LOCUS       NM_030769               2543 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens N-acetylneuraminate pyruvate lyase (NPL), transcript
            variant 1, mRNA.
ACCESSION   NM_030769
VERSION     NM_030769.3
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 2543)
  AUTHORS   Kentache,T., Thabault,L., Deumer,G., Haufroid,V., Frederick,R.,
            Linster,C.L., Peracchi,A., Veiga-da-Cunha,M., Bommer,G.T. and Van
            Schaftingen,E.
  TITLE     The metalloprotein YhcH is an anomerase providing
            N-acetylneuraminate aldolase with the open form of its substrate
  JOURNAL   J Biol Chem 296, 100699 (2021)
   PUBMED   33895133
REFERENCE   2  (bases 1 to 2543)
  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   3  (bases 1 to 2543)
  AUTHORS   Bergfeld,A.K., Pearce,O.M., Diaz,S.L., Pham,T. and Varki,A.
  TITLE     Metabolism of vertebrate amino sugars with N-glycolyl groups:
            elucidating the intracellular fate of the non-human sialic acid
            N-glycolylneuraminic acid
  JOURNAL   J Biol Chem 287 (34), 28865-28881 (2012)
   PUBMED   22692205
REFERENCE   4  (bases 1 to 2543)
  AUTHORS   Chu,H.Y., Zheng,Q.C., Zhao,Y.S. and Zhang,H.X.
  TITLE     Homology modeling and molecular dynamics study on
            N-acetylneuraminate lyase
  JOURNAL   J Mol Model 15 (3), 323-328 (2009)
   PUBMED   19057931
  REMARK    GeneRIF: 3D structure model of N-acetylneuraminate lyase from human
            (hNAL, EC 4.1.3.3) was created and refined
REFERENCE   5  (bases 1 to 2543)
  AUTHORS   Wu,M., Gu,S., Xu,J., Zou,X., Zheng,H., Jin,Z., Xie,Y., Ji,C. and
            Mao,Y.
  TITLE     A novel splice variant of human gene NPL, mainly expressed in human
            liver, kidney and peripheral blood leukocyte
  JOURNAL   DNA Seq 16 (2), 137-142 (2005)
   PUBMED   16147865
  REMARK    GeneRIF: an NPL splice variant is mainly expressed in human liver,
            kidney and peripheral blood leukocytes
REFERENCE   6  (bases 1 to 2543)
  AUTHORS   Bulai,T., Bratosin,D., Artenie,V. and Montreuil,J.
  TITLE     Characterization of a sialate pyruvate-lyase in the cytosol of
            human erythrocytes
  JOURNAL   Biochimie 84 (7), 655-660 (2002)
   PUBMED   12453637
REFERENCE   7  (bases 1 to 2543)
  AUTHORS   Traving,C., Bruse,P., Wachter,A. and Schauer,R.
  TITLE     The sialate-pyruvate lyase from pig kidney. Elucidation of the
            primary structure and expression of recombinant enzyme activity
  JOURNAL   Eur J Biochem 268 (24), 6473-6486 (2001)
   PUBMED   11737202
REFERENCE   8  (bases 1 to 2543)
  AUTHORS   Sood,R., Bonner,T.I., Makalowska,I., Stephan,D.A., Robbins,C.M.,
            Connors,T.D., Morgenbesser,S.D., Su,K., Faruque,M.U., Pinkett,H.,
            Graham,C., Baxevanis,A.D., Klinger,K.W., Landes,G.M., Trent,J.M.
            and Carpten,J.D.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB961482.1, AK313225.1 and
            AL355999.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 14, 2020 this sequence version replaced NM_030769.2.
            
            Summary: This gene encodes a member of the N-acetylneuraminate
            lyase sub-family of (beta/alpha)(8)-barrel enzymes.
            N-acetylneuraminate lyases regulate cellular concentrations of
            N-acetyl-neuraminic acid (sialic acid) by mediating the reversible
            conversion of sialic acid into N-acetylmannosamine and pyruvate. A
            pseudogene of this gene is located on the short arm of chromosome
            2. Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Jan
            2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.147797.1, AK313225.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367553.6/ ENSP00000356524.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                CB961482.1         508-531
            25-882              AK313225.1         48-905
            883-2543            AL355999.9         20349-22009
FEATURES             Location/Qualifiers
     source          1..2543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..2543
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /note="N-acetylneuraminate pyruvate lyase"
                     /db_xref="GeneID:80896"
                     /db_xref="HGNC:HGNC:16781"
                     /db_xref="MIM:611412"
     exon            1..33
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            34..88
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            89..172
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1067
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /EC_number="4.1.3.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydrodipicolinate synthetase homolog 1; NALase; sialic
                     acid aldolase; sialate-pyruvate lyase; N-acetylneuraminic
                     acid aldolase; N-acetylneuraminate pyruvate lyase
                     (dihydrodipicolinate synthase)"
                     /codon_start=1
                     /product="N-acetylneuraminate lyase isoform 1"
