This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have bee... See more...

Aliases for TMOD1 Gene

Aliases for TMOD1 Gene

  • Tropomodulin 1 2 3 5
  • Erythrocyte Tropomodulin 3 4
  • Tropomodulin-1 3 4
  • D9S57E 3 4
  • E-Tmod 3 4
  • ETMOD 2 3
  • TMOD 3 4
  • E-Tropomodulin 3
  • TMOD1 5

External Ids for TMOD1 Gene

Previous HGNC Symbols for TMOD1 Gene

  • D9S57E
  • TMOD

Previous GeneCards Identifiers for TMOD1 Gene

  • GC09P092029
  • GC09P093743
  • GC09P095643
  • GC09P095666
  • GC09P097343
  • GC09P099303
  • GC09P100263
  • GC09P069864

Summaries for TMOD1 Gene

Entrez Gene Summary for TMOD1 Gene

  • This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for TMOD1 Gene

TMOD1 (Tropomodulin 1) is a Protein Coding gene. Diseases associated with TMOD1 include Cardiomyopathy, Familial Hypertrophic, 6 and Cardia Cancer. Among its related pathways are Cytoskeletal Signaling and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is TMOD3.

UniProtKB/Swiss-Prot Summary for TMOD1 Gene

  • Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus.

Gene Wiki entry for TMOD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMOD1 Gene

Genomics for TMOD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMOD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J097501 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 255.5 +2.1 2129 5 MYC NCOR1 IKZF1 ZNF600 JUND ZNF592 ATF2 ZNF223 ZNF10 ATF3 TMOD1 MFSD14C TDRD7 HEMGN VN1R51P ANP32B HSALNG0073117 TSTD2
GH09J097631 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 +133.1 133136 5.8 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 MYC IKZF1 SIX5 JUND ZNF580 NCBP1 TSTD2 LOC105376171 ZNF782 MFSD14C ZNF322P1 ENSG00000224848 ENSG00000254633 XPA TMOD1
GH09J097570 Enhancer 0.8 Ensembl ENCODE dbSUPER 19.3 +70.2 70221 2 NFIC NFIB GATA2 POLR2A TMOD1 TDRD7 TRMO ENSG00000228174 piR-32297-017 TSTD2
GH09J097524 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.8 +26.3 26325 5.8 BRCA1 CEBPB MAX ZNF217 EP300 CTBP1 PRDM1 CUX1 RFX5 IRF4 TMOD1 ENSG00000228174 TDRD7 ANKRD18CP ENSG00000203279 PRXL2C CCDC180 LOC105376168 piR-32297-017 TSTD2
GH09J097468 Enhancer 1 Ensembl ENCODE 11.6 -32.1 -32060 1.8 MYC ZNF654 NFIC YY1 REST DEK TRIM22 CTCF ARNT FOXA2 TMOD1 TDRD7 piR-38352-578 HSALNG0073115
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMOD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMOD1

Top Transcription factor binding sites by QIAGEN in the TMOD1 gene promoter:
  • AREB6
  • E4BP4
  • FOXL1
  • GATA-6
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TMOD1 Gene

Latest Assembly
chr9:97,501,180-97,601,743
(GRCh38/hg38)
Size:
100,564 bases
Orientation:
Plus strand

Previous Assembly
chr9:100,263,462-100,364,025
(GRCh37/hg19 by Entrez Gene)
Size:
100,564 bases
Orientation:
Plus strand

chr9:100,263,462-100,364,030
(GRCh37/hg19 by Ensembl)
Size:
100,569 bases
Orientation:
Plus strand

Genomic View for TMOD1 Gene

Genes around TMOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMOD1 Gene

Proteins for TMOD1 Gene

  • Protein details for TMOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28289-TMOD1_HUMAN
    Recommended name:
    Tropomodulin-1
    Protein Accession:
    P28289
    Secondary Accessions:
    • B2RB77
    • Q5T7W3
    • Q9BUF1

    Protein attributes for TMOD1 Gene

    Size:
    359 amino acids
    Molecular mass:
    40569 Da
    Quaternary structure:
    • Binds to the N-terminus of isoforms 2/3 of TPM3 and to actin.

    Three dimensional structures from OCA and Proteopedia for TMOD1 Gene

    Alternative splice isoforms for TMOD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMOD1 Gene

Post-translational modifications for TMOD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMOD1 Gene

No data available for DME Specific Peptides for TMOD1 Gene

Domains & Families for TMOD1 Gene

Gene Families for TMOD1 Gene

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

Protein Domains for TMOD1 Gene

InterPro:
Blocks:
  • Tropomodulin

Suggested Antigen Peptide Sequences for TMOD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38429 fis, clone FEBRA2013465, highly similar to Tropomodulin-1 (Q5T7W3_HUMAN)
  • Erythrocyte tropomodulin (TMOD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28289

UniProtKB/Swiss-Prot:

TMOD1_HUMAN :
  • Belongs to the tropomodulin family.
Family:
  • Belongs to the tropomodulin family.
genes like me logo Genes that share domains with TMOD1: view

Function for TMOD1 Gene

Molecular function for TMOD1 Gene

UniProtKB/Swiss-Prot Function:
Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus.

