LOCUS       NM_014298               2200 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens quinolinate phosphoribosyltransferase (QPRT),
            transcript variant 1, mRNA.
ACCESSION   NM_014298
VERSION     NM_014298.6
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 2200)
  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 2200)
  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 2200)
  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 2200)
  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 2200)
  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 2200)
  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 2200)
  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 2200)
  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 2200)
  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 2200)
  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_014298.5.
            
            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 (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 :: SRR11853567.11404.1,
                                           SRR18074969.1692033.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395384.9/ ENSP00000378782.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC009086.6         189304-189334
            32-567              AC009133.7         170190-170725       c
            568-699             AC009133.7         168262-168393       c
            700-2200            AC009133.7         166690-168190       c
FEATURES             Location/Qualifiers
     source          1..2200
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2200
                     /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..912
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /EC_number="2.4.2.19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nicotinate-nucleotide pyrophosphorylase (carboxylating);
                     epididymis secretory sperm binding protein Li 90n"
                     /codon_start=1
                     /product="nicotinate-nucleotide pyrophosphorylase
                     [carboxylating] isoform 1"
                     /protein_id="NP_055113.3"
                     /db_xref="CCDS:CCDS10651.1"
                     /db_xref="GeneID:23475"
                     /db_xref="HGNC:HGNC:9755"
                     /db_xref="MIM:606248"
                     /translation="MDAEGLALLLPPVTLAALVDSWLREDCPGLNYAALVSGAGPSQA
                     ALWAKSPGVLAGQPFFDAIFTQLNCQVSWFLPEGSKLVPVARVAEVRGPAHCLLLGER
                     VALNTLARCSGIASAAAAAVEAARGAGWTGHVAGTRKTTPGFRLVEKYGLLVGGAASH
                     RYDLGGLVMVKDNHVVAAGGVEKAVRAARQAADFTLKVEVECSSLQEAVQAAEAGADL
                     VLLDNFKPEELHPTATVLKAQFPSVAVEASGGITLDNLPQFCGPHIDVISMGMLTQAA
                     PALDFSLKLFAKEVAPVPKIH"
     exon            32..567
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     exon            568..699
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     exon            700..2200
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1122..1127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="hexamer: AATAAA"
     polyA_site      1139
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="major polyA site"
     regulatory      2179..2184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /note="hexamer: AATAAA"
     polyA_site      2200
                     /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 ttggtcagcg gggcaggccc ctcgcaggcg gcgctgtggg ccaaatcccc tggggtactg
      181 gcagggcagc ctttcttcga tgccatattt acccaactca actgccaagt ctcctggttc
      241 ctccccgagg gatcgaagct ggtgccggtg gccagagtgg ccgaggtccg gggccctgcc
      301 cactgcctgc tgctggggga acgggtggcc ctcaacacgc tggcccgctg cagtggcatt
      361 gccagtgctg ccgccgctgc agtggaggcc gccagggggg ccggctggac tgggcacgtg
      421 gcaggcacga ggaagaccac gccaggcttc cggctggtgg agaagtatgg gctcctggtg
      481 ggcggggccg cctcgcaccg ctacgacctg ggagggctgg tgatggtgaa ggataaccat
      541 gtggtggccg ccggtggcgt ggagaaggcg gtgcgggcgg ccagacaggc ggctgacttc
      601 actctgaagg tggaagtgga atgcagcagc ctgcaggagg ccgtgcaggc agctgaggct
      661 ggtgccgacc ttgtcctgct ggacaacttc aagccagagg agctgcaccc cacggccacc
      721 gtgctgaagg cccagttccc gagtgtggct gtggaagcca gtgggggcat caccctggac
      781 aacctccccc agttctgcgg gccgcacata gacgtcatct ccatggggat gctgacccag
      841 gcggccccag cccttgattt ctccctcaag ctgtttgcca aagaggtggc tccagtgccc
      901 aaaatccact agtcctaaac cggaagagga tgacaccggc catgggttaa cgtggctcct
      961 caggaccctc tgggtcacac atctttaggg tcagtggcca atggggcaca tttggcacta
     1021 gcttgagccc aactctggct ctgccacctg ctgctcctgt gacctgtcag ggctgacttc
     1081 acctctgctc atctcagttt cctaatctgt aaaatgggtc taataaagga tcaaccacat
     1141 ggggttctgc ggtgataatg agcacatagt gaggggtcag caaatgtcag aagttacctg
     1201 ggacagccgg gcacgatggc tcacacctgt aatcccagca ctttgggagg ctgaggcggg
     1261 aagatcactt gagttcagga gtttgagacc agcctggcca acatggtgaa accccatctc
     1321 taccaaaaat agaagaatta gctgggtgtg gtggcacgcg cctgtaatcc cagctactta
     1381 ggaggctgag gcaggagaat cgcttgaacc caggaagtgg aggttgcagt gagctgatgg
     1441 tgccactgca ctccagcctg ggtgatagag cgagactctg tctccaaaga agaaacaaag
     1501 gaaagaaaga gagaaagaga gagggaggga gggagggagg gaaaggaagg atggaaagaa
     1561 aggaagaaag gcaggcaaaa gccccagaca ggccaaaacc ttcatccttc atgcacccaa
     1621 cctgtaccaa acaccagcat ggcctggctg tgagtgcaca gcagatggag gtttgctggg
     1681 cagagacact gggctggcct agacactgcc tttggtgata ccctaaacca aaggggccag
     1741 tcccacagta agaaggagac cactactact cctgctgccc tcctcccccc accttgccta
     1801 gtttacaaga caggaggaaa gagagaaagc aaaaagttag aaaacaaaac aaaacagaag
     1861 taagataaat agccagaaga ccttggcgac accacccggc cctggtagtt aaaaaaaagt
     1921 aacaataata ataatatcaa cccctgacct aaactacttg tgttatctgt aaattccaga
     1981 cattgtatga aaaagcattg caaaactttc tgctctgtta gctgatgcgt gtagccccca
     2041 gtcacgttcc ccgcttgctt gagatatcat gaccctttca cgtggacccc ttagagttgt
     2101 aagcctttaa aaaggccaag aatttctttt tcagggatct cagctattaa gatgcaagtc
     2161 tgccaatgct cctggccaaa taaacctctt ccttctttaa
//
