Free for academic non-profit institutions. Other users need a Commercial license

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
  • SM-LMOD 3 4
  • Thyroid And Eye Muscle Autoantigen D1 (64kD) 3
  • Leimodin 1 (Smooth Muscle) 3
  • Leiomodin-1 3
  • SMLMOD 3
  • 64kD 3
  • D1 3
  • 1D 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 Moved To 155310 and Graves' Disease. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. GO annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is LMOD2.

UniProtKB/Swiss-Prot for LMOD1 Gene

  • Mediates nucleation of actin filaments.

Additional gene information for LMOD1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMOD1 Gene

Genomics for LMOD1 Gene

Regulatory Elements for LMOD1 Gene

Enhancers for LMOD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H201911 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25.3 +31.0 31000 7.6 ATF1 FOXA2 FEZF1 ZNF766 GLIS2 GATA2 ELK1 ATF7 FOS DEK SHISA4 LMOD1 IPO9-AS1 ENSG00000223774 SNORA70H RPL10P4 RNPEP IPO9 TIMM17A ENSG00000235121
GH01H201881 1.5 Ensembl ENCODE dbSUPER 27 +60.9 60872 8.1 HDGF ATF1 SIN3A YY1 GLIS2 FOS ATF7 NCOA1 SMARCB1 ZNF592 SHISA4 LMOD1 PPP1R12B GC01M201879 GC01M201880
GH01H201894 1.6 Ensembl ENCODE dbSUPER 22.4 +50.1 50110 4.1 HDGF ARNT ARID4B ZNF2 ZNF143 DEK JUNB REST KAT8 MIER3 LMOD1 TIMM17A ENSG00000223774 GC01M201886
GH01H201924 0.9 dbSUPER 23.3 +21.7 21676 0.6 HDAC1 YBX3 HDGF PKNOX1 ARNT YBX1 NFXL1 GATA2 ZNF366 ETV6 RNPEP ENSG00000273478 KDM5B LMOD1 HNRNPA1P59 RPS27P8 TIMM17A ENSG00000223774 SHISA4 IPO9-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LMOD1 on UCSC Golden Path with GeneCards custom track

Promoters for LMOD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018212 888 2201 HDAC1 HDGF PKNOX1 RB1 FEZF1 ZNF2 RAD21 GLIS2 ZNF366 SCRT2

Genomic Locations for LMOD1 Gene

Genomic Locations for LMOD1 Gene
50,137 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B1APV6
    • C4AMB1
    • Q68EN2

    Protein attributes for LMOD1 Gene

    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


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:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tropomodulin 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 IEA,IBA --
genes like me logo Genes that share ontologies with LMOD1: view
genes like me logo Genes that share phenotypes with LMOD1: view

Animal Model Products

CRISPR Products

miRNA for LMOD1 Gene

miRTarBase miRNAs that target LMOD1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 5
cytosol 5
nucleus 3
plasma membrane 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 TAS,IDA --
GO:0005856 cytoskeleton IEA --
GO:0005865 striated muscle thin filament IBA --
GO:0005884 actin filament ISS,IEA --
genes like me logo Genes that share ontologies with LMOD1: view

Pathways & Interactions 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 IEA,TAS --
GO:0030239 myofibril assembly IBA --
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

Unigene Clusters for LMOD1 Gene

Leiomodin 1 (smooth muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b
SP2: -

Relevant External Links for LMOD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, PaxDb, 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:


SOURCE GeneReport for Unigene cluster for LMOD1 Gene:


mRNA Expression by UniProt/SwissProt for LMOD1 Gene:

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
(Pan troglodytes)
Mammalia LMOD1 34 33
  • 98.93 (n)
(Monodelphis domestica)
Mammalia LMOD1 34
  • 85 (a)
(Mus musculus)
Mammalia Lmod1 33 16 34
  • 84.2 (n)
(Rattus norvegicus)
Mammalia Lmod1 33
  • 82.91 (n)
(Bos Taurus)
Mammalia LMOD1 33 34
  • 80.26 (n)
(Canis familiaris)
Mammalia LMOD1 33
  • 79 (n)
(Ornithorhynchus anatinus)
Mammalia LMOD1 34
  • 68 (a)
(Gallus gallus)
Aves LMOD1 33 34
  • 70.37 (n)
(Anolis carolinensis)
Reptilia LMOD1 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lmod1 33
  • 60.35 (n)
(Danio rerio)
Actinopterygii CR628365.1 34
  • 39 (a)
lmod1 34
  • 37 (a)
fruit fly
(Drosophila melanogaster)
Insecta tmod 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea unc-94 34
  • 21 (a)
tmd-2 34
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
-- 34
  • 35 (a)
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

Gene Tree for LMOD1 (if available)
Gene Tree for LMOD1 (if available)

Paralogs for LMOD1 Gene

Paralogs for LMOD1 Gene

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

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 Sequence Context AA Info Type
rs1000071324 -- 201,913,362(+) GCACT(C/T)TGGGA intron-variant
rs1000129425 -- 201,919,991(+) AAAGA(A/G)TAGAA intron-variant
rs1000146966 -- 201,933,691(+) GGCAG(C/G)GACAA intron-variant
rs1000184121 -- 201,930,511(+) CTTCT(A/C)TTCAT intron-variant
rs1000245830 -- 201,919,657(+) GGCTA(G/T)AAAAG intron-variant

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

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

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)

Relevant External Links for LMOD1 Gene

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

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

Disorders for LMOD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
moved to 155310
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
graves' disease
  • toxic diffuse goiter
leukodystrophy, hypomyelinating, 13
  • hypomyelinating leukodystrophy 13
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
cardiomyopathy, hypertrophic 6
  • hypertrophic cardiomyopathy 6
- elite association - COSMIC cancer census association via MalaCards
Search LMOD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LMOD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 22 60
  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 22 60
  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 60
  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 60
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60

Products for LMOD1 Gene

Sources for LMOD1 Gene

Loading form....