LOCUS       NM_001113374            1767 bp    mRNA    linear   ROD 04-AUG-2023
DEFINITION  Mus musculus molybdenum cofactor synthesis 2 (Mocs2), transcript
            variant 2, mRNA.
ACCESSION   NM_001113374
VERSION     NM_001113374.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1767)
  AUTHORS   Reiss J.
  TITLE     Molybdenum cofactor deficiency type B knock-in mouse models
            carrying patient-identical mutations and their rescue by singular
            AAV injections
  JOURNAL   Hum Genet 138 (4), 355-361 (2019)
   PUBMED   30810871
REFERENCE   2  (bases 1 to 1767)
  AUTHORS   Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK,
            Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L,
            Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre
            JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A,
            Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ,
            Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall
            S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA,
            Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR,
            Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana
            S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG,
            Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC,
            Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL,
            de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown
            SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray
            SA.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450]
REFERENCE   3  (bases 1 to 1767)
  AUTHORS   Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A,
            Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J and Smorag L.
  TITLE     Mouse model for molybdenum cofactor deficiency type B recapitulates
            the phenotype observed in molybdenum cofactor deficient patients
  JOURNAL   Hum Genet 135 (7), 813-826 (2016)
   PUBMED   27138983
  REMARK    GeneRIF: Mocs2-deficient mice recapitulate the severe phenotype
            observed in humans and can now serve as a model for preclinical
            therapeutic approaches for MoCo deficiency type B.
REFERENCE   4  (bases 1 to 1767)
  AUTHORS   Sansom SN, Griffiths DS, Faedo A, Kleinjan DJ, Ruan Y, Smith J, van
            Heyningen V, Rubenstein JL and Livesey FJ.
  TITLE     The level of the transcription factor Pax6 is essential for
            controlling the balance between neural stem cell self-renewal and
            neurogenesis
  JOURNAL   PLoS Genet 5 (6), e1000511 (2009)
   PUBMED   19521500
REFERENCE   5  (bases 1 to 1767)
  AUTHORS   Matthies A, Rajagopalan KV, Mendel RR and Leimkuhler S.
  TITLE     Evidence for the physiological role of a rhodanese-like protein for
            the biosynthesis of the molybdenum cofactor in humans
  JOURNAL   Proc Natl Acad Sci U S A 101 (16), 5946-5951 (2004)
   PUBMED   15073332
REFERENCE   6  (bases 1 to 1767)
  AUTHORS   Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV and Mendel RR.
  TITLE     Mechanistic studies of human molybdopterin synthase reaction and
            characterization of mutants identified in group B patients of
            molybdenum cofactor deficiency
  JOURNAL   J Biol Chem 278 (28), 26127-26134 (2003)
   PUBMED   12732628
REFERENCE   7  (bases 1 to 1767)
  AUTHORS   Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S,
            Bono H, Okazaki Y and Hayashizaki Y.
  TITLE     Protein-protein interaction panel using mouse full-length cDNAs
  JOURNAL   Genome Res 11 (10), 1758-1765 (2001)
   PUBMED   11591653
REFERENCE   8  (bases 1 to 1767)
  AUTHORS   Stallmeyer B, Drugeon G, Reiss J, Haenni AL and Mendel RR.
  TITLE     Human molybdopterin synthase gene: identification of a bicistronic
            transcript with overlapping reading frames
  JOURNAL   Am J Hum Genet 64 (3), 698-705 (1999)
   PUBMED   10053003
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CT025598.9 and AK002719.1.
            
            [WARNING] On Dec 7, 2023 this sequence was replaced by
            NM_001113374.2.
            
            Summary: Eukaryotic molybdoenzymes use a unique molybdenum cofactor
            (MoCo) consisting of a pterin, termed molybdopterin, and the
            catalytically active metal molybdenum. MoCo is synthesized from
            precursor Z by the heterodimeric enzyme molybdopterin synthase. The
            large and small subunits of molybdopterin synthase are both encoded
            from this gene by overlapping open reading frames. The proteins
            were initially thought to be encoded from a bicistronic transcript.
