LOCUS       NM_001358530            4143 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript
            variant 7, mRNA.
ACCESSION   NM_001358530 XM_011514632
VERSION     NM_001358530.2
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 4143)
  AUTHORS   Liu,H., Yu,X., He,S. and Li,S.
  TITLE     New Neuroimaging Findings in Patients with Molybdenum Cofactor
            Deficiency Type A: A Case Report and Literature Review
  JOURNAL   Curr Med Imaging 20, 1-7 (2024)
   PUBMED   38389347
  REMARK    GeneRIF: New Neuroimaging Findings in Patients with Molybdenum
            Cofactor Deficiency Type A: A Case Report and Literature Review.
            Review article
REFERENCE   2  (bases 1 to 4143)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 4143)
  AUTHORS   Mayr,S.J., Roper,J. and Schwarz,G.
  TITLE     Alternative splicing of the bicistronic gene molybdenum cofactor
            synthesis 1 (MOCS1) uncovers a novel mitochondrial protein
            maturation mechanism
  JOURNAL   J Biol Chem 295 (10), 3029-3039 (2020)
   PUBMED   31996372
  REMARK    GeneRIF: Alternative splicing of the bicistronic gene molybdenum
            cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein
            maturation mechanism.
REFERENCE   4  (bases 1 to 4143)
  AUTHORS   Grings,M., Seminotti,B., Karunanidhi,A., Ghaloul-Gonzalez,L.,
            Mohsen,A.W., Wipf,P., Palmfeldt,J., Vockley,J. and Leipnitz,G.
  TITLE     ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial
            bioenergetics, dynamics, redox homeostasis and endoplasmic
            reticulum-mitochondria crosstalk in patient fibroblasts
  JOURNAL   Sci Rep 9 (1), 12651 (2019)
   PUBMED   31477743
  REMARK    GeneRIF: ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial
            bioenergetics, dynamics, redox homeostasis and endoplasmic
            reticulum-mitochondria crosstalk in patient fibroblasts.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4143)
  AUTHORS   Reiss,J. and Hahnewald,R.
  TITLE     Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
  JOURNAL   Hum Mutat 32 (1), 10-18 (2011)
   PUBMED   21031595
  REMARK    Review article
REFERENCE   6  (bases 1 to 4143)
  AUTHORS   Reiss,J., Christensen,E., Kurlemann,G., Zabot,M.T. and Dorche,C.
  TITLE     Genomic structure and mutational spectrum of the bicistronic MOCS1
            gene defective in molybdenum cofactor deficiency type A
  JOURNAL   Hum Genet 103 (6), 639-644 (1998)
   PUBMED   9921896
REFERENCE   7  (bases 1 to 4143)
  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 4143)
  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 4143)
  AUTHORS   Shalata,A., Mandel,H., Reiss,J., Szargel,R., Cohen-Akenine,A.,
            Dorche,C., Zabot,M.T., Van Gennip,A., Abeling,N., Berant,M. and
            Cohen,N.
  TITLE     Localization of a gene for molybdenum cofactor deficiency, on the
            short arm of chromosome 6, by homozygosity mapping
  JOURNAL   Am J Hum Genet 63 (1), 148-154 (1998)
   PUBMED   9634514
REFERENCE   10 (bases 1 to 4143)
  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 FO393411.1 and CA944911.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001358530.1.
            
            Summary: Molybdenum cofactor biosynthesis is a conserved pathway
            leading to the biological activation of molybdenum. The protein
            encoded by this gene is involved in this pathway. This gene was
            originally thought to produce a bicistronic mRNA with the potential
            to produce two proteins (MOCS1A and MOCS1B) from adjacent open
            reading frames. However, only the first open reading frame (MOCS1A)
            has been found to encode a protein from the putative bicistronic
            mRNA, whereas additional splice variants are likely to produce a
            fusion between the two open reading frames. This gene is defective
            in patients with molybdenum cofactor deficiency, type A. A related
            pseudogene has been identified on chromosome 16. [provided by
            RefSeq, Nov 2017].
