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Aliases for TPM3 Gene

Aliases for TPM3 Gene

  • Tropomyosin 3 2 3
  • Tropomyosin-5 3 4
  • CAPM1 3 6
  • CFTD 3 6
  • NEM1 3 6
  • Epididymis Secretory Sperm Binding Protein Li 82p 3
  • Heat-Stable Cytoskeletal Protein 30 KDa 3
  • Alpha-Tropomyosin, Slow Skeletal 3
  • Epididymis Luminal Protein 189 3
  • Cytoskeletal Tropomyosin TM30 3
  • Tropomyosin Alpha-3 Chain 3
  • Tropomyosin Gamma 3
  • Gamma-Tropomyosin 4
  • Tropomyosin-3 4
  • OK/SW-Cl.5 3
  • HEL-S-82p 3
  • HEL-189 3
  • TM30nm 3
  • TPMsk3 3
  • Hscp30 3
  • TM-5 3
  • TM30 3
  • HTM5 4
  • TRK 3
  • TM3 3
  • TM5 3

External Ids for TPM3 Gene

Previous Symbols for TPM3 Gene

  • NEM1

Summaries for TPM3 Gene

Entrez Gene Summary for TPM3 Gene

  • This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for TPM3 Gene

TPM3 (Tropomyosin 3) is a Protein Coding gene. Diseases associated with TPM3 include nemaline myopathy 1, autosomal dominant or recessive and cap myopathy. Among its related pathways are Pathways in cancer and Adrenergic signaling in cardiomyocytes. GO annotations related to this gene include actin binding. An important paralog of this gene is TPM2.

UniProtKB/Swiss-Prot for TPM3 Gene

  • Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments

Gene Wiki entry for TPM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPM3 Gene

Genomics for TPM3 Gene

Genomic Location for TPM3 Gene

Start:
154,155,304 bp from pter
End:
154,194,648 bp from pter
Size:
39,345 bases
Orientation:
Minus strand

Genomic View for TPM3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPM3 Gene

Regulatory Elements for TPM3 Gene

Proteins for TPM3 Gene

  • Protein details for TPM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06753-TPM3_HUMAN
    Recommended name:
    Tropomyosin alpha-3 chain
    Protein Accession:
    P06753
    Secondary Accessions:
    • D3DV71
    • P12324
    • Q2QD06
    • Q5VU58
    • Q5VU63
    • Q5VU66
    • Q5VU71
    • Q5VU72
    • Q8TCG3
    • Q969Q2
    • Q9NQH8

    Protein attributes for TPM3 Gene

    Size:
    285 amino acids
    Molecular mass:
    32950 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta chain. Binds to TMOD1

    Alternative splice isoforms for TPM3 Gene

neXtProt entry for TPM3 Gene

Proteomics data for TPM3 Gene at MOPED

Post-translational modifications for TPM3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys11, Lys13, Lys169, and Lys228

No data available for DME Specific Peptides for TPM3 Gene

Domains for TPM3 Gene

Gene Families for TPM3 Gene

HGNC:
  • TPM :Tropomyosins

Protein Domains for TPM3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P06753

UniProtKB/Swiss-Prot:

TPM3_HUMAN
Domain:
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity:
    • P06753
Family:
  • Belongs to the tropomyosin family.:
    • P06753
genes like me logo Genes that share domains with TPM3: view

Function for TPM3 Gene

Molecular function for TPM3 Gene

GENATLAS Biochemistry: tropomyosin 3,alpha,skeletal muscle and non muscle isoforms (involved in the generation of the TRK oncogene by fusion with NTRK1,dimerizing to form a helical coiled coil binding to actin in the troponin complex (thin filamant) that regulates calcium-dependent binding of actin and myosin and muscle contraction
UniProtKB/Swiss-Prot Function: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments

Gene Ontology (GO) - Molecular Function for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TPM3: view
genes like me logo Genes that share phenotypes with TPM3: view

Animal Models for TPM3 Gene

MGI Knock Outs for TPM3:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TPM3 Gene

Localization for TPM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPM3 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPM3 Gene COMPARTMENTS Subcellular localization image for TPM3 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
extracellular 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 16236705
GO:0002102 podosome --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
genes like me logo Genes that share ontologies with TPM3: view

Pathways for TPM3 Gene

genes like me logo Genes that share pathways with TPM3: view

Gene Ontology (GO) - Biological Process for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0006936 muscle contraction TAS --
GO:0007165 signal transduction --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TPM3: view

Compounds for TPM3 Gene

(1) HMDB Compounds for TPM3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Novoseek inferred chemical compound relationships for TPM3 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 30 2
calcium 0 1
genes like me logo Genes that share compounds with TPM3: view