            Based on experiments with the human molybdopterin synthase
            ortholog, they are now thought to be encoded from monocistronic
            transcripts. Alternatively spliced transcripts have been found for
            this locus that encode the large and small subunits. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' end, compared to variant 1, and encodes the large subunit
            (Mocs2B).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004631.1, AK002719.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                CT025598.9         18033-18065
            34-1069             AK002719.1         2-1037
            1070-1767           CT025598.9         28519-29216
FEATURES             Location/Qualifiers
     source          1..1767
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="13"
                     /map="13 64.61 cM"
     gene            1..1767
                     /gene="Mocs2"
                     /note="molybdenum cofactor synthesis 2"
                     /db_xref="GeneID:17434"
                     /db_xref="MGI:MGI:1336894"
     exon            1..87
                     /gene="Mocs2"
                     /inference="alignment:Splign:2.1.0"
     exon            88..232
                     /gene="Mocs2"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..704
                     /gene="Mocs2"
                     /EC_number="2.8.1.12"
                     /note="isoform Mocs2B is encoded by transcript variant 2;
                     molybdenum cofactor synthesis protein 2B; molybdopterin
                     synthase sulfur carrier subunit; MOCS2B; molybdenum
                     cofactor synthesis protein 2 large subunit"
                     /codon_start=1
                     /product="molybdopterin synthase sulfur carrier subunit
                     isoform Mocs2B"
                     /protein_id="NP_001106845.1"
                     /db_xref="CCDS:CCDS49371.1"
                     /db_xref="GeneID:17434"
                     /db_xref="MGI:MGI:1336894"
                     /translation="MSSLEISNSCFSPEMRLPSSRQSVEDNASEPSGKDVDDVQEKPK
                     DIIQFTAEKLSVGEVSQLVVSPLCGAVSLFVGTTRNNFEGKKVISLEYEAYVPMAENE
                     IRKICNDIRQKWPVRHIAVFHRLGLVPVSEASTVIAVSSAHRAASLEAVSYAIDSLKA
                     KVPIWKKEIYEESTSSWKRNKECFWAAGD"
     exon            233..360
                     /gene="Mocs2"
                     /inference="alignment:Splign:2.1.0"
     exon            361..511
                     /gene="Mocs2"
                     /inference="alignment:Splign:2.1.0"
     exon            512..635
                     /gene="Mocs2"
                     /inference="alignment:Splign:2.1.0"
     exon            636..1767
                     /gene="Mocs2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1048..1053
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mocs2"
                     /note="putative"
     polyA_site      1069
                     /gene="Mocs2"
                     /note="putative"
ORIGIN      
        1 gctgcgcatg cgctctgagt caccggcgcc tctaggggtt ggagaactgg cttcgcggtg
       61 tgtagcggga tggttcctag gtgccaggtt ggctgatgtt agaaaccagg tgatatttgc
      121 tgttcgtcaa gagtatgtcg agcttggaga tcagcaactc ctgcttcagc ccggagatga
      181 ggttgccatc atcccgccaa tcagtggagg ataatgcatc tgagccatct gggaaagatg
      241 tggacgatgt ccaggagaaa cctaaagaca taatacagtt cactgccgag aagctctctg
      301 tgggggaagt gtcacagttg gtggtgtccc ctctgtgtgg tgcagtgtct ctctttgtag
      361 ggactacaag aaataacttt gaaggcaaga aagtcattag cttagaatat gaagcgtatg
      421 taccgatggc agaaaatgaa atcagaaaaa tttgtaatga cattagacag aaatggcccg
      481 tgagacacat agcagtattc catcggcttg gtttggttcc agtgtcagaa gcaagcacag
      541 ttattgctgt gtcttcagct cacagagccg cgtccctcga agccgtgagc tacgccattg
      601 attctttaaa agccaaggtg cccatatgga aaaaggaaat atatgaagaa tcaacctcat
      661 cttggaaaag aaacaaagag tgcttctggg cagctggtga ctagtcaagt gtggtgcgct
      721 aagtctaaaa tttgataatc tcatagctaa cacaaacgga gaatagccaa gtgcatgagt
      781 gtgtgggatg aggggctgcc taggacttaa agatggggag aaagggcttg acttaaacct
      841 gtgataagat gtctgcaata gactcagcct tctgtgacta actcctaact aaccagctcg
      901 cagtgcgctg cagccttcct tttaccttca gctgtctcag gaagaccttg ctgtcccaga
      961 gtgtactgag agcatcacta tcaggcatgt gttaccaaaa aactggcaga atcagaaact
     1021 catttacata atgtaaaagt gaatctaaat aaatcatgat ttaaacagtc taaaaataga
     1081 tcctgtctcc tttttagtca atgataataa cctaagggat tagttgtcaa tattctcatc
     1141 actgtacaaa ttagcataaa attgttataa aactaactag caacaaggtg gtttatgtta
     1201 aaatgatgta tgtttaaaag ttggcccaca attgcttgag gagattgtgc agttatttgt
     1261 taaagtagtt tagatagttt tcataatgtt tatgtaacaa tagcctgtgt gaagttaaga
     1321 ctaaacaaat taaattttct gcaagatatt tatactaagc atccagtttt tgattggtga
     1381 atttatcatg gcaggtttga atatacaaat ctcgtacact ttgtgtttcc agctttattg
     1441 acatatattt gacaagtgaa atacacttag gttctataat gtggtgtcgt gatgcttgtg
     1501 ttgtggtgag atcgtcacaa cccagacgat taacatgtcc atcacctcag acaggttcac
     1561 tgggaagact gaaggtacat tctaagctca gaaagaacta aaatactagc agggctagag
     1621 agatggctca gcagttaaga gcactggctg ctcttccaga ggacccaggt tcaattccca
     1681 gcactcactt ggcagatcac actagtctgt aagtccagtt ccagggttgc tgaggcattt
     1741 atatatatat aataaatata taatatc
//
