LOCUS       NM_004531               4166 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript
            variant 3, mRNA.
ACCESSION   NM_004531 NM_183418
VERSION     NM_004531.5
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 4166)
  AUTHORS   Suganuma,T.
  TITLE     Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2
  JOURNAL   Molecules 27 (12), 3733 (2022)
   PUBMED   35744859
  REMARK    GeneRIF: Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and
            MOCS2.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4166)
  AUTHORS   Navarini,A.A., Simpson,M.A., Weale,M., Knight,J., Carlavan,I.,
            Reiniche,P., Burden,D.A., Layton,A., Bataille,V., Allen,M.,
            Pleass,R., Pink,A., Creamer,D., English,J., Munn,S., Walton,S.,
            Willis,C., Deret,S., Voegel,J.J., Spector,T., Smith,C.H.,
            Trembath,R.C. and Barker,J.N.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4166)
  AUTHORS   Marelja,Z., Stocklein,W., Nimtz,M. and Leimkuhler,S.
  TITLE     A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur
            donor for MOCS3, a protein involved in molybdenum cofactor
            biosynthesis
  JOURNAL   J Biol Chem 283 (37), 25178-25185 (2008)
   PUBMED   18650437
REFERENCE   4  (bases 1 to 4166)
  AUTHORS   Hahnewald,R., Leimkuhler,S., Vilaseca,A., Acquaviva-Bourdain,C.,
            Lenz,U. and Reiss,J.
  TITLE     A novel MOCS2 mutation reveals coordinated expression of the small
            and large subunit of molybdopterin synthase
  JOURNAL   Mol Genet Metab 89 (3), 210-213 (2006)
   PUBMED   16737835
  REMARK    GeneRIF: There was undisturbed production of both transcripts,
            while Western blot analysis demonstrated that MOCS2B, the large
            subunit, is unstable in the absence of MOCS2A.
REFERENCE   5  (bases 1 to 4166)
  AUTHORS   Stallmeyer,B., Drugeon,G., Reiss,J., Haenni,A.L. and Mendel,R.R.
  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
REFERENCE   6  (bases 1 to 4166)
  AUTHORS   Sloan,J., Kinghorn,J.R. and Unkles,S.E.
  TITLE     The two subunits of human molybdopterin synthase: evidence for a
            bicistronic messenger RNA with overlapping reading frames
  JOURNAL   Nucleic Acids Res 27 (3), 854-858 (1999)
   PUBMED   9889283
REFERENCE   7  (bases 1 to 4166)
  AUTHORS   Feng,G., Tintrup,H., Kirsch,J., Nichol,M.C., Kuhse,J., Betz,H. and
            Sanes,J.R.
  TITLE     Dual requirement for gephyrin in glycine receptor clustering and
            molybdoenzyme activity
  JOURNAL   Science 282 (5392), 1321-1324 (1998)
   PUBMED   9812897
REFERENCE   8  (bases 1 to 4166)
  AUTHORS   Reiss,J., Cohen,N., Dorche,C., Mandel,H., Mendel,R.R.,
            Stallmeyer,B., Zabot,M.T. and Dierks,T.
  TITLE     Mutations in a polycistronic nuclear gene associated with
            molybdenum cofactor deficiency
  JOURNAL   Nat Genet 20 (1), 51-53 (1998)
   PUBMED   9731530
REFERENCE   9  (bases 1 to 4166)
  AUTHORS   Misko,A., Mahtani,K., Abbott,J., Schwarz,G. and Atwal,P.
  TITLE     Molybdenum Cofactor Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34870926
REFERENCE   10 (bases 1 to 4166)
  AUTHORS   Krawczak,M., Reiss,J. and Cooper,D.N.
  TITLE     The mutational spectrum of single base-pair substitutions in mRNA
            splice junctions of human genes: causes and consequences
  JOURNAL   Hum Genet 90 (1-2), 41-54 (1992)
   PUBMED   1427786
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC095417.1, DA967651.1,
            BC046097.1, AC008966.9 and CB050849.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004531.4.
            
            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.
            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 (3) encodes the large subunit
            MOCS2B, also called MOCO1-B.
