LOCUS       NM_001318250            1756 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens quinolinate phosphoribosyltransferase (QPRT),
            transcript variant 3, mRNA.
ACCESSION   NM_001318250
VERSION     NM_001318250.2
KEYWORDS    RefSeq.
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 1756)
  AUTHORS   Yan,Y., Li,L., Wang,Z., Pang,J., Guan,X., Yuan,Y., Xia,Z. and Yi,W.
  TITLE     A comprehensive analysis of the role of QPRT in breast cancer
  JOURNAL   Sci Rep 13 (1), 15414 (2023)
   PUBMED   37723185
  REMARK    GeneRIF: A comprehensive analysis of the role of QPRT in breast
            cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1756)
  AUTHORS   Yue,Z., Shusheng,J., Hongtao,S., Shu,Z., Lan,H., Qingyuan,Z.,
            Shaoqiang,C. and Yuanxi,H.
  TITLE     Silencing DSCAM-AS1 suppresses the growth and invasion of
            ER-positive breast cancer cells by downregulating both DCTPP1 and
            QPRT
  JOURNAL   Aging (Albany NY) 12 (14), 14754-14774 (2020)
   PUBMED   32716908
  REMARK    GeneRIF: Silencing DSCAM-AS1 suppresses the growth and invasion of
            ER-positive breast cancer cells by downregulating both DCTPP1 and
            QPRT.
            Erratum:[Aging (Albany NY). 2022 Jan 15;14(1):528-529. doi:
            10.18632/aging.203837.. PMID: 35050859]
REFERENCE   3  (bases 1 to 1756)
  AUTHORS   Jane,E.P., Premkumar,D.R., Thambireddy,S., Golbourn,B.,
            Agnihotri,S., Bertrand,K.C., Mack,S.C., Myers,M.I.,
            Chattopadhyay,A., Taylor,D.L., Schurdak,M.E., Stern,A.M. and
            Pollack,I.F.
  TITLE     Targeting NAD+ Biosynthesis Overcomes Panobinostat and
            Bortezomib-Induced Malignant Glioma Resistance
  JOURNAL   Mol Cancer Res 18 (7), 1004-1017 (2020)
   PUBMED   32238439
  REMARK    GeneRIF: Targeting NAD(+) Biosynthesis Overcomes Panobinostat and
            Bortezomib-Induced Malignant Glioma Resistance.
REFERENCE   4  (bases 1 to 1756)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1756)
  AUTHORS   Haslinger,D., Waltes,R., Yousaf,A., Lindlar,S., Schneider,I.,
            Lim,C.K., Tsai,M.M., Garvalov,B.K., Acker-Palmer,A., Krezdorn,N.,
            Rotter,B., Acker,T., Guillemin,G.J., Fulda,S., Freitag,C.M. and
            Chiocchetti,A.G.
  TITLE     Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant
            neuronal differentiation in the SH-SY5Y neuronal cell model
  JOURNAL   Mol Autism 9, 56 (2018)
   PUBMED   30443311
  REMARK    GeneRIF: Our data suggest that QPRT may play an important role in
            the pathogenesis of autism spectrum disorders in Chr16p11.2
            deletion carriers.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1756)
  AUTHORS   Liu,H., Woznica,K., Catton,G., Crawford,A., Botting,N. and
            Naismith,J.H.
  TITLE     Structural and kinetic characterization of quinolinate
            phosphoribosyltransferase (hQPRTase) from homo sapiens
  JOURNAL   J Mol Biol 373 (3), 755-763 (2007)
   PUBMED   17868694
REFERENCE   7  (bases 1 to 1756)
  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   8  (bases 1 to 1756)
  AUTHORS   Fukuoka,S. and Shibata,K.
  TITLE     Characterization and functional expression of the cDNA encoding
            human brain quinolinate phosphoribosyltransferase
  JOURNAL   Adv Exp Med Biol 467, 611-614 (1999)
   PUBMED   10721107
REFERENCE   9  (bases 1 to 1756)
  AUTHORS   Fukuoka,S.I., Nyaruhucha,C.M. and Shibata,K.
  TITLE     Characterization and functional expression of the cDNA encoding
            human brain quinolinate phosphoribosyltransferase
  JOURNAL   Biochim Biophys Acta 1395 (2), 192-201 (1998)
   PUBMED   9473669
REFERENCE   10 (bases 1 to 1756)
  AUTHORS   Feldblum,S., Rougier,A., Loiseau,H., Loiseau,P., Cohadon,F.,
            Morselli,P.L. and Lloyd,K.G.
  TITLE     Quinolinic-phosphoribosyl transferase activity is decreased in
            epileptic human brain tissue
  JOURNAL   Epilepsia 29 (5), 523-529 (1988)
   PUBMED   3409840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009086.6 and AC009133.7.
            
            On May 21, 2020 this sequence version replaced NM_001318250.1.
