Mymk myomaker, myoblast fusion factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mymkprovided by MGI
Official Full Name: myomaker, myoblast fusion factorprovided by MGI
Primary source: MGI:MGI:1913389
See related: Ensembl:ENSMUSG00000009214 AllianceGenome:MGI:1913389
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: Tmem8c; myomaker; 1110002H13Rik
Summary: Involved in myoblast fusion; plasma membrane fusion; and positive regulation of skeletal muscle hypertrophy. Acts upstream of or within myoblast fusion involved in skeletal muscle regeneration. Located in plasma membrane. Is integral component of Golgi membrane and integral component of plasma membrane. Is expressed in several structures, including limb; skeletal musculature; somite; and tongue. Human ortholog(s) of this gene implicated in Carey-Fineman-Ziter syndrome. Orthologous to human MYMK (myomaker, myoblast fusion factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 15.9) and CNS E11.5 (RPKM 1.1) See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.21 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (26951648..26962173, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (27061636..27072161, complement)

Chromosome 2 - NC_000068.8 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?

Myocyte-derived Myomaker expression is required for regenerative fusion but exacerbates membrane instability in dystrophic myofibers.
Title: Myocyte-derived Myomaker expression is required for regenerative fusion but exacerbates membrane instability in dystrophic myofibers.
the Myomixer-Myomaker pair controls the critical step in myofiber formation during muscle development.
Title: Control of muscle formation by the fusogenic micropeptide myomixer.
These data reveal that myoblast fusion requires myomaker activity at the plasma membrane and is potentially regulated by proper myomaker trafficking.
Title: Insights into the localization and function of myomaker during myoblast fusion.
This study indicated that myomaker could be used in nonmuscle cells to induce fusion with muscle in vivo, thereby providing a platform to deliver therapeutic material.
Title: In vivo myomaker-mediated heterologous fusion and nuclear reprogramming.
Functional studies showed that miR-491 overexpression suppressed muscle cell differentiation and adult muscle regeneration, while the inhibition of miR-491 promoted myotube differentiation. Taken together, the findings identified miR-491 as a novel negative regulator of myogenic differentiation through targeting myomaker.
Title: miR-491 inhibits skeletal muscle differentiation through targeting myomaker.
data indicate that the majority of myomaker is embedded in the plasma membrane with seven membrane-spanning regions and a required intracellular C-terminal tail.
Title: Structure-function analysis of myomaker domains required for myoblast fusion.
myogenic basic helix-loop-helix (bHLH) transcription factors induce myomaker expression in satellite cells during acute and chronic muscle regeneration.
Title: Myomaker is essential for muscle regeneration.
The findings reveal myomaker (transmembrane protein 8c) as a long-sought myogenic fusion protein that controls mammalian myoblast fusion.
Title: Myomaker is a membrane activator of myoblast fusion and muscle formation.

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Variation

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Alleles

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

Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in myoblast fusion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myoblast fusion involved in skeletal muscle regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle hypertrophy	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi 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
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein myomaker

Names: myoblast fusion maker; transmembrane protein 8C

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_001159602.1 → NP_001153074.1 protein myomaker isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AK003298, BC062145, CX564956

Consensus CDS

CCDS50545.1

UniProtKB/TrEMBL

E9QA72

Related

ENSMUSP00000128491.2, ENSMUST00000163967.2

Conserved Domains (1) summary

pfam12036
Location:4 → 144

DUF3522; Protein of unknown function (DUF3522)
NM_025376.3 → NP_079652.1 protein myomaker isoform 1

See identical proteins and their annotated locations for NP_079652.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK003298, BB839715, BC062145

Consensus CDS

CCDS15823.1

UniProtKB/Swiss-Prot

Q9D1N4

Related

ENSMUSP00000009358.3, ENSMUST00000009358.9

Conserved Domains (1) summary

pfam12036
Location:5 → 185

DUF3522; Protein of unknown function (DUF3522)