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    Mosmo modulator of smoothened [ Mus musculus (house mouse) ]

    Gene ID: 233812, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Mosmoprovided by MGI
    Official Full Name
    modulator of smoothenedprovided by MGI
    Primary source
    MGI:MGI:2446240
    See related
    Ensembl:ENSMUSG00000046096 AllianceGenome:MGI:2446240
    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
    Atthog
    Summary
    Involved in negative regulation of smoothened signaling pathway; regulation of neuron differentiation; and regulation of protein stability. Located in Golgi apparatus and ciliary membrane. Orthologous to human MOSMO (modulator of smoothened). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 5.6), CNS E11.5 (RPKM 5.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 F2; 7 64.9 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (120276814..120334079)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (120677620..120734854)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32916 Neighboring gene mitochondrial import receptor subunit TOM7 homolog pseudogene Neighboring gene ubiquinol cytochrome c reductase core protein 2 Neighboring gene PDZ domain containing 9 Neighboring gene predicted gene, 57518 Neighboring gene von Willebrand factor A domain containing 3A Neighboring gene short chain dehydrogenase/reductase family 42E, member 2

    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. CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog. Pusapati GV, et al. Dev Cell, 2018 Jan 8. PMID 29290584, Free PMC Article
    2. Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength. Kong JH, et al. Development, 2021 Oct 1. PMID 34486668, Free PMC Article
    3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength.
      Title: Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength.
    2. This gene encodes a four-pass transmembrane protein that dampens signaling through the Hedgehog pathway by reducing the levels of the Smoothened oncoprotein at the cell surface and the primary cilium.
      Title: CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40669

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    modulator of smoothened protein
    Names
    Attenuator of Hedgehog
    uncharacterized protein C16orf52 homolog

    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_001164580.2 → NP_001158052.1  modulator of smoothened protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001158052.1

      Status: VALIDATED

      Source sequence(s)
      AC099930, AC122214
      Consensus CDS
      CCDS52381.1
      UniProtKB/Swiss-Prot
      Q3TS22, Q8C784, Q8K0V1
      Related
      ENSMUSP00000055934.7, ENSMUST00000060175.8
      Conserved Domains (1) summary
      pfam18800
      Location:25 → 166
      Atthog; Attenuator of Hedgehog

    2. NM_001420475.1 → NP_001407404.1  modulator of smoothened protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC099930, AC122214

    3. NM_001420476.1 → NP_001407405.1  modulator of smoothened protein isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC099930, AC122214

    4. NM_001420477.1 → NP_001407406.1  modulator of smoothened protein isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC099930, AC122214
      UniProtKB/TrEMBL
      A0A140LH99

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      120276814..120334079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C784.2 GenPept UniProtKB/Swiss-Prot:Q8C784

    Gene LinkOut

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

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