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    Mocs2 molybdenum cofactor synthesis 2 [ Mus musculus (house mouse) ]

    Gene ID: 17434, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mocs2provided by MGI
    Official Full Name
    molybdenum cofactor synthesis 2provided by MGI
    Primary source
    MGI:MGI:1336894
    See related
    Ensembl:ENSMUSG00000015536 AllianceGenome:MGI:1336894
    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
    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]
    Expression
    Ubiquitous expression in bladder adult (RPKM 24.5), liver E18 (RPKM 24.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mocs2 in Genome Data Viewer
    Location:
    13 D2.2; 13 64.61 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (114954707..114965960)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (114818160..114829420)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930544M13 gene Neighboring gene STARR-seq mESC enhancer starr_35765 Neighboring gene STARR-seq mESC enhancer starr_35766 Neighboring gene predicted gene, 53802 Neighboring gene predicted gene, 34790 Neighboring gene STARR-seq mESC enhancer starr_35767 Neighboring gene STARR-positive B cell enhancer ABC_E5421 Neighboring gene STARR-positive B cell enhancer mm9_chr13:115621672-115621973 Neighboring gene STARR-seq mESC enhancer starr_35768 Neighboring gene integrin alpha 2 Neighboring gene predicted gene, 34845 Neighboring gene integrin alpha 1 Neighboring gene STARR-seq mESC enhancer starr_35769 Neighboring gene predicted gene 10734 Neighboring gene pelota mRNA surveillance and ribosome rescue factor

    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. Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections. Reiss J. Hum Genet, 2019 Apr. PMID 30810871
    2. Examining the liver-pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration. Karampelias C, et al. Life Sci Alliance, 2024 Nov. PMID 39159974, Free PMC Article
    3. Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. Stallmeyer B, et al. Am J Hum Genet, 1999 Mar. PMID 10053003, Free PMC Article
    4. Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. Jakubiczka-Smorag J, et al. Hum Genet, 2016 Jul. PMID 27138983
    5. Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. Leimkuhler S, et al. J Biol Chem, 2003 Jul 11. PMID 12732628

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
      Title: Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (5)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to molybdopterin synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables molybdopterin synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    contributes_to molybdopterin synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Mo-molybdopterin cofactor biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Mo-molybdopterin cofactor biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in molybdopterin cofactor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of molybdopterin synthase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of molybdopterin synthase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    molybdopterin synthase sulfur carrier subunit
    Names
    MOCS2B
    molybdenum cofactor synthesis protein 2 large subunit
    molybdenum cofactor synthesis protein 2B
    NP_001106845.1
    NP_001106846.1
    NP_001413175.1
    NP_001413176.1
    NP_001413177.1
    NP_001413178.1
    NP_001413179.1
    NP_038854.2
    XP_030103038.1

    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_001113374.2 → NP_001106845.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2B

      See identical proteins and their annotated locations for NP_001106845.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' end, compared to variant 1, and encodes the large subunit (Mocs2B).
      Source sequence(s)
      CT025598
      Consensus CDS
      CCDS49371.1
      UniProtKB/Swiss-Prot
      Q8C5E5, Q8R1M7, Q9DCK1, Q9Z223
      UniProtKB/TrEMBL
      A0A0R4J206
      Related
      ENSMUSP00000125797.2, ENSMUST00000166176.9
      Conserved Domains (1) summary
      pfam02391
      Location:50 → 161
      MoaE; MoaE protein

    2. NM_001113375.2 → NP_001106846.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2B2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' end and uses an alternate in-frame splice site in the 3' end, compared to variant 1. Variant 3 encodes a variant of the large subunit (Mocs2B2).
      Source sequence(s)
      CT025598
      Consensus CDS
      CCDS49370.1
      UniProtKB/Swiss-Prot
      Q8C5E5, Q8R1M7, Q9DCK1, Q9Z223
      UniProtKB/TrEMBL
      E9PVP5
      Related
      ENSMUSP00000133069.2, ENSMUST00000164737.8
      Conserved Domains (1) summary
      cd00756
      Location:54 → 146
      MoaE; MoaE family. Members of this family are involved in biosynthesis of the molybdenum cofactor (Moco), an essential cofactor for a diverse group of redox enzymes. Moco biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    3. NM_001426246.1 → NP_001413175.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2B3

      Status: VALIDATED

      Source sequence(s)
      CT025598

    4. NM_001426247.1 → NP_001413176.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2B4

      Status: VALIDATED

      Source sequence(s)
      CT025598

    5. NM_001426248.1 → NP_001413177.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2B5

      Status: VALIDATED

      Source sequence(s)
      CT025598

    6. NM_001426249.1 → NP_001413178.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2A

      Status: VALIDATED

      Source sequence(s)
      CT025598
      UniProtKB/TrEMBL
      F6ZGI7
      Related
      ENSMUSP00000139064.2, ENSMUST00000184335.8

    7. NM_001426250.1 → NP_001413179.1  molybdopterin synthase sulfur carrier subunit isoform Mocs2A

      Status: VALIDATED

      Source sequence(s)
      CT025598
      UniProtKB/TrEMBL
      F6ZGI7
      Related
      ENSMUSP00000139355.2, ENSMUST00000184245.8

    8. NM_013826.4 → NP_038854.2  molybdopterin synthase sulfur carrier subunit isoform Mocs2A

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the small subunit (Mocs2A).
      Source sequence(s)
      CT025598
      Consensus CDS
      CCDS49369.1
      UniProtKB/Swiss-Prot
      Q9D6Q0, Q9Z224
      UniProtKB/TrEMBL
      F6ZGI7
      Related
      ENSMUSP00000129021.2, ENSMUST00000166104.9
      Conserved Domains (1) summary
      cd00754
      Location:7 → 88
      MoaD; Ubiquitin domain of MoaD-like proteins

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      114954707..114965960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030247178.2 → XP_030103038.1  molybdopterin synthase sulfur carrier subunit isoform X1

      UniProtKB/Swiss-Prot
      Q8C5E5, Q8R1M7, Q9DCK1, Q9Z223
      UniProtKB/TrEMBL
      A0A0R4J206
      Related
      ENSMUSP00000015680.5, ENSMUST00000015680.11
      Conserved Domains (1) summary
      pfam02391
      Location:50 → 161
      MoaE; MoaE protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z223.3 GenPept UniProtKB/Swiss-Prot:Q9Z223
    Q9Z224.1 GenPept UniProtKB/Swiss-Prot:Q9Z224

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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