LOCUS       NM_014484               5112 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.
ACCESSION   NM_014484
VERSION     NM_014484.5
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 5112)
  AUTHORS   Pabis,M., Termathe,M., Ravichandran,K.E., Kienast,S.D.,
            Krutyholowa,R., Sokolowski,M., Jankowska,U., Grudnik,P.,
            Leidel,S.A. and Glatt,S.
  TITLE     Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system
            in tRNA thiolation and ubiquitin-like conjugation
  JOURNAL   EMBO J 39 (19), e105087 (2020)
   PUBMED   32901956
  REMARK    GeneRIF: Molecular basis for the bifunctional Uba4-Urm1
            sulfur-relay system in tRNA thiolation and ubiquitin-like
            conjugation.
REFERENCE   2  (bases 1 to 5112)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 5112)
  AUTHORS   Neukranz,Y., Kotter,A., Beilschmidt,L., Marelja,Z., Helm,M.,
            Graf,R. and Leimkuhler,S.
  TITLE     Analysis of the Cellular Roles of MOCS3 Identifies a
            MOCS3-Independent Localization of NFS1 at the Tips of the
            Centrosome
  JOURNAL   Biochemistry 58 (13), 1786-1798 (2019)
   PUBMED   30817134
  REMARK    GeneRIF: By different methods, this study identified a
            MOCS3-independent novel localization of NFS1 at the centrosome.
REFERENCE   4  (bases 1 to 5112)
  AUTHORS   Huijmans,J.G.M., Schot,R., de Klerk,J.B.C., Williams,M., de
            Coo,R.F.M., Duran,M., Verheijen,F.W., van Slegtenhorst,M. and
            Mancini,G.M.S.
  TITLE     Molybdenum cofactor deficiency: Identification of a patient with
            homozygote mutation in the MOCS3 gene
  JOURNAL   Am J Med Genet A 173 (6), 1601-1606 (2017)
   PUBMED   28544736
  REMARK    GeneRIF: This observation should encourage testing of additional
            intellectual disability patients with mild abnormalities of sulfite
            metabolism for MOCS3 mutations.
REFERENCE   5  (bases 1 to 5112)
  AUTHORS   Jackson,V.E., Ntalla,I., Sayers,I., Morris,R., Whincup,P.,
            Casas,J.P., Amuzu,A., Choi,M., Dale,C., Kumari,M., Engmann,J.,
            Kalsheker,N., Chappell,S., Guetta-Baranes,T., McKeever,T.M.,
            Palmer,C.N., Tavendale,R., Holloway,J.W., Sayer,A.A.,
            Dennison,E.M., Cooper,C., Bafadhel,M., Barker,B., Brightling,C.,
            Bolton,C.E., John,M.E., Parker,S.G., Moffat,M.F., Wardlaw,A.J.,
            Connolly,M.J., Porteous,D.J., Smith,B.H., Padmanabhan,S.,
            Hocking,L., Stirrups,K.E., Deloukas,P., Strachan,D.P., Hall,I.P.,
            Tobin,M.D. and Wain,L.V.
  TITLE     Exome-wide analysis of rare coding variation identifies novel
            associations with COPD and airflow limitation in MOCS3, IFIT3 and
            SERPINA12
  JOURNAL   Thorax 71 (6), 501-509 (2016)
   PUBMED   26917578
  REMARK    GeneRIF: Among the associated variants were two in regions
            previously unreported for COPD; a low frequency non-synonymous SNP
            in MOCS3 (rs7269297, pdiscovery=3.08x10(-6), preplication=0.019)
            and a rare SNP in IFIT3, which emerged in the meta-analysis
            (rs140549288, pmeta=8.56x10(-6)).
REFERENCE   6  (bases 1 to 5112)
  AUTHORS   Krepinsky,K. and Leimkuhler,S.
  TITLE     Site-directed mutagenesis of the active site loop of the
            rhodanese-like domain of the human molybdopterin synthase sulfurase
            MOCS3. Major differences in substrate specificity between
            eukaryotic and bacterial homologs
  JOURNAL   FEBS J 274 (11), 2778-2787 (2007)
   PUBMED   17459099
  REMARK    GeneRIF: in humans & most eukaryotes thiosulfate is not physiologic
            sulfur donor for MOCS3, whereas in bacterial homologs, which have
            arginine at last position of active site loop, thiosulfate can be
            used as a sulfur source for molybdenum cofactor biosynthesis.
REFERENCE   7  (bases 1 to 5112)
  AUTHORS   Matthies,A., Nimtz,M. and Leimkuhler,S.
  TITLE     Molybdenum cofactor biosynthesis in humans: identification of a
            persulfide group in the rhodanese-like domain of MOCS3 by mass
            spectrometry
  JOURNAL   Biochemistry 44 (21), 7912-7920 (2005)
   PUBMED   15910006
  REMARK    GeneRIF: Electrospray ionization mass spectrometry performed on a
            rhodanese-like carboxyl-terminal domain of human MOCS3 provides
            direct evidence for the formation of persulfide on cysteine residue
            412.