Phenotypes From GWAS Catalog for TMOD1 Gene

Gene Ontology (GO) - Molecular Function for TMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IDA 26370058
GO:0005523 tropomyosin binding IBA 21873635
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with TMOD1: view
genes like me logo Genes that share phenotypes with TMOD1: view

Animal Models for TMOD1 Gene

MGI Knock Outs for TMOD1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMOD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMOD1 Gene

Localization for TMOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMOD1 Gene

Cytoplasm, cytoskeleton. Note=In myofibrils with sarcomeric structure, localizes to the pointed end of actin thin filaments (PubMed:25250574). {ECO:0000269 PubMed:25250574}.

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 TMOD1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005865 striated muscle thin filament IDA 25250574
GO:0005884 actin filament IDA 26370058
genes like me logo Genes that share ontologies with TMOD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMOD1 Gene

Pathways & Interactions for TMOD1 Gene

genes like me logo Genes that share pathways with TMOD1: view

Pathways by source for TMOD1 Gene

1 Sino Biological pathway for TMOD1 Gene
1 BioSystems pathway for TMOD1 Gene
2 Reactome pathways for TMOD1 Gene
1 Cell Signaling Technology pathway for TMOD1 Gene

SIGNOR curated interactions for TMOD1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for TMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA 21873635
GO:0007015 actin filament organization IBA 21873635
GO:0008344 adult locomotory behavior IEA --
GO:0030049 muscle filament sliding TAS --
GO:0030239 myofibril assembly IBA 21873635
genes like me logo Genes that share ontologies with TMOD1: view

Drugs & Compounds for TMOD1 Gene

No Compound Related Data Available

Transcripts for TMOD1 Gene

mRNA/cDNA for TMOD1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMOD1

Alternative Splicing Database (ASD) splice patterns (SP) for TMOD1 Gene

No ASD Table

Relevant External Links for TMOD1 Gene

GeneLoc Exon Structure for
TMOD1

Expression for TMOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMOD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMOD1 Gene

This gene is overexpressed in Muscle - Skeletal (x6.9), Heart - Left Ventricle (x5.5), and Heart - Atrial Appendage (x4.4).

Protein differential expression in normal tissues from HIPED for TMOD1 Gene

This gene is overexpressed in Heart (21.4) and Fetal heart (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMOD1 Gene



Protein tissue co-expression partners for TMOD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMOD1

SOURCE GeneReport for Unigene cluster for TMOD1 Gene:

Hs.404289

mRNA Expression by UniProt/SwissProt for TMOD1 Gene:

P28289-TMOD1_HUMAN
Tissue specificity: Highly expressed in the erythrocyte, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for TMOD1 Gene

  • Nervous system(4.8)
  • Muscle(3.5)
  • Heart(3.3)
  • Blood(2.6)
  • Adrenal gland(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with TMOD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMOD1 Gene

Orthologs for TMOD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMOD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMOD1 29 30
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMOD1 29 30
  • 92.11 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMOD1 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TMOD1 29 30
  • 90.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmod1 29 16 30
  • 89.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmod1 29
  • 89.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMOD1 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMOD1 29 30
  • 77.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 85 (a)
OneToMany
-- 30
  • 81 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmod1 29
  • 73.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmod1 29 30
  • 69.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000969 29
  • 50.2 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta tmod 29
  • 49.18 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-94 29
  • 47.56 (n)
Species where no ortholog for TMOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 TMOD1 Gene

ENSEMBL:
Gene Tree for TMOD1 (if available)
TreeFam:
Gene Tree for TMOD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMOD1: view image
Alliance of Genome Resources:
Additional Orthologs for TMOD1

Paralogs for TMOD1 Gene

Paralogs for TMOD1 Gene

(7) SIMAP similar genes for TMOD1 Gene using alignment to 2 proteins:

  • TMOD1_HUMAN
  • Q5T7W3_HUMAN
genes like me logo Genes that share paralogs with TMOD1: view

Variants for TMOD1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMOD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TMOD1 Gene

Variant ID Type Subtype PubMed ID
dgv1494e214 CNV gain 21293372
esv3621190 CNV gain 21293372
nsv1125063 CNV duplication 24896259
nsv1137485 CNV deletion 24896259
nsv1147546 CNV duplication 26484159

Variation tolerance for TMOD1 Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMOD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMOD1
Leiden Open Variation Database (LOVD)
TMOD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMOD1 Gene

Disorders for TMOD1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TMOD1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TMOD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMOD1

genes like me logo Genes that share disorders with TMOD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMOD1 Gene

Publications for TMOD1 Gene

  1. Molecular cloning and characterization of human fetal liver tropomodulin. A tropomyosin-binding protein. (PMID: 1370827) Sung LA … Chien S (The Journal of biological chemistry 1992) 2 3 4 22
  2. Genomic organization of mouse and human erythrocyte tropomodulin genes encoding the pointed end capping protein for the actin filaments. (PMID: 11054557) Chu X … Sung LA (Gene 2000) 3 4 22
  3. Erythrocyte tropomodulin binds to the N-terminus of hTM5, a tropomyosin isoform encoded by the gamma-tropomyosin gene. (PMID: 8002995) Sung LA … Lin JJ (Biochemical and biophysical research communications 1994) 3 4 22
  4. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (PMID: 25250574) Yuen M … Clarke NF (The Journal of clinical investigation 2014) 3 4
  5. Mapping the tropomyosin isoform 5 binding site on human erythrocyte tropomodulin: further insights into E-Tmod/TM5 interaction. (PMID: 16297372) Vera C … Sung LA (Archives of biochemistry and biophysics 2005) 3 22

Products for TMOD1 Gene

Sources for TMOD1 Gene