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

Gene ID: 17434, updated on 21-Apr-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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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. 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
  3. 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
  4. 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
  5. Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans. Matthies A, et al. Proc Natl Acad Sci U S A, 2004 Apr 20. PMID 15073332, Free PMC Article

See all (22) 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)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (1) 

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 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity 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 molybdopterin cofactor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
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
  
part_of molybdopterin synthase complex ISO
Inferred from Sequence Orthology
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

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

    Status: VALIDATED

    Source sequence(s)
    CT025598
    UniProtKB/TrEMBL
    F6ZGI7

  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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