            
            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 :: SRR1660807.178749.1,
                                           SRR1803616.250766.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340692.10/ ENSP00000344794.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               FO393411.1         35647-35814         c
            169-295             FO393411.1         28681-28807         c
            296-463             FO393411.1         27030-27197         c
            464-628             FO393411.1         17420-17584         c
            629-690             FO393411.1         15126-15187         c
            691-802             FO393411.1         14669-14780         c
            803-915             FO393411.1         14244-14356         c
            916-1026            FO393411.1         13616-13726         c
            1027-1147           FO393411.1         11187-11307         c
            1148-1195           FO393411.1         10407-10454         c
            1196-3401           FO393411.1         6264-8469           c
            3402-4043           CA944911.1         19-660              c
            4044-4143           FO393411.1         5522-5621           c
FEATURES             Location/Qualifiers
     source          1..4143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     gene            1..4143
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /note="molybdenum cofactor synthesis 1"
                     /db_xref="GeneID:4337"
                     /db_xref="HGNC:HGNC:7190"
                     /db_xref="MIM:603707"
     exon            1..168
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1956
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /EC_number="4.1.99.22"
                     /EC_number="4.6.1.17"
                     /note="isoform 7 is encoded by transcript variant 7;
                     molybdenum cofactor biosynthesis protein 1; molybdenum
                     cofactor biosynthesis protein A; MOCS1A enzyme; cell
                     migration-inducing gene 11 protein; molybdenum cofactor
                     synthesis-step 1 protein A-B"
                     /codon_start=1
                     /product="molybdenum cofactor biosynthesis protein 1
                     isoform 7"
                     /protein_id="NP_001345459.1"
                     /db_xref="CCDS:CCDS87394.1"
                     /db_xref="GeneID:4337"
                     /db_xref="HGNC:HGNC:7190"
                     /db_xref="MIM:603707"
                     /translation="MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASEEVS
                     RRRQFLREHAAPFSAFLTDSFGRQHSYLRISLTEKCNLRCQYCMPEEGVPLTPKANLL
                     TTEEILTLARLFVKEGIDKIRLTGGEPLIRPDVVDIVAQLQRLEGLRTIGVTTNGINL
                     ARLLPQLQKAGLSAINISLDTLVPAKFEFIVRRKGFHKVMEGIHKAIELGYNPVKVNC
                     VVMRGLNEDELLDFAALTEGLPLDVRFIEYMPFDGNKWNFKKMVSYKEMLDTVRQQWP
                     ELEKVPEEESSTAKAFKIPGFQGQISFITSMSEHFCGTCNRLRITADGNLKVCLFGNS
                     EVSLRDHLRAGASEQELLRIIGAAVGRKKRQHAGMFSISQMKNRPMILIELFLMFPNS
                     PPANPSIFSWDPLHVQGLRPRMSFSSQVATLWKGCRVPQTPPLAQQRLGSGSFQRHYT
                     SRADSDANSKCLSPGSWASAAPSGPQLTSEQLTHVDSEGRAAMVDVGRKPDTERVAVA
                     SAVVLLGPVAFKLVQQNQLKKGDALVVAQLAGVQAAKVTSQLIPLCHHVALSHIQVQL
