The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008] See more...

Aliases for LMOD1 Gene

Aliases for LMOD1 Gene

  • Leiomodin 1 2 3 5
  • Thyroid-Associated Ophthalmopathy Autoantigen 3 4
  • Leiomodin 1 (Smooth Muscle) 2 3
  • Smooth Muscle Leiomodin 3 4
  • Leiomodin, Muscle Form 3 4
  • 64 KDa Autoantigen 1D3 3 4
  • 64 KDa Autoantigen 1D 3 4
  • 64 KDa Autoantigen D1 3 4
  • Leiomodin-1 3 4
  • Thyroid And Eye Muscle Autoantigen D1 (64kD) 3
  • Leimodin 1 (Smooth Muscle) 3
  • SM-LMOD 3
  • SM-Lmod 4
  • SMLMOD 3
  • 64kD 3
  • 1D 3
  • D1 3

External Ids for LMOD1 Gene

Previous GeneCards Identifiers for LMOD1 Gene

  • GC01M199549
  • GC01M197299
  • GC01M198332
  • GC01M199153
  • GC01M198586
  • GC01M200132
  • GC01M201865
  • GC01M173031

Summaries for LMOD1 Gene

Entrez Gene Summary for LMOD1 Gene

  • The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for LMOD1 Gene

LMOD1 (Leiomodin 1) is a Protein Coding gene. Diseases associated with LMOD1 include Visceral Myopathy and Graves' Disease. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is LMOD2.

UniProtKB/Swiss-Prot Summary for LMOD1 Gene

Additional gene information for LMOD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMOD1 Gene

Genomics for LMOD1 Gene

GeneHancer (GH) Regulatory Elements for LMOD1 Gene

Promoters and enhancers for LMOD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMOD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LMOD1 gene promoter:
  • AML1a
  • E47
  • Evi-1
  • FOXO4
  • Hand1
  • HTF
  • LUN-1
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for LMOD1 Gene

Genomic Locations for LMOD1 Gene
chr1:201,896,456-201,946,588
(GRCh38/hg38)
Size:
50,133 bases
Orientation:
Minus strand
chr1:201,865,580-201,915,716
(GRCh37/hg19)
Size:
50,137 bases
Orientation:
Minus strand

Genomic View for LMOD1 Gene

Genes around LMOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMOD1 Gene

Proteins for LMOD1 Gene

  • Protein details for LMOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29536-LMOD1_HUMAN
    Recommended name:
    Leiomodin-1
    Protein Accession:
    P29536
    Secondary Accessions:
    • B1APV6
    • C4AMB1
    • Q68EN2

    Protein attributes for LMOD1 Gene

    Size:
    600 amino acids
    Molecular mass:
    67030 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for LMOD1 Gene

    Alternative splice isoforms for LMOD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMOD1 Gene

Post-translational modifications for LMOD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LMOD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LMOD1 Gene

Domains & Families for LMOD1 Gene

Gene Families for LMOD1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for LMOD1 Gene

Suggested Antigen Peptide Sequences for LMOD1 Gene

GenScript: Design optimal peptide antigens:
  • Thyroid-associated ophthalmopathy autoantigen (LMOD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29536

UniProtKB/Swiss-Prot:

LMOD1_HUMAN :
  • Belongs to the tropomodulin family.
Family:
  • Belongs to the tropomodulin family.
genes like me logo Genes that share domains with LMOD1: view

Function for LMOD1 Gene

Molecular function for LMOD1 Gene

UniProtKB/Swiss-Prot Function:
Mediates nucleation of actin filaments.

Phenotypes From GWAS Catalog for LMOD1 Gene

Gene Ontology (GO) - Molecular Function for LMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005523 tropomyosin binding IBA,IEA 21873635
genes like me logo Genes that share ontologies with LMOD1: view
genes like me logo Genes that share phenotypes with LMOD1: view

Human Phenotype Ontology for LMOD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for LMOD1 Gene

miRTarBase miRNAs that target LMOD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMOD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LMOD1 Gene

Localization for LMOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMOD1 Gene

Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton. Note=Colocalizes with actin filaments in sarcomeres. {ECO:0000250 UniProtKB:A0A0G2K0D3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMOD1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005865 striated muscle thin filament IBA 21873635
GO:0005884 actin filament ISS,IEA --
genes like me logo Genes that share ontologies with LMOD1: view

Pathways & Interactions for LMOD1 Gene

PathCards logo

SuperPathways for LMOD1 Gene

genes like me logo Genes that share pathways with LMOD1: view

Pathways by source for LMOD1 Gene

2 Reactome pathways for LMOD1 Gene

Gene Ontology (GO) - Biological Process for LMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS,IEA --
GO:0030239 myofibril assembly IBA 21873635
GO:0030838 positive regulation of actin filament polymerization IDA 26370058
GO:0045010 actin nucleation IDA 26370058
GO:0051694 pointed-end actin filament capping IEA --
genes like me logo Genes that share ontologies with LMOD1: view

No data available for SIGNOR curated interactions for LMOD1 Gene

Drugs & Compounds for LMOD1 Gene

(12) Drugs for LMOD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for LMOD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMOD1: view

Transcripts for LMOD1 Gene

mRNA/cDNA for LMOD1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(189) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMOD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMOD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b
SP1:
SP2: -

Relevant External Links for LMOD1 Gene

GeneLoc Exon Structure for
LMOD1
ECgene alternative splicing isoforms for
LMOD1

Expression for LMOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LMOD1 Gene

mRNA differential expression in normal tissues according to GTEx for LMOD1 Gene

This gene is overexpressed in Artery - Tibial (x7.7), Esophagus - Muscularis (x5.3), Esophagus - Gastroesophageal Junction (x5.0), Artery - Aorta (x4.8), Artery - Coronary (x4.4), and Colon - Sigmoid (x4.2).

