LOCUS       NM_018161               2679 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.
ACCESSION   NM_018161
VERSION     NM_018161.5
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 2679)
  AUTHORS   Szot,J.O., Cuny,H., Martin,E.M., Sheng,D.Z., Iyer,K., Portelli,S.,
            Nguyen,V., Gereis,J.M., Alankarage,D., Chitayat,D., Chong,K.,
            Wentzensen,I.M., Vincent-Delorme,C., Lermine,A., Burkitt-Wright,E.,
            Ji,W., Jeffries,L., Pais,L.S., Tan,T.Y., Pitt,J., Wise,C.A.,
            Wright,H., Andrews,I.D., Pruniski,B., Grebe,T.A.,
            Corsten-Janssen,N., Bouman,K., Poulton,C., Prakash,S., Keren,B.,
            Brown,N.J., Hunter,M.F., Heath,O., Lakhani,S.A., McDermott,J.H.,
            Ascher,D.B., Chapman,G., Bozon,K. and Dunwoodie,S.L.
  TITLE     A metabolic signature for NADSYN1-dependent congenital NAD
            deficiency disorder
  JOURNAL   J Clin Invest 134 (4), e174824 (2024)
   PUBMED   38357931
  REMARK    GeneRIF: A metabolic signature for NADSYN1-dependent congenital NAD
            deficiency disorder.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2679)
  AUTHORS   Aubert-Mucca,M., Janel,C., Porquet-Bordes,V., Patat,O.,
            Touraine,R., Edouard,T., Michot,C., Tessier,A., Cormier-Daire,V.,
            Attie-Bitach,T. and Baujat,G.
  TITLE     Clinical heterogeneity of NADSYN1-associated VCRL syndrome
  JOURNAL   Clin Genet 104 (1), 114-120 (2023)
   PUBMED   36951206
  REMARK    GeneRIF: Clinical heterogeneity of NADSYN1-associated VCRL
            syndrome.
REFERENCE   3  (bases 1 to 2679)
  AUTHORS   Kortbawi,H., Ames,E., Pritchard,A., Devine,P., van Ziffle,J. and
            Slavotinek,A.
  TITLE     Further description of two patients with biallelic variants in
            NADSYN1 in association with cardiac and vertebral anomalies
  JOURNAL   Am J Med Genet A 188 (8), 2479-2484 (2022)
   PUBMED   35491967
  REMARK    GeneRIF: Further description of two patients with biallelic
            variants in NADSYN1 in association with cardiac and vertebral
            anomalies.
REFERENCE   4  (bases 1 to 2679)
  AUTHORS   Alaylioglu,M., Dursun,E., Genc,G., Sengul,B., Bilgic,B., Gunduz,A.,
            Apaydin,H., Kiziltan,G., Gurvit,H., Hanagasi,H., Oztop Cakmak,O.,
            Ertan,S., Yilmazer,S. and Gezen-Ak,D.
  TITLE     Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1
            locus and CYP2R1 gene are associated with clinical features of
            Parkinson's disease
  JOURNAL   Int J Neurosci 132 (5), 439-449 (2022)
   PUBMED   32938288
  REMARK    GeneRIF: Genetic variants of vitamin D metabolism-related
            DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical
            features of Parkinson's disease.
REFERENCE   5  (bases 1 to 2679)
  AUTHORS   Lin,J., Zhao,L., Zhao,S., Li,S., Zhao,Z., Chen,Z., Zheng,Z.,
            Shao,J., Niu,Y., Li,X., Zhang,J.T., Wu,Z. and Wu,N.
  TITLE     Disruptive NADSYN1 Variants Implicated in Congenital Vertebral
            Malformations
  JOURNAL   Genes (Basel) 12 (10), 1615 (2021)
   PUBMED   34681008
  REMARK    GeneRIF: Disruptive NADSYN1 Variants Implicated in Congenital
            Vertebral Malformations.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2679)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 2679)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (bases 1 to 2679)
  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   9  (bases 1 to 2679)
  AUTHORS   Hara,N., Yamada,K., Terashima,M., Osago,H., Shimoyama,M. and
            Tsuchiya,M.
  TITLE     Molecular identification of human glutamine- and ammonia-dependent
            NAD synthetases. Carbon-nitrogen hydrolase domain confers glutamine
            dependency
  JOURNAL   J Biol Chem 278 (13), 10914-10921 (2003)
   PUBMED   12547821
  REMARK    Erratum:[J Biol Chem. 2003 Oct 17;278(42):41572]
REFERENCE   10 (bases 1 to 2679)
  AUTHORS   Mark,P. and Dunwoodie,S.
