensitivity in glioma
  JOURNAL   Nat Commun 10 (1), 3790 (2019)
   PUBMED   31439867
  REMARK    GeneRIF: Study demonstrated that PPM1D mutant astrocytes and
            patient-derived PPM1D mutant diffuse intrinsic pontine glioma lines
            are particularly sensitive to treatment with NAMPT inhibitors.
            Mutant PPM1D-induced NAMPT inhibitor sensitivity is driven by
            hypermethylation of CpG islands throughout the genome and the
            epigenetic silencing of NAPRT, a key gene involved in NAD
            biosynthesis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1682)
  AUTHORS   Olesen,U.H., Hastrup,N. and Sehested,M.
  TITLE     Expression patterns of nicotinamide phosphoribosyltransferase and
            nicotinic acid phosphoribosyltransferase in human malignant
            lymphomas
  JOURNAL   APMIS 119 (4-5), 296-303 (2011)
   PUBMED   21492230
  REMARK    GeneRIF: NAPRT expression was varied in lymphomas with 30-50% low
            expression except for Hodgkin's lymphoma where 85% displayed low
            expression
REFERENCE   7  (bases 1 to 1682)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (bases 1 to 1682)
  AUTHORS   Lasky-Su,J., Neale,B.M., Franke,B., Anney,R.J., Zhou,K.,
            Maller,J.B., Vasquez,A.A., Chen,W., Asherson,P., Buitelaar,J.,
            Banaschewski,T., Ebstein,R., Gill,M., Miranda,A., Mulas,F.,
            Oades,R.D., Roeyers,H., Rothenberger,A., Sergeant,J.,
            Sonuga-Barke,E., Steinhausen,H.C., Taylor,E., Daly,M., Laird,N.,
            Lange,C. and Faraone,S.V.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
REFERENCE   9  (bases 1 to 1682)
  AUTHORS   Hara,N., Yamada,K., Shibata,T., Osago,H., Hashimoto,T. and
            Tsuchiya,M.
  TITLE     Elevation of cellular NAD levels by nicotinic acid and involvement
            of nicotinic acid phosphoribosyltransferase in human cells
  JOURNAL   J Biol Chem 282 (34), 24574-24582 (2007)
   PUBMED   17604275
  REMARK    GeneRIF: NA elevates cellular NAD levels through NAPRT function
            and, thus, protects the cells against stress, partly due to lack of
            feedback inhibition of NAPRT but not NamPRT by NAD
REFERENCE   10 (bases 1 to 1682)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN260784.1, BC006284.2, AC067930.7 and AB242230.1.
            
            On Nov 23, 2018 this sequence version replaced NM_145201.5.
            
            Summary: Nicotinic acid (NA; niacin) is converted by nicotinic acid
            phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide
            (NaMN), which is then converted to NA adenine dinucleotide (NaAD),
            and finally to nicotinamide adenine dinucleotide (NAD), which
            serves as a coenzyme in cellular redox reactions and is an
            essential component of a variety of processes in cellular
            metabolism including response to stress (Hara et al.,
            2007).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC006284.2, AB242230.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000449291.7/ ENSP00000401508.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 CN260784.1         23-29
            8-924               BC006284.2         1-917
            925-925             AC067930.7         114706-114706       c
            926-1680            BC006284.2         919-1673
            1681-1682           AB242230.1         1689-1690
FEATURES             Location/Qualifiers
     source          1..1682
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1682
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /note="nicotinate phosphoribosyltransferase"
                     /db_xref="GeneID:93100"
                     /db_xref="HGNC:HGNC:30450"
                     /db_xref="MIM:611552"
     exon            1..238
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1629
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /EC_number="6.3.4.21"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nicotinic acid phosphoribosyltransferase; NAPRTase;
                     nicotinate phosphoribosyltransferase domain containing 1;
                     FHA-HIT-interacting protein; nicotinate
