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LMOD3 leiomodin 3 [ Homo sapiens (human) ]

Gene ID: 56203, updated on 8-Dec-2018

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 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (69108672..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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nemaline myopathy 10
MedGen: C4015360 OMIM: 616165 GeneReviews: Nemaline Myopathy
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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_001304418.1NP_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)
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    69108672..69122595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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