  TITLE     Congenital NAD Deficiency Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37499065
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI460954.1, AK022436.1, BE730392.1, BC020977.1, BM554316.1,
            AW804480.1 and AP000867.5.
            
            On May 17, 2019 this sequence version replaced NM_018161.4.
            
            Summary: Nicotinamide adenine dinucleotide (NAD) is a coenzyme in
            metabolic redox reactions, a precursor for several cell signaling
            molecules, and a substrate for protein posttranslational
            modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step
            in the biosynthesis of NAD from nicotinic acid adenine dinucleotide
            (NaAD).[supplied by OMIM, Apr 2004].
            
            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 :: AK022436.1, BC003638.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319023.7/ ENSP00000326424.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-313               BI460954.1         21-333
            314-705             AK022436.1         316-707
            706-728             BE730392.1         670-692
            729-798             BC020977.1         535-604
            799-832             BM554316.1         777-810
            833-864             AW804480.1         219-250
            865-2401            AK022436.1         867-2403
            2402-2679           AP000867.5         29436-29713
FEATURES             Location/Qualifiers
     source          1..2679
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..2679
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /note="NAD synthetase 1"
                     /db_xref="GeneID:55191"
                     /db_xref="HGNC:HGNC:29832"
                     /db_xref="MIM:608285"
     exon            1..179
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..2215
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /EC_number="6.3.5.1"
                     /note="glutamine-dependent NAD synthetase; NAD(+)
                     synthetase; NAD(+) synthase"
                     /codon_start=1
                     /product="glutamine-dependent NAD(+) synthetase"
                     /protein_id="NP_060631.2"
                     /db_xref="CCDS:CCDS8201.1"
                     /db_xref="GeneID:55191"
                     /db_xref="HGNC:HGNC:29832"
                     /db_xref="MIM:608285"
                     /translation="MGRKVTVATCALNQWALDFEGNLQRILKSIEIAKNRGARYRLGP
                     ELEICGYGCWDHYYESDTLLHSFQVLAALVESPVTQDIICDVGMPVMHRNVRYNCRVI
                     FLNRKILLIRPKMALANEGNYRELRWFTPWSRSRHTEEYFLPRMIQDLTKQETVPFGD
                     AVLVTWDTCIGSEICEELWTPHSPHIDMGLDGVEIITNASGSHQVLRKANTRVDLVTM
                     VTSKNGGIYLLANQKGCDGDRLYYDGCAMIAMNGSVFAQGSQFSLDDVEVLTATLDLE
                     DVRSYRAEISSRNLAASRASPYPRVKVDFALSCHEDLLAPISEPIEWKYHSPEEEISL
                     GPACWLWDFLRRSQQAGFLLPLSGGVDSAATACLIYSMCCQVCEAVRSGNEEVLADVR
                     TIVNQISYTPQDPRDLCGRILTTCYMASKNSSQETCTRARELAQQIGSHHISLNIDPA
                     VKAVMGIFSLVTGKSPLFAAHGGSSRENLALQNVQARIRMVLAYLFAQLSLWSRGVHG
                     GLLVLGSANVDESLLGYLTKYDCSSADINPIGGISKTDLRAFVQFCIQRFQLPALQSI
                     LLAPATAELEPLADGQVSQTDEEDMGMTYAELSVYGKLRKVAKMGPYSMFCKLLGMWR
                     HICTPRQVADKVKRFFSKYSMNRHKMTTLTPAYHAENYSPEDNRFDLRPFLYNTSWPW
                     QFRCIENQVLQLERAEPQSLDGVD"
     exon            180..240
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            241..357
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            358..411
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            412..501
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            502..553
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            554..642
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            643..760
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            761..892
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            893..967
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1092
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1141