                     ELDSTRHAVKIQASCRARGPTGVEMEALTSAAVAALTLYDMCKAVSRDIVLEEIKLIS
                     KTGGQRGDFHRA"
     exon            169..295
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            296..463
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            464..628
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            629..690
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            691..802
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            803..915
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1026
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1147
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1195
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..4143
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2765..2770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /note="hexamer: AATAAA"
     polyA_site      2797
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /note="major polyA site"
     regulatory      2969..2974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /note="hexamer: AATAAA"
     polyA_site      2995
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /note="major polyA site"
     regulatory      3234..3239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
                     /note="hexamer: ATTAAA"
     polyA_site      3263
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
     polyA_site      4143
                     /gene="MOCS1"
                     /gene_synonym="MIG11; MOCOD; MOCS1A; MOCS1B"
ORIGIN      
        1 agtgtgctcc cgaagcgggc tgcggttccg ctcgtatcag gcttcatggc ggcgcggcca
       61 ctgtcccgga tgctgcggcg gcttctgagg tccagcgccc ggagctgcag ctcaggggct
      121 ccggtgaccc agccctgccc cggggagtcc gcgcgagctg cctcggagga ggtgtccagg
      181 cggaggcagt tcctgcggga gcatgcggcc cccttctccg ccttcctcac agacagcttc
      241 ggccggcagc acagctacct gcggatctcc ctcacagaga agtgcaacct cagatgtcag
      301 tactgcatgc ccgaggaggg ggtcccgctg acccccaaag ccaacctgct gaccacagag
      361 gagatcctga ccctcgcccg gctctttgtg aaggaaggca tcgacaagat ccggctcaca
      421 ggtggagagc cgcttatccg gccggacgtg gtggacattg tggcccagct ccagcggctg
      481 gaagggctga gaaccatagg tgttaccacc aatggcatca acctggcccg gctactgccc
      541 cagcttcaga aggctggtct cagtgccatc aacatcagcc tggacaccct ggtgcctgcc
      601 aagtttgagt tcattgtccg caggaaaggc ttccacaagg tcatggaggg catccacaag
      661 gccatcgagc tgggctacaa ccctgtgaag gtgaactgtg tggtgatgcg aggccttaac
      721 gaggatgaac tcctggactt tgcggccttg actgagggcc tccccctgga tgtgcgcttc
      781 atagagtata tgccctttga tggcaacaag tggaacttca agaagatggt cagctataag
      841 gagatgctag acactgtccg gcagcagtgg ccagagctgg agaaggtgcc agaggaggaa
      901 tccagcacag ccaaggcctt taaaatccct ggcttccaag gccagatcag cttcatcaca
      961 tccatgtctg agcatttctg tgggacctgc aaccgcctgc gaatcacagc tgatgggaac
     1021 ctcaaggtct gcctctttgg aaactctgag gtatccctgc gggatcacct gcgagctggg
     1081 gcctctgagc aggagctgct gagaatcatt ggggctgctg tgggcaggaa gaagcggcag
     1141 catgcaggca tgttcagtat ttcccagatg aagaaccggc ccatgatcct catcgagtta
     1201 tttttgatgt tccccaattc cccaccagcc aatccaagca ttttctcctg ggacccgctc
     1261 catgttcagg gtctaagacc cagaatgagt ttctccagcc aggtggccac tttatggaaa
     1321 ggatgcaggg tcccccagac ccctcctcta gcccagcagc ggctggggtc tggctccttt
     1381 cagagacact acacttcccg tgcagactca gatgccaact caaagtgcct tagcccaggt
     1441 tcctgggctt ctgctgcccc ctcaggaccc cagctaacct cagaacaact aactcatgtg
