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    MOSMO modulator of smoothened [ Homo sapiens (human) ]

    Gene ID: 730094, updated on 22-Sep-2022

    Summary

    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 be located in plasma membrane. Predicted to be active in Golgi apparatus and ciliary membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 11.6), brain (RPKM 8.9) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MOSMO in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22008111..22092652)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22132537..22209081, complement)
    105.20220307 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 uncharacterized LOC124903665 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 tRNA-Leu (anticodon TAG) 3-1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    General gene information

    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 negative regulation of smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    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
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001164579.2NP_001158051.1  modulator of smoothened protein

      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
      Related
      ENSP00000454926.1, ENST00000542527.7
      Conserved Domains (1) summary
      pfam18800
      Location:25166
      Atthog; Attenuator of Hedgehog

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047434583.1XP_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.