REFERENCE   8  (bases 1 to 5112)
  AUTHORS   Matthies,A., Rajagopalan,K.V., Mendel,R.R. 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
  REMARK    GeneRIF: MOCS3 protein is believed to catalyze both the adenylation
            and the subsequent generation of a thiocarboxylate group at the C
            terminus of the smaller subunit of molybdopterin synthase
REFERENCE   9  (bases 1 to 5112)
  AUTHORS   Johnson,J.L., Coyne,K.E., Rajagopalan,K.V., Van Hove,J.L.,
            Mackay,M., Pitt,J. and Boneh,A.
  TITLE     Molybdopterin synthase mutations in a mild case of molybdenum
            cofactor deficiency
  JOURNAL   Am J Med Genet 104 (2), 169-173 (2001)
   PUBMED   11746050
REFERENCE   10 (bases 1 to 5112)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB452633.1, AF102544.1,
            BC015939.2, HY215239.1, BY995583.1, BQ188547.1, AI942426.1 and
            AL034553.12.
            
            On May 17, 2019 this sequence version replaced NM_014484.4.
            
            Summary: Molybdenum cofactor (MoCo) is necessary for the function
            of all molybdoenzymes. The protein encoded by this gene adenylates
            and activates molybdopterin synthase, an enzyme required for
            biosynthesis of MoCo. This gene contains no introns. A pseudogene
            of this gene is present on chromosome 14. [provided by RefSeq, Nov
            2012].
            
            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 is intronless :: SRR1803617.267477.1, SRR1803613.28578.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000244051.3/ ENSP00000244051.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DB452633.1         5-27
            24-1491             AF102544.1         1-1468
            1492-1941           BC015939.2         1484-1933
            1942-2203           HY215239.1         72-333              c
            2204-2523           BY995583.1         358-677
            2524-2977           BQ188547.1         121-574
            2978-3046           AI942426.1         3-71                c
            3047-5112           AL034553.12        83311-85376
FEATURES             Location/Qualifiers
     source          1..5112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     gene            1..5112
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="molybdenum cofactor synthesis 3"
                     /db_xref="GeneID:27304"
                     /db_xref="HGNC:HGNC:15765"
                     /db_xref="MIM:609277"
     exon            1..5112
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1408
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /EC_number="2.7.7.80"
                     /EC_number="2.8.1.11"
                     /note="UBA4, ubiquitin-activating enzyme E1 homolog; MPT
                     synthase sulfurylase; ubiquitin-like modifier activating
                     enzyme 4; molybdopterin synthase sulfurylase; molybdenum
                     cofactor synthesis protein 3"
                     /codon_start=1
                     /product="adenylyltransferase and sulfurtransferase MOCS3"
                     /protein_id="NP_055299.1"
                     /db_xref="CCDS:CCDS13435.1"
                     /db_xref="GeneID:27304"
                     /db_xref="HGNC:HGNC:15765"
                     /db_xref="MIM:609277"
                     /translation="MASREEVLALQAEVAQREEELNSLKQKLASALLAEQEPQPERLV
                     PVSPLPPKAALSRDEILRYSRQLVLPELGVHGQLRLGTACVLIVGCGGLGCPLAQYLA
                     AAGVGRLGLVDYDVVEMSNLARQVLHGEALAGQAKAFSAAASLRRLNSAVECVPYTQA
                     LTPATALDLVRRYDVVADCSDNVPTRYLVNDACVLAGRPLVSASALRFEGQITVYHYD
                     GGPCYRCIFPQPPPAETVTNCADGGVLGVVTGVLGCLQALEVLKIAAGLGPSYSGSLL
