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    Mocs1 molybdenum cofactor synthesis 1 [ Mus musculus (house mouse) ]

    Gene ID: 56738, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Mocs1provided by MGI
    Official Full Name
    molybdenum cofactor synthesis 1provided by MGI
    Primary source
    MGI:MGI:1928904
    See related
    Ensembl:ENSMUSG00000064120 AllianceGenome:MGI:1928904
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    3110045D15Rik
    Summary
    Enables GTP 3',8'-cyclase activity and cyclic pyranopterin monophosphate synthase activity. Acts upstream of or within molybdopterin cofactor biosynthetic process. Predicted to be located in cytosol. Predicted to be part of molybdopterin synthase complex. Human ortholog(s) of this gene implicated in molybdenum cofactor deficiency type A. Orthologous to human MOCS1 (molybdenum cofactor synthesis 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver adult (RPKM 48.0), duodenum adult (RPKM 34.1) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 C; 17 25.45 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (49735378..49762463)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (49428350..49455435)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42775 Neighboring gene ribosomal protein L5 pseudogene Neighboring gene predicted gene, 41594 Neighboring gene STARR-positive B cell enhancer ABC_E1944 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:49568292-49568475 Neighboring gene dishevelled associated activator of morphogenesis 2 Neighboring gene predicted gene, 52301 Neighboring gene kinesin family member 6 Neighboring gene VISTA enhancer mm276 Neighboring gene STARR-seq mESC enhancer starr_42779 Neighboring gene STARR-seq mESC enhancer starr_42780 Neighboring gene STARR-seq mESC enhancer starr_42781 Neighboring gene STARR-seq mESC enhancer starr_42782 Neighboring gene predicted gene 16555

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism. Mayr SJ, et al. J Biol Chem, 2020 Mar 6. PMID 31996372, Free PMC Article
    2. Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency. Kügler S, et al. Am J Hum Genet, 2007 Feb. PMID 17236133, Free PMC Article
    3. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Reiss J, et al. Mol Genet Metab, 2005 May. PMID 15862276
    4. Molybdenum cofactor-deficient mice resemble the phenotype of human patients. Lee HJ, et al. Hum Mol Genet, 2002 Dec 15. PMID 12471057
    5. Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. Gray TA, et al. RNA, 2000 Jul. PMID 10917590, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inactivity results in elevated sulfite and diminished sulfate levels throughout the organism, and various brain dysmorphisms.
      Title: The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTP 3',8'-cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP 3',8'-cyclase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables GTP 3',8'-cyclase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables S-adenosyl-L-methionine binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cyclic pyranopterin monophosphate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cyclic pyranopterin monophosphate synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables cyclic pyranopterin monophosphate synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Mo-molybdopterin cofactor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Mo-molybdopterin cofactor biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within molybdopterin cofactor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in molybdopterin cofactor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of molybdopterin synthase complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    molybdenum cofactor biosynthesis protein 1
    Names
    molybdenum cofactor synthesis-step 1 proteins A and B
    NP_064426.2
    NP_082740.1
    XP_006524743.1
    XP_006524744.1
    XP_006524745.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020042.3 → NP_064426.2  molybdenum cofactor biosynthesis protein 1 isoform 1

      See identical proteins and their annotated locations for NP_064426.2

      Status: VALIDATED

      Source sequence(s)
      AC165258
      Consensus CDS
      CCDS50143.1
      UniProtKB/Swiss-Prot
      B2RVW8, B7ZWI5, Q5RKZ7, Q8R058, Q9JL32, Q9JL33
      Related
      ENSMUSP00000133694.2, ENSMUST00000173033.8
      Conserved Domains (2) summary
      PLN02951
      Location:16 → 384
      PLN02951; Molybderin biosynthesis protein CNX2
      PRK09364
      Location:479 → 635
      moaC; cyclic pyranopterin monophosphate synthase MoaC

    2. NM_028464.2 → NP_082740.1  molybdenum cofactor biosynthesis protein 1 isoform 2

      See identical proteins and their annotated locations for NP_082740.1

      Status: VALIDATED

      Source sequence(s)
      AC165258
      Consensus CDS
      CCDS57100.1
      UniProtKB/Swiss-Prot
      Q5RKZ7
      Related
      ENSMUSP00000024797.10, ENSMUST00000024797.16
      Conserved Domains (3) summary
      cd01335
      Location:74 → 272
      Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
      PLN02951
      Location:16 → 385
      PLN02951; Molybderin biosynthesis protein CNX2
      pfam06463
      Location:241 → 367
      Mob_synth_C; Molybdenum Cofactor Synthesis C

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      49735378..49762463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524680.3 → XP_006524743.1  molybdenum cofactor biosynthesis protein 1 isoform X1

      Conserved Domains (2) summary
      PLN02951
      Location:1 → 297
      PLN02951; Molybderin biosynthesis protein CNX2
      PRK09364
      Location:392 → 548
      moaC; cyclic pyranopterin monophosphate synthase MoaC

    2. XM_006524681.4 → XP_006524744.1  molybdenum cofactor biosynthesis protein 1 isoform X2

      Conserved Domains (2) summary
      PLN02951
      Location:1 → 185
      PLN02951; Molybderin biosynthesis protein CNX2
      PRK09364
      Location:280 → 436
      moaC; cyclic pyranopterin monophosphate synthase MoaC

    3. XM_006524682.3 → XP_006524745.1  molybdenum cofactor biosynthesis protein 1 isoform X3

      Conserved Domains (2) summary
      PLN02951
      Location:1 → 124
      PLN02951; Molybderin biosynthesis protein CNX2
      PRK09364
      Location:219 → 375
      moaC; cyclic pyranopterin monophosphate synthase MoaC
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RKZ7.2 GenPept UniProtKB/Swiss-Prot:Q5RKZ7

    Gene LinkOut

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