            
            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 :: SRR1660807.92737.1,
                                           SRR1660805.212585.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155550 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396954.8/ ENSP00000380157.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BC095417.1         17-18
            3-299               DA967651.1         1-297
            300-1778            BC046097.1         1-1479
            1779-3785           AC008966.9         44900-46906
            3786-4166           CB050849.1         29-409              c
FEATURES             Location/Qualifiers
     source          1..4166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..4166
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /note="molybdenum cofactor synthesis 2"
                     /db_xref="GeneID:4338"
                     /db_xref="HGNC:HGNC:7193"
                     /db_xref="MIM:603708"
     exon            1..507
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     exon            508..629
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     exon            630..774
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     CDS             677..1243
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /EC_number="2.8.1.12"
                     /note="large subunit MOCS2B is encoded by transcript
                     variant 3; molybdenum cofactor biosynthesis protein E"
                     /codon_start=1
                     /product="molybdopterin synthase catalytic subunit large
                     subunit MOCS2B"
                     /protein_id="NP_004522.1"
                     /db_xref="CCDS:CCDS3958.1"
                     /db_xref="GeneID:4338"
                     /db_xref="HGNC:HGNC:7193"
                     /db_xref="MIM:603708"
                     /translation="MSSLEISSSCFSLETKLPLSPPLVEDSAFEPSRKDMDEVEEKSK
                     DVINFTAEKLSVDEVSQLVISPLCGAISLFVGTTRNNFEGKKVISLEYEAYLPMAENE
                     VRKICSDIRQKWPVKHIAVFHRLGLVPVSEASIIIAVSSAHRAASLEAVSYAIDTLKA
                     KVPIWKKEIYEESSTWKGNKECFWASNS"
     exon            775..902
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1053
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1177
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..4166
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1753..1758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /note="hexamer: ACTAAA"
     polyA_site      1783
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /note="major polyA site"
     regulatory      4005..4010
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /note="hexamer: AATAAA"
     polyA_site      4029
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
     regulatory      4139..4144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
                     /note="hexamer: AATAAA"
     polyA_site      4166
                     /gene="MOCS2"
                     /gene_synonym="MCBPE; MOCO1; MOCODB; MPTS"
ORIGIN      
        1 gtgattcggt cccgctgtcc taggcgggat ggtgccgctg tgccaggtaa gggtggcggg
       61 tgtgcgtgcg ggcctgggtg cggagccctc ctcgacgtgt ctctcccgcc ctttccctcc
      121 acatacccag ccttggtcag tcggacctcc ccactagccc ccaacctggc cggcgtcttg
      181 ggttcggggg cgcccccgcc cccgcccccg ggcccttcct gtctccgggc tttactgcga
      241 ctgccccagc agaagtcggg tcctctccga gaactcttgt cagctcacgg cagcaaggac
      301 ggactcgttc tgaaggcgcc tccacctttt atgaccacct ctttcccaga ttattcgttt
      361 tgatgaagct aaaattttaa tctaaaaaga aatgcacctc atggagaatt cttgtgaaga
      421 actgtgcttc atctgtggat ttctacaccc ttgatcattt gcaaacctgt aattatttcg
      481 taaagagttg tttgcacgga gtgacaggtt gaagtattgt attttgcaaa aagtgctgaa
      541 ataacaggag ttcgttcaga gaccatttct gtgcctcaag aaataaaagc gttgcagctg
      601 tggaaggaga tagaaactcg acatcctgga ttggctgatg ttagaaatca gataatattt
      661 gctgttcgtc aagaatatgt cgagcttgga gatcagctcc tcgtgcttca gcctggagac
      721 gaaattgccg ttatcccccc cattagtgga ggatagtgct tttgagccat ctaggaaaga
      781 tatggatgaa gttgaagaga aatctaaaga tgttataaac tttactgccg agaaactttc
      841 agtagatgaa gtctcacagt tggtgatttc tccgctctgt ggtgcaatat ccctatttgt