                     LFDALRGHFRSIRLRSRRLDCAACGERPTVTDLLDYEAFCGSSATDKCRSLQLLSPEE
                     RVSVTDYKRLLDSGAFHLLLDVRPQVEVDICRLPHALHIPLKHLERRDAESLKLLKEA
                     IWEEKQGTQEGAAVPIYVICKLGNDSQKAVKILQSLSAAQELDPLTVRDVVGGLMAWA
                     AKIDGTFPQY"
     regulatory      2246..2251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="hexamer: AATAAA"
     polyA_site      2275
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="major polyA site"
     polyA_site      3046
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="major polyA site"
     regulatory      4488..4493
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="hexamer: AATAAA"
     polyA_site      4508
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
     regulatory      4890..4895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="hexamer: AATACA"
     polyA_site      4908
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
     regulatory      5095..5100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /note="hexamer: AATAGA"
     polyA_site      5112
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
ORIGIN      
        1 acgacaactt ccggaagagg tcgccatggc ttcccgggag gaggtactcg ccttacaagc
       61 tgaagttgcc caacgtgagg aggaattgaa ttcgctgaag cagaagctgg cgtcggctct
      121 tttggctgag caggaaccgc agccagaacg gctggttccg gtgtcgccgc tgccgccgaa
      181 ggccgctctg tcccgagatg agattctgcg ctatagccgg cagctagtgc tgcccgagct
      241 gggcgtgcac ggacagctgc gcctggggac cgcgtgcgtg ctaatcgtgg gctgcggtgg
      301 gctcggctgt ccactagcgc agtacttggc agcggccggc gtgggccgcc ttggccttgt
      361 ggactatgac gtggtagaga tgagcaacct ggcccgccaa gtgctgcatg gcgaggcact
      421 ggctggccag gccaaggcct tttcggccgc cgcctcgctg cgccgcctca attcggcagt
      481 ggaatgcgtg ccgtacactc aggcccttac gccagccact gccctagacc tggtccgccg
      541 atatgatgtg gtggctgact gctcggacaa cgtgcccact cgctacctgg ttaatgacgc
      601 atgtgtgctg gcgggtcggc ccctcgtgtc tgccagtgcc ttgcgcttcg agggccaaat
      661 cacagtctac cattatgacg gtggcccttg ctatcgctgc atattccccc aaccaccccc
      721 agcggagaca gtgaccaact gcgcggacgg cggggtgctc ggtgtcgtta ccggggtcct
      781 gggctgcctg caggccttgg aagtgctgaa aatcgctgcg ggtctgggcc cctcttacag
      841 tggcagcttg ttgctctttg atgccctgag agggcatttc cgctctattc ggctgcggag
      901 ccgcaggctc gactgtgcag cttgcgggga acggcccact gtgactgatc tgctggacta
      961 tgaagccttc tgtggctcct cagccactga taaatgccgc tccctgcaac tactgagccc
     1021 agaggagcgt gtttctgtca ccgactataa gcgactgctg gattctgggg cattccacct
     1081 gttgctggac gtcaggcctc aggtggaggt ggacatttgt cgtttgcctc atgccctaca
     1141 catccctctg aaacatttgg aacgcaggga tgcggagagc ctgaaactct taaaagaagc
     1201 aatctgggaa gagaagcagg gcacacaaga aggggctgct gtccccattt atgtgatttg
     1261 caaactggga aatgactcac agaaagccgt gaagatcctc cagtccttat cagcagctca
     1321 agagttagac cctttaacag ttcgggatgt tgtggggggc ctcatggcct gggctgccaa
     1381 aatcgatgga acatttccac agtactgagg tgactggtat agtctgatga gaaagatgtg
     1441 gattgccata atacctcaaa gatacacttg tttgcatttt tcggtaatat acataggagc
     1501 tggggattct acagtatctg tgaatacgtg gactcctttt tataaggagt tttaaaaatt
     1561 gttatgtatt ggatgaatga cttattaatg gattataccg tttctgagaa ccatcatttt
     1621 ttttttcagc acacggagga tgtcttggac atgtgagatg taacgtgaca ggattttgca
     1681 ttttaaactg cagatcattt acatgtcctt attttccacc tcccccagtc aaaatgcttt
     1741 ctaaatcatt ttcacagatt atatacttcg gatctgttta ctgttcagtt aagaaattct
     1801 tggatcttat taatatttca gatgatagaa tacatcctac agaaatacat gtttaaaatg
     1861 taaattgttt taattattca gaaagagggt cattctattt ggccttttga attagtatca
     1921 aaatgagatt tttttttttt ttttgagatg gaatctctct ctgttgccca ggctggagtg
     1981 tagtggtgcg atctcagctc actgcaacct ccgcctccca ggttcaagcg attctcctgc
     2041 ctcagcctcc tgagtagctg ggattacagg cgcacgccac cacgcctggc taatttttgt
