LOCUS       NM_022787               3734 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens nicotinamide nucleotide adenylyltransferase 1
            (NMNAT1), transcript variant 1, mRNA.
ACCESSION   NM_022787
VERSION     NM_022787.4
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 3734)
  AUTHORS   Kuribayashi,H., Iwagawa,T., Murakami,A., Kawamura,T., Suzuki,Y. and
            Watanabe,S.
  TITLE     NMNAT1 Is Essential for Human iPS Cell Differentiation to the
            Retinal Lineage
  JOURNAL   Invest Ophthalmol Vis Sci 65 (12), 37 (2024)
   PUBMED   39446354
  REMARK    GeneRIF: NMNAT1 Is Essential for Human iPS Cell Differentiation to
            the Retinal Lineage.
REFERENCE   2  (bases 1 to 3734)
  AUTHORS   Huang,H., Wang,S., Xia,H., Zhao,X., Chen,K., Jin,G., Zhou,S.,
            Lu,Z., Chen,T., Yu,H., Zheng,X., Huang,H. and Lan,L.
  TITLE     Lactate enhances NMNAT1 lactylation to sustain nuclear NAD+ salvage
            pathway and promote survival of pancreatic adenocarcinoma cells
            under glucose-deprived conditions
  JOURNAL   Cancer Lett 588, 216806 (2024)
   PUBMED   38467179
  REMARK    GeneRIF: Lactate enhances NMNAT1 lactylation to sustain nuclear
            NAD[+] salvage pathway and promote survival of pancreatic
            adenocarcinoma cells under glucose-deprived conditions.
REFERENCE   3  (bases 1 to 3734)
  AUTHORS   Ali,Y.O., Li-Kroeger,D., Bellen,H.J., Zhai,R.G. and Lu,H.C.
  TITLE     NMNATs, evolutionarily conserved neuronal maintenance factors
  JOURNAL   Trends Neurosci 36 (11), 632-640 (2013)
   PUBMED   23968695
  REMARK    Review article
REFERENCE   4  (bases 1 to 3734)
  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   5  (bases 1 to 3734)
  AUTHORS   Garavaglia,S., D'Angelo,I., Emanuelli,M., Carnevali,F.,
            Pierella,F., Magni,G. and Rizzi,M.
  TITLE     Structure of human NMN adenylyltransferase. A key nuclear enzyme
            for NAD homeostasis
  JOURNAL   J Biol Chem 277 (10), 8524-8530 (2002)
   PUBMED   11751893
  REMARK    GeneRIF: By using a combination of single isomorphous replacement
            and density modification techniques, the human NMNAT structure was
            solved by x-ray crystallography to a 2.5-A resolution, revealing a
            hexamer that is composed of alpha/beta-topology subunits
REFERENCE   6  (bases 1 to 3734)
  AUTHORS   Fernando,F.S., Conforti,L., Tosi,S., Smith,A.D. and Coleman,M.P.
  TITLE     Human homologue of a gene mutated in the slow Wallerian
            degeneration (C57BL/Wld(s)) mouse
  JOURNAL   Gene 284 (1-2), 23-29 (2002)
   PUBMED   11891043
REFERENCE   7  (bases 1 to 3734)
  AUTHORS   Schweiger,M., Hennig,K., Lerner,F., Niere,M., Hirsch-Kauffmann,M.,
            Specht,T., Weise,C., Oei,S.L. and Ziegler,M.
  TITLE     Characterization of recombinant human nicotinamide mononucleotide
            adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD
            synthesis
  JOURNAL   FEBS Lett 492 (1-2), 95-100 (2001)
   PUBMED   11248244
  REMARK    Erratum:[FEBS Lett 2001 May 4;496(1):68]
REFERENCE   8  (bases 1 to 3734)
  AUTHORS   Emanuelli,M., Carnevali,F., Saccucci,F., Pierella,F., Amici,A.,
            Raffaelli,N. and Magni,G.
  TITLE     Molecular cloning, chromosomal localization, tissue mRNA levels,
            bacterial expression, and enzymatic properties of human NMN
            adenylyltransferase
  JOURNAL   J Biol Chem 276 (1), 406-412 (2001)
   PUBMED   11027696
REFERENCE   9  (bases 1 to 3734)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   10 (bases 1 to 3734)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP339298.1 and AL603962.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022787.3.
            
            Summary: This gene encodes an enzyme which catalyzes a key step in
            the biosynthesis of nicotinamide adenine dinucleotide (NAD). The
            encoded enzyme is one of several nicotinamide nucleotide
            adenylyltransferases, and is specifically localized to the cell
            nucleus. Activity of this protein leads to the activation of a
            nuclear deacetylase that functions in the protection of damaged
            neurons. Mutations in this gene have been associated with Leber
            congenital amaurosis 9. Alternative splicing results in multiple
            transcript variants. Pseudogenes of this gene are located on
            chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1 and 2 encode the same 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.