Transcripts for TPM3 Gene

Unigene Clusters for TPM3 Gene

Tropomyosin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPM3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2:
SP3: -
SP4: -
SP5: -
SP6:

Relevant External Links for TPM3 Gene

GeneLoc Exon Structure for
TPM3
ECgene alternative splicing isoforms for
TPM3

Expression for TPM3 Gene

mRNA expression in normal human tissues for TPM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPM3 Gene

This gene is overexpressed in Muscle - Skeletal (16.2) and Whole Blood (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TPM3 Gene

SOURCE GeneReport for Unigene cluster for TPM3 Gene Hs.644306

genes like me logo Genes that share expressions with TPM3: view

No data available for mRNA Expression by UniProt/SwissProt for TPM3 Gene

Orthologs for TPM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPM3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPM3 35
  • 96.24 (n)
  • 100 (a)
TPM3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPM3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpm3 35
  • 84.74 (n)
  • 86.97 (a)
Tpm3 16
Tpm3 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPM3 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPM3 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPM3 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 88 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.34726 35
zebrafish
(Danio rerio)
Actinopterygii tpm3 35
  • 81.69 (n)
  • 94.72 (a)
tpma 36
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tm1 36
  • 22 (a)
ManyToMany
Tm2 36
  • 46 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lev-11 36
  • 59 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10371 36
  • 67 (a)
ManyToMany
CSA.11015 36
  • 74 (a)
ManyToMany
Species with no ortholog for TPM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TPM3 Gene

ENSEMBL:
Gene Tree for TPM3 (if available)
TreeFam:
Gene Tree for TPM3 (if available)

Paralogs for TPM3 Gene

Paralogs for TPM3 Gene

genes like me logo Genes that share paralogs with TPM3: view

Variants for TPM3 Gene

Sequence variations from dbSNP and Humsavar for TPM3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs7654 -- 154,157,154(-) GACTC(A/C)GCTGT utr-variant-3-prime, nc-transcript-variant
rs1051209 -- 154,170,658(-) GATAA(A/T)CTCAA reference, missense, intron-variant, nc-transcript-variant
rs1051212 -- 154,170,459(-) GACCC(A/G)TGCTG missense, reference, nc-transcript-variant
rs1051215 -- 154,170,449(-) GAGTT(G/T)GCTGA missense, reference, nc-transcript-variant
rs1051220 -- 154,157,663(-) CAGAC(C/T)CTGCT reference, synonymous-codon, utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TPM3 Gene

Variant ID Type Subtype PubMed ID
nsv520398 CNV Gain+Loss 19592680
nsv872451 CNV Gain 21882294
esv2663393 CNV Deletion 23128226
esv29020 CNV Loss 19812545

Relevant External Links for TPM3 Gene

HapMap Linkage Disequilibrium report
TPM3
Human Gene Mutation Database (HGMD)
TPM3
Locus Specific Mutation Databases (LSDB)
TPM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPM3 Gene

Disorders for TPM3 Gene

(2) OMIM Diseases for TPM3 Gene (191030)

UniProtKB/Swiss-Prot

TPM3_HUMAN
  • Nemaline myopathy 1 (NEM1) [MIM:609284]: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years. {ECO:0000269 PubMed:17376686, ECO:0000269 PubMed:24692096, ECO:0000269 PubMed:7704029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving TPM3 is found in thyroid papillary carcinomas. A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3-end of NTRK1.
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:18300303, ECO:0000269 PubMed:19953533, ECO:0000269 PubMed:20951040, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cap myopathy 1 (CAPM1) [MIM:609284]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common. {ECO:0000269 PubMed:18300303, ECO:0000269 PubMed:19487656, ECO:0000269 PubMed:19553118, ECO:0000269 PubMed:24239060, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for TPM3 Gene

Disease -log(P) Hits PubMed IDs
nemaline myopathy autosomal dominant 95.9 3
myopathies nemaline 94.2 10
thyroid papillary carcinoma 63.3 3
tumors 0 2

Relevant External Links for TPM3

GeneTests
TPM3
GeneReviews
TPM3
Genetic Association Database (GAD)
TPM3
Human Genome Epidemiology (HuGE) Navigator
TPM3
genes like me logo Genes that share disorders with TPM3: view

Publications for TPM3 Gene

  1. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (PMID: 7704029) Laing N.G. … Haan E. (Nat. Genet. 1995) 3 4 23
  2. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (PMID: 19953533) Lawlor M.W. … Beggs A.H. (Hum. Mutat. 2010) 3 4 23
  3. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. (PMID: 17376686) PAcnisson-Besnier I. … Laing N. (Neuromuscul. Disord. 2007) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. TPM3 mutation in one of the original cases of cap disease. (PMID: 19487656) Ohlsson M. … Oldfors A. (Neurology 2009) 3 4

Products for TPM3 Gene

Sources for TPM3 Gene

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