Myot myotilin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myotprovided by MGI
Official Full Name: myotilinprovided by MGI
Primary source: MGI:MGI:1889800
See related: Ensembl:ENSMUSG00000024471 AllianceGenome:MGI:1889800
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: Ttid; 5530402I04Rik
Summary: Predicted to enable alpha-actinin binding activity and cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in Z disc. Is expressed in several structures, including embryo mesenchyme; gut; lung; mesonephros; and nervous system. Human ortholog(s) of this gene implicated in muscular dystrophy; myofibrillar myopathy 3; and spheroid body myopathy. Orthologous to human MYOT (myotilin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 26.3), heart adult (RPKM 5.5) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 B3; 18 23.74 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (44467126..44488795)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (44334053..44355740)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Myotilin does not have a significant influence on muscle mass, muscle fiber size, or regulation of muscle contraction. Alternatively, compensatory over-expressions of other elements may compensate for the lack of myotilin.
Title: Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin.
In single-transgenic mutant mice, double-transgenic mice overexpressing myotilin showed more severe muscle degeneration, enhanced myofibrillar aggregation, and earlier onset of aggregation.
Title: Myotilin overexpression enhances myopathology in the LGMD1A mouse model.
either myotilin does not participate in muscle development and basal function maintenance or other proteins serve as structural and functional compensatory molecules when myotilin is absent
Title: Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.
features suggest an important role for myotilin in sarcomere organization.
Title: Characterization of mouse myotilin and its promoter.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables alpha-actinin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendrite self-avoidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myotilin

Names: myofibrillar titin-like Ig domains protein; titin immunoglobulin domain protein

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_001033621.4 → NP_001028793.1 myotilin

See identical proteins and their annotated locations for NP_001028793.1

Status: VALIDATED

Source sequence(s)

AC132130

Consensus CDS

CCDS29228.1

UniProtKB/Swiss-Prot

Q9JIF9

UniProtKB/TrEMBL

A0A509

Related

ENSMUSP00000025349.6, ENSMUST00000025349.12

Conserved Domains (2) summary

cd05892
Location:364 → 438

Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin

pfam07679
Location:248 → 338

I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

44467126..44488795

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526131.5 → XP_006526194.1 myotilin isoform X1

See identical proteins and their annotated locations for XP_006526194.1

Conserved Domains (2) summary

cd05892
Location:365 → 439

Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin

pfam07679
Location:249 → 339

I-set; Immunoglobulin I-set domain
XM_006526132.5 → XP_006526195.1 myotilin isoform X1

See identical proteins and their annotated locations for XP_006526195.1

Conserved Domains (2) summary

cd05892
Location:365 → 439

Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin

pfam07679
Location:249 → 339

I-set; Immunoglobulin I-set domain
XM_006526133.5 → XP_006526196.1 myotilin isoform X2

See identical proteins and their annotated locations for XP_006526196.1

UniProtKB/Swiss-Prot

Q9JIF9

UniProtKB/TrEMBL

A0A509

Related

ENSMUSP00000111160.2, ENSMUST00000115498.2

Conserved Domains (2) summary

cd05892
Location:364 → 438

Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin

pfam07679
Location:248 → 338

I-set; Immunoglobulin I-set domain