Protein differential expression in normal tissues from HIPED for LMOD1 Gene

This gene is overexpressed in Colon muscle (23.2), Urinary Bladder (10.5), Seminal vesicle (9.5), and Colon (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LMOD1 Gene



Protein tissue co-expression partners for LMOD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMOD1 Gene:

LMOD1

SOURCE GeneReport for Unigene cluster for LMOD1 Gene:

Hs.519075

mRNA Expression by UniProt/SwissProt for LMOD1 Gene:

P29536-LMOD1_HUMAN
Tissue specificity: Detected in lung vascular smooth muscle (at protein level) (PubMed:27144530). Detected in thyroid and extraocular smooth muscle, but not skeletal muscle (PubMed:2026759). Detected in heart, aorta, skeletal muscle, colon, urinary bladder, uterus, stomach, and small intestine (PubMed:11318603).

Evidence on tissue expression from TISSUES for LMOD1 Gene

  • Nervous system(4.6)
  • Thyroid gland(4.2)
  • Muscle(2.4)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with LMOD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LMOD1 Gene

Orthologs for LMOD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMOD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMOD1 33 32
  • 98.93 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LMOD1 33
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmod1 17 33 32
  • 84.2 (n)
rat
(Rattus norvegicus)
Mammalia Lmod1 32
  • 82.91 (n)
cow
(Bos Taurus)
Mammalia LMOD1 33 32
  • 80.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LMOD1 32
  • 79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LMOD1 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMOD1 33 32
  • 70.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMOD1 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmod1 32
  • 60.35 (n)
zebrafish
(Danio rerio)
Actinopterygii CR628365.1 33
  • 39 (a)
OneToMany
lmod1 33
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tmod 33
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-94 33
  • 21 (a)
ManyToMany
tmd-2 33
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 36 (a)
ManyToMany
-- 33
  • 35 (a)
ManyToMany
Species where no ortholog for LMOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMOD1 Gene

ENSEMBL:
Gene Tree for LMOD1 (if available)
TreeFam:
Gene Tree for LMOD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMOD1: view image

Paralogs for LMOD1 Gene

Paralogs for LMOD1 Gene

(3) SIMAP similar genes for LMOD1 Gene using alignment to 1 proteins:

  • LMOD1_HUMAN
genes like me logo Genes that share paralogs with LMOD1: view

Variants for LMOD1 Gene

Sequence variations from dbSNP and Humsavar for LMOD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs777696417 pathogenic, Visceral myopathy 201,899,905(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs1000071324 -- 201,913,362(-) T/C intron_variant
rs1000129425 -- 201,919,991(-) G/A intron_variant
rs1000146966 -- 201,933,691(-) G/C intron_variant
rs1000184121 -- 201,930,511(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LMOD1 Gene

Variant ID Type Subtype PubMed ID
nsv1122442 CNV deletion 24896259
nsv1144423 CNV deletion 24896259
nsv1144424 CNV deletion 24896259
nsv1145394 CNV deletion 24896259
nsv4088 CNV insertion 18451855
nsv521567 CNV loss 19592680

Variation tolerance for LMOD1 Gene

Residual Variation Intolerance Score: 85.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMOD1 Gene

Human Gene Mutation Database (HGMD)
LMOD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMOD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMOD1 Gene

Disorders for LMOD1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for LMOD1 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Additional Disease Information for LMOD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LMOD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LMOD1 Gene

Publications for LMOD1 Gene

  1. Leiomodins: larger members of the tropomodulin (Tmod) gene family. (PMID: 11318603) Conley CA … Fowler VM (Genomics 2001) 3 4 23 56
  2. Cloning and sequencing of a novel 64-kDa autoantigen recognized by patients with autoimmune thyroid disease. (PMID: 2026759) Dong Q … Vassart G (The Journal of clinical endocrinology and metabolism 1991) 3 4 23 56
  3. MEF2C-MYOCD and Leiomodin1 Suppression by miRNA-214 Promotes Smooth Muscle Cell Phenotype Switching in Pulmonary Arterial Hypertension. (PMID: 27144530) Sahoo S … Pagano PJ (PloS one 2016) 3 4 56
  4. How Leiomodin and Tropomodulin use a common fold for different actin assembly functions. (PMID: 26370058) Boczkowska M … Dominguez R (Nature communications 2015) 3 4 56
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56

Products for LMOD1 Gene

Sources for LMOD1 Gene