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

Summary

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

Location:: 7; 7 F2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (120276825..120334077)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (120677620..120734854)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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)

Endonuclease-mediated (1) 1 citation

General gene information

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Markers

BB210012 (e-PCR)
- UniSTS:208191

RH139745 (e-PCR)
- UniSTS:221829

RH143363 (e-PCR)
- UniSTS:232610

Homology

Homologs of the Mosmo gene: The Mosmo gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 360 organisms have orthologs with human gene Mosmo
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within 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	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

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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)

NM_001164580.1 → NP_001158052.1 modulator of smoothened protein

See identical proteins and their annotated locations for NP_001158052.1

Status: VALIDATED

Source sequence(s)

AC099930, AC122214, BC030336

Consensus CDS

CCDS52381.1

UniProtKB/Swiss-Prot

Q8C784, Q8K0V1

UniProtKB/TrEMBL

A0A6P5Q7G2

Related

ENSMUSP00000055934.7, ENSMUST00000060175.8

Conserved Domains (1) summary

pfam18800
Location:25 → 166

Atthog; Attenuator of Hedgehog

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

120276825..120334077

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507689.4 → XP_006507752.1 modulator of smoothened protein isoform X1

UniProtKB/Swiss-Prot

Q8C784

Conserved Domains (1) summary

pfam18800
Location:25 → 106

Atthog; Attenuator of Hedgehog