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1244
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1413
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1549
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1656
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1788
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..1858
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1859..1987
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1988..2164
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2165..2679
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2381..2386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /note="hexamer: AATAAA"
     polyA_site      2404
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /note="major polyA site"
ORIGIN      
        1 aacccggaag gtccggcgtc ccagccgcct acctcgctgg gaccctggtc ttgctgtccc
       61 ccgctggcct cctgcccaag cgactgcggc caggatgggc cggaaggtga ccgtggccac
      121 ctgcgcactc aaccagtggg ccctggactt cgagggcaat ttgcaaagaa ttttaaagag
      181 tattgaaatt gccaaaaaca gaggagcaag atacaggctt ggaccagagc tggaaatatg
      241 cggctacgga tgttgggatc attattacga gtcggacacc ctcttgcact cgtttcaagt
      301 cctagcggcc cttgtggagt ctcccgtcac tcaggacatc atctgcgacg tggggatgcc
      361 tgtaatgcac cgaaacgtcc gctacaactg cagagtgata ttcctcaaca ggaagatcct
      421 gctcatcaga cccaagatgg ccttggccaa tgaaggcaac taccgcgagc tgcgctggtt
      481 caccccgtgg tcgaggagtc ggcacacaga ggagtacttt ctgcctcgga tgatacagga
      541 cctgacaaag caggaaaccg tacccttcgg agatgcggtg ctggtgacat gggacacctg
      601 cattggaagt gagatctgtg aggagctctg gacaccccac agcccgcaca tcgacatggg
      661 cctggatggc gtggagatca tcaccaacgc ctcgggcagc caccaagtgc tgcgcaaagc
      721 caacaccagg gtggatctcg tgactatggt caccagcaag aacggtggga tttacttgct
      781 ggccaaccag aagggttgtg acggggaccg cctgtactac gacggctgtg ccatgattgc
      841 catgaacgga agcgtctttg ctcaaggatc ccagttttct ctggatgacg tggaagtcct
      901 gacggccacg ctggatctgg aggacgtccg gagctacagg gcggagattt catctcgaaa
      961 cctggcggcc agcagggcga gcccctaccc cagagtgaag gtggactttg ccctctcgtg
     1021 ccacgaggac ttgctggcac ccatctctga gcccatcgag tggaaatacc acagccctga
     1081 ggaggagata agccttggac ctgcctgctg gctctgggat tttttaagac gaagtcaaca
     1141 ggcagggttt ttgctgccct tgagtggcgg ggtggacagc gcagccaccg cctgcctcat
     1201 ctactccatg tgctgccagg tctgcgaggc cgtgaggagt ggaaatgagg aagtgctggc
     1261 tgatgtccgc accatcgtga accagatcag ctacaccccc caggatcccc gagacctctg
     1321 tggacgcata ctgaccacct gctacatggc cagcaagaac tcctcccagg agacgtgcac
     1381 ccgggccaga gagttggccc agcagattgg aagccaccac atcagtctca acatcgatcc
     1441 agccgtgaag gccgtcatgg gcatcttcag cctggtgacg gggaagagcc ctctgtttgc
     1501 agctcatgga ggaagcagca gggaaaacct ggcgctgcaa aatgtgcagg ctcgaatacg
     1561 gatggtcctc gcctatctgt ttgctcagtt gagcctctgg tctcggggtg tccacggtgg
     1621 gctcctcgtg ctgggatccg ccaacgtgga tgagagtctc ctgggctacc tgaccaagta
     1681 cgactgctcc agtgcggaca tcaaccccat aggcgggatc agcaagacgg acctcagggc
     1741 cttcgtccag ttctgcatcc agcgcttcca gcttcctgcc ctgcagagca tcctgttggc
     1801 gccggccacc gcagagctgg agcccttggc tgatggacag gtgtcccaga ccgacgagga
     1861 agatatgggg atgacatatg cggagctctc ggtctatggg aaactcagga aggtggccaa
     1921 gatggggccc tacagcatgt tctgcaaact cctcggcatg tggagacaca tctgcacccc
     1981 gagacaggtc gctgacaaag tgaagcggtt tttctccaag tactccatga acagacacaa
     2041 gatgaccacg ctcacacccg cgtaccacgc cgagaactac agccctgagg acaacaggtt
     2101 tgatctgcga ccatttctgt acaacacaag ctggccttgg cagtttcggt gcatagaaaa
     2161 tcaggtgcta cagctcgaga gggcagagcc acagtccctg gacggcgtgg actgaggccg
     2221 gttccttcct ggaggcctcc tgtcctcggg gaccccagca cctcatcatc agcattgctg
     2281 gagccaaggg taggagccct acactaggag cccaggatgg gacggcgcat cagccgagag
     2341 ggagggaact tttcagtcaa attcctcaaa aagaggctgg aataaagcct gggcttaaaa
     2401 agaggctgga atccaatgca catgattttg acctcccgcc agcgtgcgct tccccgcgaa
     2461 gtctggcatt ctccgaagga agccgcctgg gtaggagggt tccaaccgcc gccccgtgtg
     2521 gcatctttgc tgcaggaaca agaacagtag ctcccgggaa gggaggggtg tcatgagcag
     2581 aaaatgaagg agagaagacc ttctctccca cccacacaca ccttcctgtc ctgggttcca
     2641 gaaggttctg gggagatggt ccctgcagag ctttcttcc
//
