Lmod3 leiomodin 3 (fetal) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lmod3provided by MGI
Official Full Name: leiomodin 3 (fetal)provided by MGI
Primary source: MGI:MGI:2444169
See related: Ensembl:ENSMUSG00000044086 AllianceGenome:MGI:2444169
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: 5430424A14Rik
Summary: Predicted to enable actin monomer binding activity and tropomyosin binding activity. Involved in skeletal muscle fiber development. Located in A band. Is expressed in several structures, including ganglia; heart; limb segment; nose; and skeletal musculature. Used to study nemaline myopathy 10. Human ortholog(s) of this gene implicated in nemaline myopathy 10. Orthologous to human LMOD3 (leiomodin 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 11.2), limb E14.5 (RPKM 3.2) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 6 D3; 6 44.92 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (97215491..97230137, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (97238530..97253217, complement)

Chromosome 6 - NC_000072.7 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
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?

Lmod3 promotes myoblast differentiation and proliferation via the AKT and ERK pathways.
Title: Lmod3 promotes myoblast differentiation and proliferation via the AKT and ERK pathways.
Lmod3 is required in the fast fibers for sarcomere integrity.
Title: Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy.
LMOD3 deficiency in mice causes nemaline myopathy. In skeletal muscle, Lmod3 transcription was controlled by SRF and MEF2. LMOD3 and KLHL40 enhanced MRTF-SRF activity.
Title: Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Transposon induced (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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 actin monomer binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tropomyosin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in pointed-end actin filament capping	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of skeletal muscle fiber development	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle thin filament assembly	ISO Inferred from Sequence Orthology more info
involved_in striated muscle contraction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in A band	IDA Inferred from Direct Assay more info	PubMed
located_in M band	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
is_active_in striated muscle thin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in striated muscle thin filament	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: leiomodin-3

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_001081157.2 → NP_001074626.1 leiomodin-3

See identical proteins and their annotated locations for NP_001074626.1

Status: VALIDATED

Source sequence(s)

AC155724

Consensus CDS

CCDS39576.1

UniProtKB/Swiss-Prot

A0AUN8, A0JP45, E9QA62

Related

ENSMUSP00000093315.3, ENSMUST00000095655.4

Conserved Domains (2) summary

pfam03250
Location:16 → 74

Tropomodulin

cl39015
Location:195 → 355

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

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_000072.7 Reference GRCm39 C57BL/6J

Range

97215491..97230137 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506270.5 → XP_006506333.1 leiomodin-3 isoform X1

See identical proteins and their annotated locations for XP_006506333.1

UniProtKB/Swiss-Prot

A0AUN8, A0JP45, E9QA62

Conserved Domains (2) summary

pfam03250
Location:16 → 74

Tropomodulin

cl39015
Location:195 → 355

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_006506271.5 → XP_006506334.1 leiomodin-3 isoform X1

See identical proteins and their annotated locations for XP_006506334.1

UniProtKB/Swiss-Prot

A0AUN8, A0JP45, E9QA62

Conserved Domains (2) summary

pfam03250
Location:16 → 74

Tropomodulin

cl39015
Location:195 → 355

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...