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    MOSMO modulator of smoothened [ Homo sapiens (human) ]

    Gene ID: 730094, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MOSMOprovided by HGNC
    Official Full Name
    modulator of smoothenedprovided by HGNC
    Primary source
    HGNC:HGNC:27087
    See related
    Ensembl:ENSG00000185716 AllianceGenome:HGNC:27087
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATTHOG; BC030336; C16orf52
    Summary
    Predicted to be involved in negative regulation of smoothened signaling pathway; regulation of neuron differentiation; and regulation of protein stability. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic limb morphogenesis; and smoothened signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in Golgi apparatus and ciliary membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 11.6), brain (RPKM 8.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MOSMO in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22008111..22092652)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22132537..22209081, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (22019432..22095975)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase core protein 2 Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene PDZ domain containing 9 Neighboring gene islet cell autoantigen 1, 69kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7258 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10566 Neighboring gene uncharacterized LOC124903665 Neighboring gene Sharpr-MPRA regulatory region 14412 Neighboring gene uncharacterized LOC105371129 Neighboring gene von Willebrand factor A domain containing 3A Neighboring gene short chain dehydrogenase/reductase family 42E, member 2 Neighboring gene uncharacterized LOC124903666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:22196551-22197050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22201633-22202132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10569 Neighboring gene tRNA-Leu (anticodon TAG) 3-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    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. The sequence and analysis of duplication-rich human chromosome 16. Martin J, et al. Nature, 2004 Dec 23. PMID 15616553
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26782

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in left/right pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein stability ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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

    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_001164579.2 → NP_001158051.1  modulator of smoothened protein precursor

      See identical proteins and their annotated locations for NP_001158051.1

      Status: VALIDATED

      Source sequence(s)
      AC009019, AC092119
      Consensus CDS
      CCDS58431.1
      UniProtKB/Swiss-Prot
      H3BNM6, Q8NHV5
      UniProtKB/TrEMBL
      A0AAG2TEK6
      Related
      ENSP00000454926.1, ENST00000542527.7
      Conserved Domains (1) summary
      pfam18800
      Location:25 → 166
      Atthog; Attenuator of Hedgehog

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      22008111..22092652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434583.1 → XP_047290539.1  modulator of smoothened protein isoform X1

    RNA

    1. XR_007064906.1 RNA Sequence

    2. XR_007064907.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      1020384..1096927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22132537..22209081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173501.1: Suppressed sequence

      Description
      NM_173501.1: This RefSeq was permanently suppressed because currently there is support for the transcript, but not for the protein, and it is a candidate for nonsense-mediated decay.

    2. NR_024104.1: Suppressed sequence

      Description
      NR_024104.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHV5.3 GenPept UniProtKB/Swiss-Prot:Q8NHV5

    Gene LinkOut

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

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