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Aliases for TPM1 Gene

Aliases for TPM1 Gene

  • Tropomyosin 1 (Alpha) 2 3
  • Cardiomyopathy, Hypertrophic 3 2 3
  • Alpha-Tropomyosin 3 4
  • C15orf13 3 4
  • CMD1Y 3 6
  • LVNC9 3 6
  • CMH3 3 6
  • TMSA 3 4
  • Chromosome 15 Open Reading Frame 13 2
  • Sarcomeric Tropomyosin Kappa 3
  • Tropomyosin Alpha-1 Chain 3
  • Tropomyosin-1 4
  • HTM-Alpha 3

External Ids for TPM1 Gene

Previous HGNC Symbols for TPM1 Gene

  • C15orf13
  • CMH3

Previous GeneCards Identifiers for TPM1 Gene

  • GC15P059121
  • GC15P056382
  • GC15P060914
  • GC15P061050
  • GC15P061121
  • GC15P063334
  • GC15P040157

Summaries for TPM1 Gene

Entrez Gene Summary for TPM1 Gene

  • This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for TPM1 Gene

TPM1 (Tropomyosin 1 (Alpha)) is a Protein Coding gene. Diseases associated with TPM1 include cardiomyopathy, familial hypertrophic, 3 and sudden cardiac death multi-gene panels. Among its related pathways are MicroRNAs in cancer and Cytoskeletal Signaling. GO annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is TPM2.

UniProtKB/Swiss-Prot for TPM1 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 TPM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPM1 Gene

Genomics for TPM1 Gene

Regulatory Elements for TPM1 Gene

Transcription factor binding sites by QIAGEN in the TPM1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TPM1 Gene

Start:
63,042,632 bp from pter
End:
63,071,915 bp from pter
Size:
29,284 bases
Orientation:
Plus strand

Genomic View for TPM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPM1 Gene

Proteins for TPM1 Gene

  • Protein details for TPM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09493-TPM1_HUMAN
    Recommended name:
    Tropomyosin alpha-1 chain
    Protein Accession:
    P09493
    Secondary Accessions:
    • B7Z5T7
    • D9YZV2
    • D9YZV3
    • D9YZV8
    • P09494
    • P10469
    • Q6DV89
    • Q6DV90
    • Q7Z6L8
    • Q86W64
    • Q96IK2
    • Q9UCI1
    • Q9UCI2
    • Q9UCY9
    • Q9Y427

    Protein attributes for TPM1 Gene

    Size:
    284 amino acids
    Molecular mass:
    32709 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta chain. Interacts with HRG (via the HRR domain); the interaction contributes to the antiangiogenic properties of the histidine/proline-rich region (HRR) of HRG.

    Alternative splice isoforms for TPM1 Gene

neXtProt entry for TPM1 Gene

Proteomics data for TPM1 Gene at MOPED

Post-translational modifications for TPM1 Gene

  • Phosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber formation in endothelial cells.
  • Ubiquitination at Lys77
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TPM1 (TPM1)

No data available for DME Specific Peptides for TPM1 Gene

Domains for TPM1 Gene

Gene Families for TPM1 Gene

HGNC:
  • TPM :Tropomyosins

Protein Domains for TPM1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P09493

UniProtKB/Swiss-Prot:

TPM1_HUMAN :
  • P09493
Domain:
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity
Family:
  • Belongs to the tropomyosin family.
genes like me logo Genes that share domains with TPM1: view

Function for TPM1 Gene

Molecular function for TPM1 Gene

GENATLAS Biochemistry: tropomyosin 1,alpha,skeletal muscle and non muscle isoforms,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 TPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 12686598
GO:0005200 structural constituent of cytoskeleton TAS 12686598
GO:0005515 protein binding IPI 16189514
GO:0008092 cytoskeletal protein binding IPI 17987659
GO:0008307 structural constituent of muscle TAS 8205619
genes like me logo Genes that share ontologies with TPM1: view
genes like me logo Genes that share phenotypes with TPM1: view

Animal Models for TPM1 Gene

MGI Knock Outs for TPM1:

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TPM1 Gene

Localization for TPM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPM1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPM1 Gene COMPARTMENTS Subcellular localization image for TPM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 4
extracellular 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 12686598
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0005862 muscle thin filament tropomyosin TAS 8205619
genes like me logo Genes that share ontologies with TPM1: view

Pathways for TPM1 Gene

genes like me logo Genes that share pathways with TPM1: view

Pathways by source for TPM1 Gene

Gene Ontology (GO) - Biological Process for TPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0003065 positive regulation of heart rate by epinephrine ISS 17556658
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0006936 muscle contraction TAS --
GO:0006937 regulation of muscle contraction TAS 3336363
genes like me logo Genes that share ontologies with TPM1: view

Compounds for TPM1 Gene

(1) HMDB Compounds for TPM1 Gene

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

(1) Novoseek inferred chemical compound relationships for TPM1 Gene

Compound -log(P) Hits PubMed IDs
calcium 0 1
genes like me logo Genes that share compounds with TPM1: view

Transcripts for TPM1 Gene

Unigene Clusters for TPM1 Gene

Tropomyosin 1 (alpha):
Representative Sequences:

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPM1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a ·
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - -
SP9: - -
SP10: - - - -
SP11: - - - - - - - - - - - - -
SP12: - - - - -
SP13: - - - - - - -
SP14: - - -
SP15: - - - - - - - - - - -
SP16: - - - - - - - - -
SP17:
SP18:
SP19: - - - - - - - - - - - - - - - - - - -
SP20:
SP21:
SP22:

ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b · 14c · 14d ^ 15a · 15b
SP1: - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - - -
SP8: - - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - - - -
SP18: - - - - -
SP19: - - - - - - - - - - - -
SP20:
SP21:
SP22:

Relevant External Links for TPM1 Gene

GeneLoc Exon Structure for
TPM1
ECgene alternative splicing isoforms for
TPM1

Expression for TPM1 Gene

mRNA expression in normal human tissues for TPM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPM1 Gene

This gene is overexpressed in Heart - Left Ventricle (10.8), Heart - Atrial Appendage (5.6), Esophagus - Muscularis (4.5), and Esophagus - Gastroesophageal Junction (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TPM1 Gene

SOURCE GeneReport for Unigene cluster for TPM1 Gene Hs.133892

mRNA Expression by UniProt/SwissProt for TPM1 Gene

P09493-TPM1_HUMAN
Tissue specificity: Detected in primary breast cancer tissues but undetectable in normal breast tissues in Sudanese patients. Isoform 1 is expressed in adult and fetal skeletal muscle and cardiac tissues, with higher expression levels in the cardiac tissues. Isoform 10 is expressed in adult and fetal cardiac tissues, but not in skeletal muscle.
genes like me logo Genes that share expressions with TPM1: view

In Situ Assay Products

Orthologs for TPM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TPM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPM1 35
  • 99.77 (n)
  • 100 (a)
TPM1 36
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 70 (a)
ManyToMany
TPM1 35
  • 90.49 (n)
  • 91.2 (a)
dog
(Canis familiaris)
Mammalia TPM1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpm1 16
Tpm1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TPM1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPM1 35
  • 83.45 (n)
  • 89.79 (a)
TPM1 36
  • 81 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.313 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6696 35
zebrafish
(Danio rerio)
Actinopterygii TPM1 36
  • 75 (a)
OneToOne
tpm2 35
  • 75.92 (n)
  • 81.85 (a)
tpma 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001797 35
  • 57.65 (n)
  • 55.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tm1 35
  • 58.48 (n)
  • 54.45 (a)
Tm1 36
  • 21 (a)
ManyToMany
Tm2 36
  • 44 (a)
ManyToMany
Tm1 37
  • 51 (a)
Tm2 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea lev-11 35
  • 57.83 (n)
  • 56.89 (a)
lev-11 36
  • 54 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.24996 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5626 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10371 36
  • 62 (a)
ManyToMany
CSA.11015 36
  • 66 (a)
ManyToMany
Species with no ortholog for TPM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 TPM1 Gene

ENSEMBL:
Gene Tree for TPM1 (if available)
TreeFam:
Gene Tree for TPM1 (if available)

Paralogs for TPM1 Gene

Paralogs for TPM1 Gene

genes like me logo Genes that share paralogs with TPM1: view

Variants for TPM1 Gene

Sequence variations from dbSNP and Humsavar for TPM1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs6738 -- 63,071,702(-) GTCTC(A/G)GAAGA utr-variant-3-prime, nc-transcript-variant
rs7668 -- 63,066,047(+) CTATT(G/T)TACAG utr-variant-3-prime, intron-variant, downstream-variant-500B
rs8519 -- 63,071,455(-) CTTCT(C/T)CTGCT utr-variant-3-prime, downstream-variant-500B, nc-transcript-variant
rs15880 -- 63,070,826(+) AACCC(C/T)ACGTG intron-variant, downstream-variant-500B, utr-variant-3-prime
rs707602 -- 63,071,538(+) GCTAC(C/T)TTGAA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TPM1 Gene

Variant ID Type Subtype PubMed ID
nsv428305 CNV Gain 18775914
nsv904304 CNV Gain 21882294

Relevant External Links for TPM1 Gene

HapMap Linkage Disequilibrium report
TPM1
Human Gene Mutation Database (HGMD)
TPM1
Locus Specific Mutation Databases (LSDB)
TPM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPM1 Gene

Disorders for TPM1 Gene

(2) OMIM Diseases for TPM1 Gene (191010)

UniProtKB/Swiss-Prot

TPM1_HUMAN
  • Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:7898523, ECO:0000269 PubMed:8205619, ECO:0000269 PubMed:8523464, ECO:0000269 PubMed:9822100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:11273725}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Left ventricular non-compaction 9 (LVNC9) [MIM:611878]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. {ECO:0000269 PubMed:21551322}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for TPM1 Gene

Disease -log(P) Hits PubMed IDs
myopathies nemaline 68.6 1
death sudden 48.8 1
death sudden cardiac 31.7 2
hypertrophy 30.9 1
breast cancer 0 1

Relevant External Links for TPM1

GeneTests
TPM1
GeneReviews
TPM1
Genetic Association Database (GAD)
TPM1
Human Genome Epidemiology (HuGE) Navigator
TPM1
genes like me logo Genes that share disorders with TPM1: view

Publications for TPM1 Gene

  1. Refined localization of the human alpha-tropomyosin gene (TPM1) by genetic mapping. (PMID: 10343096) Mogensen J. … rglum A.D. (Cytogenet. Cell Genet. 1999) 2 3 23
  2. Shared genetic causes of cardiac hypertrophy in children and adults. (PMID: 18403758) Morita H. … Seidman C.E. (N. Engl. J. Med. 2008) 3 23 48
  3. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. (PMID: 19035361) Andersen P.S. … Bundgaard H. (Hum. Mutat. 2009) 3 23 48
  4. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. (PMID: 19150014) GarcA-a-Castro M. … MorA-s C. (Rev Esp Cardiol 2009) 3 23 48
  5. Polymorphisms in the tropomyosin TPM1 short isoform promoter alter gene expression and are associated with increased risk of metabolic syndrome. (PMID: 20075843) Savill S.A. … Thomas T.H. (Am. J. Hypertens. 2010) 3 23 48

Products for TPM1 Gene

Sources for TPM1 Gene

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