            
            Summary: This gene encodes a key enzyme in catabolism of
            quinolinate, an intermediate in the tryptophan-nicotinamide adenine
            dinucleotide pathway. Quinolinate acts as a most potent endogenous
            exitotoxin to neurons. Elevation of quinolinate levels in the brain
            has been linked to the pathogenesis of neurodegenerative disorders
            such as epilepsy, Alzheimer's disease, and Huntington's disease.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (3) contains an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. It
            encodes isoform 3, which lacks an internal in-frame segment, and is
            shorter compared to 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 :: DA476206.1, SRR18074967.2733671.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC009086.6         189304-189334
            32-123              AC009133.7         170634-170725       c
            124-255             AC009133.7         168262-168393       c
            256-1756            AC009133.7         166690-168190       c
FEATURES             Location/Qualifiers
     source          1..1756
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1756
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="quinolinate phosphoribosyltransferase"
                     /db_xref="GeneID:23475"
                     /db_xref="HGNC:HGNC:9755"
                     /db_xref="MIM:606248"
     exon            1..31
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..468
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /EC_number="2.4.2.19"
                     /note="isoform 3 is encoded by transcript variant 3;
                     nicotinate-nucleotide pyrophosphorylase (carboxylating);
                     epididymis secretory sperm binding protein Li 90n"
                     /codon_start=1
                     /product="nicotinate-nucleotide pyrophosphorylase
                     [carboxylating] isoform 3"
                     /protein_id="NP_001305179.2"
                     /db_xref="CCDS:CCDS81965.1"
                     /db_xref="GeneID:23475"
                     /db_xref="HGNC:HGNC:9755"
                     /db_xref="MIM:606248"
                     /translation="MDAEGLALLLPPVTLAALVDSWLREDCPGLNYAALAVRAARQAA
                     DFTLKVEVECSSLQEAVQAAEAGADLVLLDNFKPEELHPTATVLKAQFPSVAVEASGG
                     ITLDNLPQFCGPHIDVISMGMLTQAAPALDFSLKLFAKEVAPVPKIH"
     exon            32..123
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     exon            124..255
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     exon            256..1756
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      678..683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="hexamer: AATAAA"
     polyA_site      695
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="major polyA site"
     regulatory      1735..1740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="hexamer: AATAAA"
     polyA_site      1756
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="major polyA site"
ORIGIN      
        1 agacagctgc aagtcaccat ggacgctgaa ggcctggcgc tgctgctgcc gcccgtcacc
       61 ctggcagccc tggtggacag ctggctccga gaggactgcc cagggctcaa ctacgcagcc
      121 ttggcggtgc gggcggccag acaggcggct gacttcactc tgaaggtgga agtggaatgc
      181 agcagcctgc aggaggccgt gcaggcagct gaggctggtg ccgaccttgt cctgctggac
      241 aacttcaagc cagaggagct gcaccccacg gccaccgtgc tgaaggccca gttcccgagt
      301 gtggctgtgg aagccagtgg gggcatcacc ctggacaacc tcccccagtt ctgcgggccg
      361 cacatagacg tcatctccat ggggatgctg acccaggcgg ccccagccct tgatttctcc
      421 ctcaagctgt ttgccaaaga ggtggctcca gtgcccaaaa tccactagtc ctaaaccgga
      481 agaggatgac accggccatg ggttaacgtg gctcctcagg accctctggg tcacacatct
      541 ttagggtcag tggccaatgg ggcacatttg gcactagctt gagcccaact ctggctctgc
      601 cacctgctgc tcctgtgacc tgtcagggct gacttcacct ctgctcatct cagtttccta
      661 atctgtaaaa tgggtctaat aaaggatcaa ccacatgggg ttctgcggtg ataatgagca
      721 catagtgagg ggtcagcaaa tgtcagaagt tacctgggac agccgggcac gatggctcac
      781 acctgtaatc ccagcacttt gggaggctga ggcgggaaga tcacttgagt tcaggagttt
      841 gagaccagcc tggccaacat ggtgaaaccc catctctacc aaaaatagaa gaattagctg
      901 ggtgtggtgg cacgcgcctg taatcccagc tacttaggag gctgaggcag gagaatcgct
      961 tgaacccagg aagtggaggt tgcagtgagc tgatggtgcc actgcactcc agcctgggtg
     1021 atagagcgag actctgtctc caaagaagaa acaaaggaaa gaaagagaga aagagagagg
     1081 gagggaggga gggagggaaa ggaaggatgg aaagaaagga agaaaggcag gcaaaagccc
     1141 cagacaggcc aaaaccttca tccttcatgc acccaacctg taccaaacac cagcatggcc
     1201 tggctgtgag tgcacagcag atggaggttt gctgggcaga gacactgggc tggcctagac
     1261 actgcctttg gtgataccct aaaccaaagg ggccagtccc acagtaagaa ggagaccact
     1321 actactcctg ctgccctcct ccccccacct tgcctagttt acaagacagg aggaaagaga
     1381 gaaagcaaaa agttagaaaa caaaacaaaa cagaagtaag ataaatagcc agaagacctt
     1441 ggcgacacca cccggccctg gtagttaaaa aaaagtaaca ataataataa tatcaacccc
     1501 tgacctaaac tacttgtgtt atctgtaaat tccagacatt gtatgaaaaa gcattgcaaa
     1561 actttctgct ctgttagctg atgcgtgtag cccccagtca cgttccccgc ttgcttgaga
     1621 tatcatgacc ctttcacgtg gaccccttag agttgtaagc ctttaaaaag gccaagaatt
     1681 tctttttcag ggatctcagc tattaagatg caagtctgcc aatgctcctg gccaaataaa
     1741 cctcttcctt ctttaa
//
