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

    Gene ID: 320502, updated on 28-Oct-2024

    Summary

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    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; limb segment; lung; sensory organ; 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, Oct 2024]
    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

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    See Lmod3 in Genome Data Viewer
    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_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2796 Neighboring gene STARR-seq mESC enhancer starr_16779 Neighboring gene STARR-positive B cell enhancer ABC_E1324 Neighboring gene STARR-seq mESC enhancer starr_16780 Neighboring gene ubiquitin-like modifier activating enzyme 3 Neighboring gene ADP-ribosylation factor-like 6 interacting protein 5 Neighboring gene predicted gene, 32191 Neighboring gene STARR-seq mESC enhancer starr_16782 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:97271123-97271316 Neighboring gene FERM domain containing 4B Neighboring gene STARR-seq mESC enhancer starr_16786 Neighboring gene STARR-seq mESC enhancer starr_16788 Neighboring gene STARR-seq mESC enhancer starr_16791 Neighboring gene uncharacterized protein C3orf38 homolog Neighboring gene STARR-seq mESC enhancer starr_16793 Neighboring gene STARR-seq mESC enhancer starr_16794 Neighboring gene STARR-seq mESC enhancer starr_16795 Neighboring gene predicted gene, 46970

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin. Schultz LE, et al. Proc Natl Acad Sci U S A, 2023 Nov 21. PMID 37956287, Free PMC Article
    2. Lmod3 promotes myoblast differentiation and proliferation via the AKT and ERK pathways. Lin FH, et al. Exp Cell Res, 2020 Nov 15. PMID 32980291
    3. Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. Tian L, et al. Dis Model Mech, 2015 Jun. PMID 26035871, Free PMC Article
    4. Control of PD-L1 Expression by Oncogenic Activation of the AKT-mTOR Pathway in Non-Small Cell Lung Cancer. Lastwika KJ, et al. Cancer Res, 2016 Jan 15. PMID 26637667
    5. KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination. Ramirez-Martinez A, et al. Elife, 2017 Aug 9. PMID 28826497, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Lmod3 is required in the fast fibers for sarcomere integrity.
      Title: Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy.
    3. 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC156399

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin monomer 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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle thin filament assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in striated muscle contraction IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    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)

    1. 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

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      97215491..97230137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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 ...

    2. 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 ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9QA62.1 GenPept UniProtKB/Swiss-Prot:E9QA62

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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