     2101 atttttagta cagagggggt ttcaccatgt ttgtcaggct ggtctcgaac tcctgacctc
     2161 gtgatccgcc tgcctcgact tcccagagtg ctgggattac aggcgtgagc caccacaccc
     2221 tcccgagatc tttaaagttt accaaaataa aggaaaccac ctttgtagtc tgtcagtgtc
     2281 tcttataaat tgctactgtt ttcttaaagt taacttcagg gtccacctta tgttgcacac
     2341 atatcacatc gtttaaattg catactatgg tttgacttgc tttggaattt tcaagtcaaa
     2401 gtcccaaccc tttgcctctc cccctttaat ttgccttttc tcttttgatt taatgttttt
     2461 ttattccagc attttatact aatgtaaaat gtttttatgt ttgtttactt aacattttca
     2521 taaaatagta ggtagtctca ccaacttcca atatatacaa caacattata agtaaaaatt
     2581 tgatttgtga gtgcctatca gtggccagat gaactaatgg cttgtcagaa gggggcctgt
     2641 gacctcctgc ttgctgcatg caggcttata atcatcaatt gctgctgttg tttttttaag
     2701 aatggcagaa atcacagata caactataaa atctttgtat ttctgttaac catttttttt
     2761 aaagcttaaa tgtatcataa gccagcaaaa accctttgta gaccagattt acttaccagt
     2821 ttgcaatttg tgatatagaa tcttgtttta ttataagagg gtggtattta acaaattcaa
     2881 aattagtcat cactttttaa ctgtgaaaca ttgtaactaa ttctttgaac aggtatactt
     2941 aaagtatggt atacccttct gttataaaga tgaagcaggt ctcttatgac tgttcctgcc
     3001 aacgagttat ggaggtaaat gactgtgacc tggagtggag aacaaagatg gctggcctgt
     3061 gtttttcatc tccttcttcc agggacaact gattctgata catagcagga aacaaatagc
     3121 gacacacagg aacaatttca tattctaaag actgaagtcc taaagttata gacagttgta
     3181 gttcctataa acctggttgt cacaggggac aggcaagaga agctgactag ctaagtgtta
     3241 aaaggtttac taaagtgata ggaggtgctt ttgagaattt tggggacaga ttcaaggctg
     3301 tacttctagg aatgatgccc gaaatcatgc acaaaactgg ccttaggaga acagtgtcta
     3361 tgttgtgctg ccctatcaag taccggagga aacgccacta cagtctcacc agtttcactt
     3421 gacgtgcccc cccaactctc ccagaaagcc caacacttca gccacagtcc atgtgtcgag
     3481 aaacagagtc actacattat tcttttctga gtcaagcctt atgagggtgc ctggtaggca
     3541 gagtctaatt acatgcctac atcttagctg caagagaggc tgggaatttg tgttttgata
     3601 tctacaatag gaagacagaa ctcatgatgt gggattttcc caaatagtga aatatttttc
     3661 aaaagatggg ctgttaagaa tataacagat acccagtaca caacccagat ctatttcagt
     3721 atttgttttt tgttgttgtt gttttggaga cagagtctcg ctctatcccc caggctggat
     3781 ggagtgcagc ggcacaatct cggctcactg caacctccac ctcccatgtt caagtgattc
     3841 tcatgcctca gcctcctgag tagctgggat tacaggcacc tgccaccaca tctggctaat
     3901 ttttctattt ttagtagcga tggggtttcg ccatgttggc ctggctggtc ttgaactcct
     3961 gacctcaggt gatctgtgca cctcagcctc ccaaagtgct aggattacag gcatgagtca
     4021 ctgcacctgg catatattag tatttgaaat ttggttttct ctggggattg tagctaggtt
     4081 tttatggtga gataggattt gaacataatt tgttttttga gacgaagtct tgcttcgtcg
     4141 cccagggtgg agtgtagtgt tgtgatcaca gctcgctgtg gcctcaacct cctgggttca
     4201 agtgatcctc ccacctcagc ctctcaagta gcttgaatta cagttgtatg ccaccatgcc
     4261 tagccatttt ttaatttaaa aattttttgg tagcaatggg gtctgaatat gtggcctagg
     4321 ctgatctcaa actcctgggc tcaagcatcc ctcctgcctc agcctcccaa agtgcttggg
     4381 attacgggta tgaggcacca tgcccagcct gaacttgatt tttttgttgt ttccttttca
     4441 taacaaacat caaatgcctt cagtgtacta gttcttctag gttctggaat aaaaatgagc
     4501 aagaggtttc ctgttgtaga ggagtttata tttaaatggt gataagtaaa ttactgataa
     4561 gtgccataaa agaaatgaaa ctgtgacata ttagggtggg ggaggggatc tgttttgaat
     4621 agcttaatta tggaaggcct cagagatgac attaaaccca aaacctgaaa ggtgagaaag
     4681 agccagttac agaagatctg aggaaaattc tatactggga gaaaaataac tgtaaagacc
     4741 tcaaggtaaa taaacttgga atgttccgtt caagaaactg cagaggcaag ttgggttgca
     4801 aacaattagg gagagtggga cagggtgagg tttgagaagc agggaacatc ataaactttg
     4861 tagaccatag tagtttggtt tttattctaa atacaataat agctaatatt ttgagcactt
     4921 actgtgttat ttgggatttg aatccagatg ctctggttga agagcccatt ccctaagtgt
     4981 catgctatac tgactctaag caaaactttg ccattgcttc atatgtgttc atgccctgtc
     5041 agggcataga aagcaatcta tgtcctgaca atcacggaag tgtattccag atacaataga
     5101 aatgtactct ga
//
