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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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