            
            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 :: AK315640.1, SRR1803616.42611.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377205.6/ ENSP00000366410.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-569               BP339298.1         12-580
            570-3734            AL603962.13        11731-14895
FEATURES             Location/Qualifiers
     source          1..3734
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..3734
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /note="nicotinamide nucleotide adenylyltransferase 1"
                     /db_xref="GeneID:64802"
                     /db_xref="HGNC:HGNC:17877"
                     /db_xref="MIM:608700"
     exon            1..41
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /inference="alignment:Splign:2.1.0"
     exon            42..212
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..937
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /EC_number="2.7.7.1"
                     /EC_number="2.7.7.18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyridine nucleotide adenylyltransferase 1; NaMN
                     adenylyltransferase 1; nicotinamide mononucleotide
                     adenylyltransferase 1; NMN adenylyltransferase 1;
                     nicotinate-nucleotide adenylyltransferase 1; NMN/NaMN
                     adenylyltransferase 1; nicotinamide/nicotinic acid
                     mononucleotide adenylyltransferase 1"
                     /codon_start=1
                     /product="nicotinamide/nicotinic acid mononucleotide
                     adenylyltransferase 1 isoform 1"
                     /protein_id="NP_073624.2"
                     /db_xref="CCDS:CCDS108.1"
                     /db_xref="GeneID:64802"
                     /db_xref="HGNC:HGNC:17877"
                     /db_xref="MIM:608700"
                     /translation="MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVV
                     KGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLRHH
                     QEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
                     ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIA
                     NDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAE
                     AKT"
     exon            213..396
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /inference="alignment:Splign:2.1.0"
     exon            397..536
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /inference="alignment:Splign:2.1.0"
     exon            537..3734
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2780..2785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /note="hexamer: AATAAA"
     polyA_site      2809
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /note="major polyA site"
     regulatory      2987..2992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /note="hexamer: AGTAAA"
     polyA_site      3019
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
     regulatory      3716..3721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /note="hexamer: AATAAA"
     polyA_site      3734
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /note="major polyA site"
ORIGIN      
        1 gatctccggt agcactcggg ccggcggaca gtgagggcgc gacaacaagg gaggtgtcac
       61 agttttccat ttagatcaac aacttcaagt tcttaccatg gaaaattccg agaagactga
      121 agtggttctc cttgcttgtg gttcattcaa tcccatcacc aacatgcacc tcaggttgtt
      181 tgagctggcc aaggactaca tgaatggaac aggaaggtac acagttgtca aaggcatcat
      241 ctctcctgtt ggtgatgcct acaagaagaa aggactcatt cctgcctatc accgggtcat
      301 catggcagaa cttgctacca agaattctaa atgggtggaa gttgatacat gggaaagtct
      361 tcagaaggag tggaaagaga ctctgaaggt gctaagacac catcaagaga aattggaggc
      421 tagtgactgt gatcaccagc agaactcacc tactctagaa aggcctggaa ggaagaggaa
      481 gtggactgaa acacaagatt ctagtcaaaa gaaatcccta gagccaaaaa caaaagctgt
      541 gccaaaggtc aagctgctgt gtggggcaga tttattggag tcctttgctg ttcccaattt