     1501 gactcggaag gacgggcagc tatggtagat gtgggcagga agccagacac agagcgggtg
     1561 gctgtggctt cagccgtggt cctcctggga ccggtagcct tcaagcttgt ccagcagaac
     1621 cagctcaaga aaggagatgc cctagtggtg gcccagctgg ctggagtcca ggcagccaag
     1681 gtgaccagcc agctgatccc tctgtgccac cacgtggccc tgagccacat ccaggtgcag
     1741 ctggagctgg acagcacacg ccatgccgtg aagatccagg catcttgccg ggctcggggc
     1801 cccaccgggg tggagatgga ggccctgacc tctgctgcag tggccgccct caccctgtat
     1861 gacatgtgca aggctgtcag cagggacatc gtgttggagg agatcaagct cattagcaag
     1921 actggtggtc agcgggggga cttccatcgg gcttagcacc tgcccttctc acccatggcc
     1981 cacccaggcc tggagctggg atgcaatgta ggctgaggga aagacgtcag gttcctttaa
     2041 tcacagtcac tgtttgttta ccttgagcag taaacccgaa gtcagcctgc tctactacta
     2101 acaaacaggc ctgctgctag atgatctcta atgaccaatg gggcttcctt tctataggga
     2161 ggataccagc aggcccttaa gccttccagg acactaaggt cgtgggagcg ggactgcaac
     2221 aagcaatgcc agataactga gaaatcatgt tctttgtgga ctatttcaga caaccaggtt
     2281 ccgacagtcc agcccagaac ttttccttct cattttgggt tttctcttct cctgctttcc
     2341 tggggagaga ttaagcgctc attaagcaga ggagcccact ttgaggagag caaagcacaa
     2401 gcttgcctga agaatggatc ccaacttctc cccggcagct ctgcctccct aagtctgtga
     2461 agccgcagcc ctgccctgtc ctgtcctgtc ctgacttcat ctctccttct gcccaagtct
     2521 gtgtcccatc agacttgcag cctttcagct taacagttgc ccggtcctgc tggccccttt
     2581 tcctctggcc cccctcttct gaaacaggat gtgcacacat gggccatagc cctaaggact
     2641 cctgccagac cacacagccc acacctggcc ctgttcacgg ctgttccacc cacccctctt
     2701 tattctggag catatcaggg aaagaaaagt tgatgataga ttgccttcac cctcacagcg
     2761 cacaaataaa gctacgatgc caactttgca gatgcaagaa tgaagacact gtgtgggtag
     2821 ggcactgagc tgctgcagtt tcacagggaa ggctgcacct atcaatcaat caatcaatcc
     2881 tatcccaaga cacagttccc tgagggaaga agaggaggga cctggaaagg cctaagggtg
     2941 tactctctgt atagccccgc tatgggaaaa taaagtggag tagggggcat agaaatgcac
     3001 catctaaggg aaatcttttg tcaggtggtg gccaggggtg ttcaaagctc attgcttgca
     3061 ttaccagcta ttagagagat cagagagggc aattaattag aggctcctgg ttctcacatc
     3121 ccaaacacac acagttctgg cctgctgggc tctctaactt ggatgtcttt gagtcctcag
     3181 tggtgccccc tgcctgcctc ccctctgccc tatgccaagg tgtgctggca aatattaaac
     3241 aaccagctct ctggaaaaga caatttgtga tataaatact cccatgttga ataatttcaa
     3301 gctaccagta tgtcaaatgg cttgcaaaat ttctgaaaat gtaaacaatt ggttctcaca
     3361 gagctggtac aagctggctc cagcacactc tcagcccacc ccagatcccc tcataggaag
     3421 aaggcacaag tttaaaggca gactgggtag ggatggtatg aatttaatat tttttagtat
     3481 tacaatatat tcttataaaa aaggtgcaag tgaaaaagga cactgtagat tatgtccatt
     3541 agcctcattt gtcatctgag gcagctggtg agaacagcct tggcgtgaag gcatccctgg
     3601 tagaagtcgg gggagataga tagtcacagt tccccagttg gtggaaatgg gatgggagta
     3661 gggagaggct ggaacagacc cttccccatt cacctggaga attttctcct cccactgccc
     3721 taaacacttt atttccatca caggggagaa atgctgctga gaaggttgtg tttgttaggt
     3781 tgatgacgaa ttttacattg gccacaaaat tagctagaga aacttatcta aaggtggcag
     3841 gagcagtggg gagggcatga agaaagcaag accaagaaac aacctattaa ggaccagctc
     3901 agccaccccg actgggcacc agccccttct tactcagttg agtatgagtc catggtccaa
     3961 ggcactgttg gagatctggc tacagtggca tctagcacca gagccactgg ccagatgtag
     4021 aaaataaata gaaaaatatc tttcttttag agtgagaagg ctgagctctg gaacaacgta
     4081 tttgtgtcct ctgtcaacag ttgaaccaaa ttctgctttt ctgaagatca aatgtatctt
     4141 gaa
//