      901 agggactaca agaaataact ttgaagggaa aaaagtcatt agcttagaat atgaagcata
      961 tctacccatg gcggaaaatg aagtcagaaa gatttgtagt gacattaggc agaaatggcc
     1021 agtcaaacac atagcagtgt tccatagact tggcttggtt ccagtgtcag aagcaagcat
     1081 aatcattgct gtgtcctcag cccacagagc tgcatctctt gaagctgtga gctatgccat
     1141 tgatacttta aaagccaagg tgcccatatg gaaaaaggaa atatacgaag agtcatcaac
     1201 ttggaaagga aacaaagagt gcttttgggc atccaacagt taatcactta tgtttttaga
     1261 gcatgcaatc ttaactttgt taaactatta ttattgatca cattttgatt tttttctctc
     1321 cacatcagga tagtttactg aagcacaatc tcttatacta gtgggacaaa agggagaaaa
     1381 aggaagcaag ataaatgggt atgtaggatg aagggttatt taaaatggaa ctaaagatag
     1441 aaggaggact gtaggaagaa atggaataat ttaaatgtga ggaaagatat ctgtggtaga
     1501 catgtccttc catgactaat ttctaattgt aactcaacac acattgaggt atgggccctc
     1561 ctcagtgact ttaactagct cagaaacgta ctcccccacc aaccccacct caccgccccc
     1621 catcccggtt ctgggagagc attgttatta aggatgcatg acaggaatgt tggcagaact
     1681 ggaaagtatt aaaaaagcat tatcagacag tcttgatatt atacattttc agaaatatat
     1741 taaaaataat aaactaaaac ccatgatttc aaaagtttaa aaagagtatt ttcttttttt
     1801 ttaaattgcc taaaatagtt ctcattatgg agatttctgg gatttcagaa tctataatct
     1861 taccagaaaa ctttttgttg ttttttatta gttgttaatt ttgtatcaat atacaaatca
     1921 gcacaaaatt gtcataaagc taactagcaa caaggtggtt tgtgttgaaa tgtttaggta
     1981 aacaatgccc caatttttaa ctggttaagc tttatagtat tttgatagac ttgtacatat
     2041 aagtcccata tagttcttaa attttttttt ccagctttat ttaggtatac ttgacaaaaa
     2101 ttgtatgtat ttaaagtata caatgtgatt tttgatacac atatacattg tgaggtgatt
     2161 accataatcc aactaattaa catattcctc agctcacata gtcccctctt ctgtgtggtg
     2221 agaatattta aggtctactc tcagcaaatt tcaggtaaac acatagctca taaaataata
     2281 aaatacaggc aaaatttggg cagtcggcat catcacaaaa tttgcattat gcatattaag
     2341 aacaaaagct atactttcag acacttagat tgaaggattt ttttcttatg tctgggacaa
     2401 ataagaaacg tagtaatcct atttgttata tgtagtgaaa acatctttta cctaaggaac
     2461 ccatttattc aacaaatatt tattgaatgc ctgttttgtg ccaggcaccc acccagtgat
     2521 ctttttctgc caacctaaaa taccttgagg aacactctgc atcttatctg tggctgggac
     2581 ccataggaca gccacactga ctttaggaat cacctggtta catcagttga tgcttgttca
     2641 ttagtccgtc tggagagatt gggccagaag gatactggaa gggcagacaa accctccgcc
     2701 tacttcctct gccgggttcg ggttgcctgt ttggtctcag ccttaccttc acagttcagt
     2761 gtcactctgg cttgccatcg agcttccgcc tgtccccatt ggagagaagg ggtgggtgtt
     2821 ggctgttgca ttatatctaa aagcacatta tcatggggtt actgggtcac tggacatttc
     2881 taggattttg gacataggtt gttaaatgga tgttatgtca tatgcaatgt tgataggtat
     2941 atgtggattt caagactttc ctacttagat atttctttag aagttcctta ttgagggtaa
     3001 tgatgttttt aaagaacata gaacattctt tatgttttaa aagaatcatg ccttcattaa
     3061 gtaggcttta ttctaagttt ggaactgaga ctgttatgct tttaaagtct ccaacagaga
     3121 ggttaaggag ttaacctggg gcatgccaga actgggatgg aatggccttg aaagatttta
     3181 gtgcattgca cttgacttag ataggatctt tactgaccct tgcttactta ggagtggcag
     3241 agttaattgg tggttcagat attaaggggc tactgtcact ctgatatgta gcttttctat
     3301 catctctgta acttagcttc aagtaactag aagagtaatc taaaaaaaat aattagcctt
     3361 taatcagatt gcctgcagtg tttcttggtc actttaaagc cgtgactttg catgattgct
     3421 aggtaagttc acttaagaaa taggaaattc aaattattta tgtttcaagt atttttgaac
     3481 aggtggtaaa atgaaattga tttttatcat ctttgaatga aagtaacagc agatattcaa
     3541 tgagtgactt attttgtgga catttttgtc ctttggatat gatgtataga gtcacaatat
     3601 attttcagcc ttttttgaga aataagtgat ttagacatct tacacagtta ctgagcacct
     3661 ggtacagtga agatctctca agaatgattt gtgtgatgta gttcggtgga tcatccagca
     3721 gagggcagta gagccagagc catagtaaaa gttatagtaa agttgctctt agcaacttga
     3781 gtcttactta gatttaattt tgcatagaac caaaagttca gtttagtagc cattttcttt
     3841 aaagtcaggc tgtagtggtt ccgaaatgaa aattaggccc tgattttatg taagatgatg
     3901 tccaatcttt aattgacacc ttaaaaatat taaaagatta tgataggatc aggaaggagt
     3961 ttttgaaaat gcaatttgta gtttttaaca agtgatgtag aataaataaa aagaagtact
     4021 ttttaaaaag taagtataaa attattttcc agttaactat gggatataaa tgattgcttt
     4081 aatacaggtc ttcctaacct gtacagcatt tcctaacctg ctctgtgaaa aacaaagaaa
     4141 taaaacttag tgctctcttt ctctaa
//
