LMOD3 leiomodin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LMOD3provided by HGNC
Official Full Name: leiomodin 3provided by HGNC
Primary source: HGNC:HGNC:6649
See related: Ensembl:ENSG00000163380 MIM:616112; AllianceGenome:HGNC:6649
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: mouse all
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Genomic context

Location:: 3p14.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (69106065..69122595, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (69142877..69159409, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (69155216..69171746, complement)

Chromosome 3 - NC_000003.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LMOD3 is expressed in the brain and colocalized with major structures involved in the regulation of vigilance states. LMOD proteins are structural proteins and seem to be developmentally regulated.
Title: Kleine-Levin syndrome is associated with LMOD3 variants.
We characterized the clinical features and the genetic status of 4 unrelated adolescent or adult patients with nemaline myopathy due to the missense variant c.1648C>T, p.(Leu550Phe) in the LMOD3 gene, either on both alleles or in trans with another missense variant (c.1004A>G, p.Gln335Arg).
Title: Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
The LMOD3 gene encodes leiomodin 3, a member of the tropomodulin family of proteins, which is expressed in skeletal muscle from the early stages of differentiation and plays a role in actin thin-filament nucleation.
Title: LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.
LMOD3 mutation is associated with congenital myopathy.
Title: Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.
Title: Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Risperidone-related weight gain: genetic and nongenetic predictors.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nemaline myopathy 10 MedGen: C4015360 OMIM: 616165 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

D3S2792E (e-PCR)
- UniSTS:150830

D3S2794E (e-PCR)
- UniSTS:150833

D8S2279 (e-PCR)
- UniSTS:473907

RH92403 (e-PCR)
- UniSTS:91454

D3S2820E (e-PCR)
- UniSTS:150856

SHGC-13209 (e-PCR)
- UniSTS:22119

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D3S2766E (e-PCR)
- UniSTS:42132

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

RH119835 (e-PCR)
- UniSTS:133580

Bdy39e03 (e-PCR)
- UniSTS:45004

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin monomer binding	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin nucleation	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle thin filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in M band	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leiomodin-3

Names: leiomodin 3 (fetal); leiomodin, fetal form

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.

Genomic

NG_041828.2 RefSeqGene

Range

5000..21530

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304418.3 → NP_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

B4DT85, Q0JTT2, Q0VAK6, Q5JPG6, Q8IUK4, Q96LS4

Related

ENSP00000417210.1, ENST00000489031.5

Conserved Domains (2) summary

pfam03250
Location:16 → 96

Tropomodulin

cl39015
Location:253 → 374

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 ...
NM_198271.5 → NP_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)

AC092060, AI014510, AK300096, AL832033, AL832709, BC121019

Consensus CDS

CCDS46862.1

UniProtKB/Swiss-Prot

B4DT85, Q0JTT2, Q0VAK6, Q5JPG6, Q8IUK4, Q96LS4

Related

ENSP00000414670.3, ENST00000420581.7

Conserved Domains (2) summary

pfam03250
Location:16 → 96

Tropomodulin

cl39015
Location:253 → 374

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 ...