                     phosphoribosyltransferase domain-containing protein 1"
                     /codon_start=1
                     /product="nicotinate phosphoribosyltransferase isoform 1"
                     /protein_id="NP_660202.3"
                     /db_xref="CCDS:CCDS6403.2"
                     /db_xref="GeneID:93100"
                     /db_xref="HGNC:HGNC:30450"
                     /db_xref="MIM:611552"
                     /translation="MAAEQDPEARAAARPLLTDLYQATMALGYWRAGRARDAAEFELF
                     FRRCPFGGAFALAAGLRDCVRFLRAFRLRDADVQFLASVLPPDTDPAFFEHLRALDCS
                     EVTVRALPEGSLAFPGVPLLQVSGPLLVVQLLETPLLCLVSYASLVATNAARLRLIAG
                     PEKRLLEMGLRRAQGPDGGLTASTYSYLGGFDSSSNVLAGQLRGVPVAGTLAHSFVTS
                     FSGSEVPPDPMLAPAAGEGPGVDLAAKAQVWLEQVCAHLGLGVQEPHPGERAAFVAYA
                     LAFPRAFQGLLDTYSVWRSGLPNFLAVALALGELGYRAVGVRLDSGDLLQQAQEIRKV
                     FRAAAAQFQVPWLESVLIVVSNNIDEEALARLAQEGSEVNVIGIGTSVVTCPQQPSLG
                     GVYKLVAVGGQPRMKLTEDPEKQTLPGSKAAFRLLGSDGSPLMDMLQLAEEPVPQAGQ
                     ELRVWPPGAQEPCTVRPAQVEPLLRLCLQQGQLCEPLPSLAESRALAQLSLSRLSPEH
                     RRLRSPAQYQVVLSERLQALVNSLCAGQSP"
     exon            239..366
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            367..449
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            450..580
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            581..696
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            697..893
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1034
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1119
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1200
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1303
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1458
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1566
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1682
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1682
                     /gene="NAPRT"
                     /gene_synonym="NAPRT1; PP3856"
                     /note="major polyA site"
ORIGIN      
        1 gtcgggagca ggatggcggc ggagcaggac cccgaggcgc gcgcggcggc gcggccgctg
       61 ctcactgacc tctaccaggc caccatggcg ttgggctatt ggcgcgcggg ccgggcgcgg
      121 gacgccgccg agttcgagct cttcttccgc cgctgcccgt tcggcggcgc cttcgccttg
      181 gccgccggct tgcgcgactg tgtgcgcttc ctgcgcgcct tccgcctgcg ggacgccgac
      241 gtgcagttcc tggcctcggt gctgccccca gacacggatc ctgcgttctt cgagcacctt
      301 cgggccctcg actgctccga ggtgacggtg cgagccctgc ccgagggctc cctcgccttc
      361 cccggagtgc cgctcctgca ggtgtccggg ccgctcctgg tggtgcagct gctggagaca
      421 ccgctgctct gcctggtcag ctacgccagc ctggtggcca ccaacgcagc gcggcttcgc
      481 ttgatcgcag ggccagagaa gcggctgcta gagatgggcc tgaggcgggc tcagggcccc
      541 gatgggggcc tgacagcctc cacctacagc tacctgggcg gcttcgacag cagcagcaac
      601 gtgctagcgg gccagctgcg aggtgtgccg gtggccggga ccctggccca ctccttcgtc
      661 acttcctttt caggcagcga ggtgccccct gacccgatgt tggcgccagc agctggtgag
      721 ggccctgggg tggacctggc ggccaaagcc caggtgtggc tggagcaggt gtgtgcccac
      781 ctggggctgg gggtgcagga gccgcatcca ggcgagcggg cagcctttgt ggcctatgcc
      841 ttggcttttc cccgggcctt ccagggcctc ctggacacct acagcgtgtg gaggagtggt
      901 ctccccaact tcctagcagt cgccctggcc ctgggagagc tgggctaccg ggcagtgggc
      961 gtgaggctgg acagtggtga cctgctacag caggctcagg agatccgcaa ggtcttccga
     1021 gctgctgcag cccagttcca ggtgccctgg ctggagtcag tcctcatcgt agtcagcaac
     1081 aacattgacg aggaggcgct ggcccgactg gcccaggagg gcagtgaggt gaatgtcatt
     1141 ggcattggca ccagtgtggt cacctgcccc caacagcctt ccctgggtgg cgtctataag
     1201 ctggtggccg tggggggcca gccacgaatg aagctgaccg aggaccccga gaagcagacg
     1261 ttgcctggga gcaaggctgc tttccggctc ctgggctctg acgggtctcc actcatggac
     1321 atgctgcagt tagcagaaga gccagtgcca caggctgggc aggagctgag ggtgtggcct
     1381 ccaggggccc aggagccctg caccgtgagg ccagcccagg tggagccact actgcggctc
     1441 tgcctccagc agggacagct gtgtgagccg ctcccatccc tggcagagtc tagagccttg
     1501 gcccagctgt ccctgagccg actcagccct gagcacaggc ggctgcggag ccctgcacag
     1561 taccaggtgg tgctgtccga gaggctgcag gccctggtga acagtctgtg tgcggggcag
     1621 tccccctgag actcggagcg gggctgactg gaaacaacac gaatcactca cttttcccca
     1681 ca
//
