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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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