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    LMOD3 leiomodin 3 [ Homo sapiens (human) ]

    Gene ID: 56203, updated on 17-Jun-2019

    Summary

    Official Symbol
    LMOD3provided by HGNC
    Official Full Name
    leiomodin 3provided by HGNC
    Primary source
    HGNC:HGNC:6649
    See related
    Ensembl:ENSG00000163380 MIM:616112
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEM10
    Summary
    The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
    Expression
    Biased expression in heart (RPKM 44.5), prostate (RPKM 4.8) and 1 other tissue See more
    Orthologs

    Genomic context

    See LMOD3 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (69106872..69122595, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69156039..69171746, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ubiquitin like modifier activating enzyme 3 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 5 Neighboring gene FERM domain containing 4B Neighboring gene RNA binding motif protein 43 pseudogene 1 Neighboring gene H1 histone family member O oocyte specific pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nemaline myopathy 10
    MedGen: C4015360 OMIM: 616165 GeneReviews: Nemaline Myopathy
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp313F0135

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin monomer binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tropomyosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tropomyosin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    actin nucleation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pointed-end actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striated muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    M band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myofibril IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    striated muscle thin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    striated muscle thin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    leiomodin-3
    Names
    leiomodin 3 (fetal)
    leiomodin, fetal form

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_041828.1 RefSeqGene

      Range
      5001..18924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304418.2NP_001291347.1  leiomodin-3

      See identical proteins and their annotated locations for NP_001291347.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate splice structure in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC092060, AI014510, AK300096, AL832033, BC121019, DA563370
      Consensus CDS
      CCDS46862.1
      UniProtKB/Swiss-Prot
      Q0VAK6
      Related
      ENSP00000417210.1, ENST00000489031.5
      Conserved Domains (2) summary
      pfam03250
      Location:1696
      Tropomodulin; Tropomodulin
      cl26161
      Location:253374
      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. NM_198271.4NP_938012.2  leiomodin-3

      See identical proteins and their annotated locations for NP_938012.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI014510, AK300096, AL832033, AL832709, BC121019
      Consensus CDS
      CCDS46862.1
      UniProtKB/Swiss-Prot
      Q0VAK6
      Related
      ENSP00000414670.2, ENST00000420581.6
      Conserved Domains (2) summary
      pfam03250
      Location:1696
      Tropomodulin; Tropomodulin
      cl26161
      Location:253374
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      69106872..69122595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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