                     /protein_id="NP_110396.1"
                     /db_xref="CCDS:CCDS1350.1"
                     /db_xref="GeneID:80896"
                     /db_xref="HGNC:HGNC:16781"
                     /db_xref="MIM:611412"
                     /translation="MAFPKKKLQGLVAATITPMTENGEINFSVIGQYVDYLVKEQGVK
                     NIFVNGTTGEGLSLSVSERRQVAEEWVTKGKDKLDQVIIHVGALSLKESQELAQHAAE
                     IGADGIAVIAPFFLKPWTKDILINFLKEVAAAAPALPFYYYHIPALTGVKIRAEELLD
                     GILDKIPTFQGLKFSDTDLLDFGQCVDQNRQQQFAFLFGVDEQLLSALVMGATGAVGS
                     TYNYLGKKTNQMLEAFEQKDFSLALNYQFCIQRFINFVVKLGFGVSQTKAIMTLVSGI
                     PMGPPRLPLQKASREFTDSAEAKLKSLDFLSFTDLKDGNLEAGS"
     exon            173..246
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            247..334
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            335..392
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            393..468
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            469..561
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            562..710
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            711..757
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            758..842
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            843..882
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            883..2543
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2268..2273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /note="hexamer: AATAAA"
     polyA_site      2291
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /note="major polyA site"
     regulatory      2520..2525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /note="hexamer: AATAAA"
     polyA_site      2543
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /note="major polyA site"
ORIGIN      
        1 ggagcggctg cacggacaag agcggaggcc tggaagggga aactgaagca gaaagaggtt
       61 acttaatggg ctcaaggtca cctacctgac ctaccagcag ctcaatggcc ttcccaaaga
      121 agaaacttca gggtcttgtg gctgcaacca tcacgccaat gactgagaat ggagaaatca
      181 acttttcagt aattggtcag tatgtggatt atcttgtgaa agaacaggga gtgaagaaca
      241 tttttgtgaa tggcacaaca ggagaaggcc tgtccctgag cgtctcagag cgtcgccagg
      301 ttgcagagga gtgggtgaca aaagggaagg acaagctgga tcaggtgata attcacgtag
      361 gagcactgag cttgaaggag tcacaggaac tggcccaaca tgcagcagaa ataggagctg
      421 atggcatcgc tgtcattgca ccgttcttcc tcaagccatg gaccaaagat atcctgatta
      481 atttcctaaa ggaagtggct gctgccgccc ctgccctgcc attttattac tatcacattc
      541 ctgccttgac aggggtaaag attcgtgctg aggagttgtt ggatgggatt ctggataaga
      601 tccccacctt ccaagggctg aaattcagtg atacagatct cttagacttc gggcaatgtg
      661 ttgatcagaa tcgccagcaa cagtttgctt tcctttttgg ggtggatgag caactgttga
      721 gtgctctggt gatgggagca actggagcag tgggcagtac ctataactac ctgggaaaaa
      781 agacaaacca gatgttggag gcttttgaac aaaaggactt ctctttagcc ctgaactatc
      841 agttttgtat ccagagattt atcaactttg ttgtcaaact aggttttgga gtgtcacaga
      901 ccaaagccat catgactctg gtctctggga ttccaatggg cccaccccgg cttccactgc
      961 agaaagcctc cagggagttt actgatagtg ctgaagctaa actgaagagc ctggatttcc
     1021 tttctttcac tgatttaaag gatggaaact tggaagctgg tagctagtgc ctctctatca
     1081 aatcagggtt tgcaccttga gacataatct accttaaata gtgcattttt ttctcaggga
     1141 attttagatg aacttgaata aactctccta gcaaatgaaa tctcacaata agcattgagg
     1201 taccttttgt gagccttaaa aagtcttatt ttgtgaaggg gcaaaaactc taggagtcac
     1261 aactctcagt cattcatttc acagattttt ttgtggagaa atttctgttt atatggatga
     1321 aatggaatca agaggaaaat tgtaattgat taattccatc tgtctttagg agctctcatt
     1381 atctcggtct ctggttccta atcctatttt aaagttgtct aattttaaac cactataata
     1441 tgtcttcatt ttaataaata ttcatttgga atctaggaaa actctgagct actgcattta
     1501 ggcaggcact ttaataccaa actgtaacat gtctcaactg tatacaactc aaaatacacc
     1561 agctcatttg gctgctcagt ctaactctag aatggatgct tttgaattca tttcgatgtc
     1621 accacttttc gctctttaaa aacactgggt caggtgagga cttgtttcag ttcctataac
     1681 taagtaaagg gcggctttct cataacaaag gaaaaagtct tccccaaaga tgaatttaag
     1741 tctccacttt tttctataca gaaaactcaa aactcaaagt ttcaaagaac caaaggactc
     1801 ttcctctggg caccacaaac ttccccttcc tccactgaga agactgtctc tcccgcagga
     1861 ccctgaatta ttgaaatcga aggctgactt cctttctgca gtgagcccag gggctaatgt
     1921 tattatcctg tcacacttgc aactagtgac ttttgtttag tgatagaaga tttggggagg
     1981 acccaaagga ctcagaactt tctctccata cctcctttta ctcttttctt tctgtgtaat
     2041 gtatcaacaa ctgtttaatc tcccttctaa caaaccttga tataagcttt ctgatatcaa
     2101 agtatattga cagttaaccc ttactgattt taaacttgac tatccagtct gttaattacc
     2161 taagattttg ttttcatttc atctctaatt gttttgatca ttggcagaga aagagtattt
     2221 gaaattcata tcagttttgc tccttatttt aatctctttg aattaaaaat aaaacttttt
     2281 caaaatggaa atttgaaatt ataagtagac ttcaattatc tttgctaatc ctctctttaa
     2341 ttagtcagct agttaaaagt tgttatattc atatatcctc aaccctcttt ttgcctttgt
     2401 agcttttaat ttcctgaaag aagaaaatga gttgttcgtt tttggttctg aggatgtgat
     2461 atccgtactt actgatacta aagccaaatt taaattctaa aattaattct tgggtatcca
     2521 ataaacaaag aactattttt cta
//