      601 gtggaagagt gaagacatca cccaaatcgt ggccaactat gggctcatat gtgttactcg
      661 ggctggaaat gatgctcaga agtttatcta tgaatcggat gtgctgtgga aacaccggag
      721 caacattcac gtggtgaatg aatggatcgc taatgacatc tcatccacaa aaatccggag
      781 agccctcaga aggggccaga gcattcgcta cttggtacca gatcttgtcc aagaatacat
      841 tgaaaagcat aatttgtaca gctctgagag tgaagacagg aatgctgggg tcatcctggc
      901 ccctttgcag agaaacactg cagaagctaa gacataggaa ttctacagca tgatatttca
      961 gacttcccat ttggggatct gaaacaatct gggagttaat aactggggaa agaagttgtg
     1021 atctgttgcc taaactaaag cttaaaagtt tagtaaaaat cgtctgggca cagtggctca
     1081 cgcctgtaat cccagcactt tgggaggctg aggcaggtgg atcacggggt caagagatcg
     1141 agaccatcct ggccaatatg gtgaaacccc atctctacta aaaatacaaa aattagctgt
     1201 gtgtggtggc acgtgcctgt agtcccagct acttgggagg ctgaggcagg agaatcactt
     1261 gaccccaggt ggtggaggtt gcagtgagcc aagattgcac cattgcactc cagcctggcg
     1321 acagagcaag actctgtctc aaaaaaaaaa aaaaatttag taaaaatcaa tggtaagcta
     1381 aaataagttt ttgtttgttt atttgttttt gagatggagt ctctactaaa aatacaaaaa
     1441 attagccagg catggtgccg cataactata atcccagcta cttgggaggc tgaggcagga
     1501 gaatcgcttg aacccgggag gcacaggttc cagtgagcca aggttgtgcc actgcactcc
     1561 agcctgggca aaaaagcaaa actccatctc aaagagaaaa aaaaaaaaga ccgggtgtgg
     1621 tggctcacac ctgtaatccc agcactttgg gaggcctaag tgggtggatc acgtgaggtc
     1681 aagagttcaa gaccagcctg gccaatatgg tgaaacccca tctctactaa gaatacaaaa
     1741 aattagctga gcatggtggt gggctcctgt agtcccagct acttgggagg ctgaggcagg
     1801 agaatcgctt gaacctggga ggcagaggtt gcagtaagcc aagatcgtgc cattgcactc
     1861 cagcctgggt gacagagcga gactccatct caaaaaaaaa aaaaagcctg acagctagca
     1921 ggtttcagga tccatctgcc aagttagtga aaggctggag cctcaaatca tacagatgag
     1981 ggtcattttc tcctccttag cttcttggag tttaagagtt gaaggagtcc tgaaaagtaa
     2041 tgatagagca agatgaagct atcagaactg aatttggact tcctctggga aactacacct
     2101 agttcatctg aagtgtcacg taaactgcag aaagtttcca atgctggaaa cttctctcat
     2161 actatcgtgc cttcctactc agaagtgcct gtgccctgct cagctgtgac tactgacctc
     2221 aggacctcac tggacaaggc atgtggggac ccttgcagga gccctggtaa gggtacaatg
     2281 atcctattgt tttttgtttt tgagatggag tctcactctg tctcccaggc tggagtgcag
     2341 tggtgcgatc tccgctcact gcaacctccg cctcccgggt tcaagcaatt ctcctgcctc
     2401 agcctgctga gtagctggga ttacaggcac ccactaccat gtccggctaa ttttgtattt
     2461 ttagtagaga tggggtttcg ccatgttaga caggctggtc ttgaactcct gacctcaggt
     2521 gatctgccca cctcggcctt ccaaagtgct gggattacag gcatgagcca ctgcacccag
     2581 cctgatccta ttgttgcact atttatggag caacaacttt gtacaaagaa caagctttgt
     2641 acagagaaca agcttggctt tttctcccaa cgccgaggat gctgttgatg ctgccacgta
     2701 atagcataat tttgggtgtc ctcaaggaca gaacttccac tttgaataat ggaagttaga
     2761 acaatgaatt tcacagggga ataaatatta atgactgacg tgaagaaaat atgccattgt
     2821 ttattccctc ctgcatcatt tccataattt gcttttgtac tgtcaattta gaggaaatgt
     2881 gtgatgctgg tgttttgttt ggcctgtttg tttgatgctg ggggttttat gtgttgtacc
     2941 ctttacccct tacattgtgt aatttgaaag tggcaaacaa acctgcagta aaagtccttg
     3001 attggcatct tcattcggat gatggagagc ctttgtggta gtgtttgctt atgtgaacag
     3061 caggcctttc agataagaga agtggctttt ccttggtgat gaaggggtag agattgagcc
     3121 atggggatgg tttaggttaa agaatgcttt tttttggcca tcatgaggat ctaacaacag
     3181 agtagaagga aggatgccct aggtcagcat gcagggtggt gggagggctt tcatcttcct
     3241 tacccaagcc tctcttttca cttttctaga agtccagaag ttgttatatg atgaaatagc
     3301 ctcctttaac gtttatttct gggtgccaac ggaggcccat tcctctaaca ttctcataat
     3361 ttttctcaaa ggcctatgat ctaaacattt caccacggca tccactcagc tgtgaggctg
     3421 cgtacacagt ctccacctct gaaatctgaa cttcgtttac cagtggtgct gtttgaactt
     3481 cataatgtca gcacttcctg aacacttact gtgtgcttgg cttgtgctcc tgagtgcctt
     3541 atatcataag gaaacggcaa aatcagggga ctggtataaa tggtgagctg agcttgaatc
     3601 taagctttgt cttcagagcc agtaccccta atctctcttt ctgtaaaata ttacttttca
     3661 aagaatgaag ttgtagccaa atcttgaaat ttttcattta ccctaagtga ggacaaataa
     3721 agctttcaac aaca
//
