LOCUS       NP_060631                706 aa            linear   PRI 27-APR-2025
DEFINITION  glutamine-dependent NAD(+) synthetase [Homo sapiens].
ACCESSION   NP_060631
VERSION     NP_060631.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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  (residues 1 to 706)
  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 (residues 1 to 706)
  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 Jan 30, 2004 this sequence version replaced NP_060631.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..706
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..706
                     /product="glutamine-dependent NAD(+) synthetase"
                     /EC_number="6.3.5.1"
                     /note="glutamine-dependent NAD synthetase; NAD(+)
                     synthetase; NAD(+) synthase"
                     /calculated_mol_wt=79154
     Region          3..699
                     /region_name="PLN02339"
                     /note="NAD+ synthase (glutamine-hydrolysing)"
                     /db_xref="CDD:177973"
     Region          325..706
                     /region_name="Ligase. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IA69.3)"
     CDS             1..706
                     /gene="NADSYN1"
                     /gene_synonym="VCRL3"
                     /coded_by="NM_018161.5:95..2215"
                     /db_xref="CCDS:CCDS8201.1"
                     /db_xref="GeneID:55191"
                     /db_xref="HGNC:HGNC:29832"
                     /db_xref="MIM:608285"
ORIGIN      
        1 mgrkvtvatc alnqwaldfe gnlqrilksi eiaknrgary rlgpeleicg ygcwdhyyes
       61 dtllhsfqvl aalvespvtq diicdvgmpv mhrnvryncr viflnrkill irpkmalane
      121 gnyrelrwft pwsrsrhtee yflprmiqdl tkqetvpfgd avlvtwdtci gseiceelwt
      181 phsphidmgl dgveiitnas gshqvlrkan trvdlvtmvt sknggiylla nqkgcdgdrl
      241 yydgcamiam ngsvfaqgsq fslddvevlt atldledvrs yraeissrnl aasraspypr
      301 vkvdfalsch edllapisep iewkyhspee eislgpacwl wdflrrsqqa gfllplsggv
      361 dsaatacliy smccqvceav rsgneevlad vrtivnqisy tpqdprdlcg rilttcymas
      421 knssqetctr arelaqqigs hhislnidpa vkavmgifsl vtgksplfaa hggssrenla
      481 lqnvqarirm vlaylfaqls lwsrgvhggl lvlgsanvde sllgyltkyd cssadinpig
      541 gisktdlraf vqfciqrfql palqsillap ataeleplad gqvsqtdeed mgmtyaelsv
      601 ygklrkvakm gpysmfckll gmwrhictpr qvadkvkrff skysmnrhkm ttltpayhae
      661 nyspednrfd lrpflyntsw pwqfrcienq vlqleraepq sldgvd
//
