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Aliases for TPM1 Gene

Aliases for TPM1 Gene

  • Tropomyosin 1 2 3 5
  • Cardiomyopathy, Hypertrophic 3 2 3
  • Tropomyosin 1 (Alpha) 2 3
  • Alpha-Tropomyosin 3 4
  • C15orf13 3 4
  • TMSA 3 4
  • Chromosome 15 Open Reading Frame 13 2
  • Epididymis Secretory Protein Li 265 3
  • Sarcomeric Tropomyosin Kappa 3
  • Tropomyosin Alpha-1 Chain 3
  • Tropomyosin-1 4
  • HEL-S-265 3
  • HTM-Alpha 3
  • CMD1Y 3
  • LVNC9 3
  • CMH3 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
  • GC15P063424
  • GC15P063775
  • GC15P064276
  • GC15P066325
  • GC15P066879
  • GC15P067408

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) is a Protein Coding gene. Diseases associated with TPM1 include Cardiomyopathy, Hypertrophic, 3 and Cardiomyopathy, Dilated, 1E. Among its related pathways are Striated Muscle Contraction and Dilated cardiomyopathy (DCM). 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

Additional gene information for TPM1 Gene

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

Genomics for TPM1 Gene

Regulatory Elements for TPM1 Gene

Enhancers for TPM1 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
GH15H062893 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -145.0 -144977 7 HDGF PKNOX1 FOXA2 ZFP64 SIN3A YBX1 ZBTB7B YY1 ELK1 ZNF207 TPM1 TPM1-AS MIR190A ENSG00000259727 PIR56499
GH15H062885 1.4 Ensembl ENCODE dbSUPER 19.9 -155.7 -155658 2 ELF3 TBP FOXA2 ARID4B DMAP1 ZSCAN9 RAD21 RARA YY1 SLC30A9 TPM1 LOC105370854 ENSG00000259727
GH15H063121 1.1 ENCODE 24.4 +79.6 79598 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YBX1 ZNF2 ZBTB7B YY1 TPM1 TPM1-AS LACTB FBXL22 RPS27L USP3-AS1 APH1B CA12
GH15H063072 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +32.8 32831 5 HDAC1 TAL1 MAX ZNF175 TCF12 ZNF316 GATA2 POLR2A NFE2 ATF7 TPM1 APH1B MIR190A LACTB ENSG00000259627 ENSG00000259672
GH15H063037 1.4 ENCODE dbSUPER 16.1 +4.8 4775 20 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 RPS27L TPM1 VPS13C TPM1-AS RAB8B LACTB GC15P068151 GC15P068952 GC15P068786
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TPM1 on UCSC Golden Path with GeneCards custom track

Promoters for TPM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000277877 1368 4001 TBP ZSCAN4 ARID4B SIN3A FEZF1 RAD21 YY1 GLIS2 ELK1 ZNF366

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

Genomic Location for TPM1 Gene

Chromosome:
15
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

Genes around TPM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (By similarity). Interacts (via N-terminus) with LMOD2 (via N-terminus) and TMOD1 (via N-terminus) (PubMed:26873245).

    Three dimensional structures from OCA and Proteopedia for TPM1 Gene

    Alternative splice isoforms for TPM1 Gene

neXtProt entry for TPM1 Gene

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 posLast=7777
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TPM1 Gene

Domains & Families for TPM1 Gene

Gene Families for TPM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TPM1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P09493

UniProtKB/Swiss-Prot:

TPM1_HUMAN :
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
  • Belongs to the tropomyosin family.
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.

Phenotypes From GWAS Catalog for TPM1 Gene

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

Human Phenotype Ontology for TPM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TPM1
  • Applied Biological Materials Clones for TPM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 TPM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
See all subcellular structures

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 IEA --
GO:0005829 cytosol IDA,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 & Interactions 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

No data available for SIGNOR curated interactions for TPM1 Gene

Drugs & Compounds for TPM1 Gene

(2) Drugs for TPM1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 12
calcium Nutra 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TPM1
  • Applied Biological Materials Clones for TPM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TPM1 Gene

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

This gene is overexpressed in Heart - Left Ventricle (x10.8), Heart - Atrial Appendage (x5.6), Esophagus - Muscularis (x4.5), and Esophagus - Gastroesophageal Junction (x4.0).

Protein differential expression in normal tissues from HIPED for TPM1 Gene

This gene is overexpressed in Seminal vesicle (17.2), Colon muscle (6.5), and Urinary Bladder (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TPM1 Gene



Protein tissue co-expression partners for TPM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TPM1 Gene:

TPM1

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.

Evidence on tissue expression from TISSUES for TPM1 Gene

  • Heart(5)
  • Nervous system(4.9)
  • Intestine(4.8)
  • Liver(4.8)
  • Muscle(4.8)
  • Eye(3.9)
  • Kidney(3.8)
  • Lung(3.5)
  • Stomach(3.2)
  • Pancreas(3)
  • Skin(2.5)
  • Bone(2.4)
  • Gall bladder(2.3)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with TPM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TPM1 Gene

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 33 34
  • 99.77 (n)
mouse
(Mus musculus)
Mammalia Tpm1 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPM1 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPM1 33
  • 90.49 (n)
-- 34
  • 70 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia TPM1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPM1 33 34
  • 83.45 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6696 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.313 33
zebrafish
(Danio rerio)
Actinopterygii tpm2 33
  • 75.92 (n)
TPM1 34
  • 75 (a)
OneToOne
tpma 33
fruit fly
(Drosophila melanogaster)
Insecta Tm1 35 33 34
  • 58.48 (n)
Tm2 35 34
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001797 33
  • 57.65 (n)
worm
(Caenorhabditis elegans)
Secernentea lev-11 33 34
  • 57.83 (n)
rice
(Oryza sativa)
Liliopsida Os.24996 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11015 34
  • 66 (a)
ManyToMany
CSA.10371 34
  • 62 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5626 33
Species where no ortholog for TPM1 was found in the sources mined by GeneCards:
  • 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

Variants for TPM1 Gene

Sequence variations from dbSNP and Humsavar for TPM1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs104894501 Pathogenic, Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878] 63,044,030(+) AGCTG(A/G/T)AAGAT intron-variant, reference, missense, stop-gained
rs104894502 Pathogenic, Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196] 63,060,915(+) TGCAG(A/G/T)GGAGC reference, missense
rs104894505 Pathogenic, Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878] 63,044,072(+) GCACC(A/G)AAGAT intron-variant, reference, missense
rs199476306 Likely pathogenic, Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196] 63,044,100(+) TGAGG(C/T)TCTCA intron-variant, reference, missense
rs199476315 Pathogenic, Left ventricular non-compaction 9 (LVNC9) [MIM:611878] 63,061,723(+) GTGCC(A/G)AGCTT intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1035441 CNV gain 25217958
nsv428305 CNV gain 18775914

Variation tolerance for TPM1 Gene

Residual Variation Intolerance Score: 27.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPM1 Gene

Human Gene Mutation Database (HGMD)
TPM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPM1

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

Disorders for TPM1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TPM1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 3
  • hypertrophic cardiomyopathy 3
cardiomyopathy, dilated, 1e
  • cardiomyopathy, dilated, 1s
myh7-related dilated cardiomyopathy
  • cmd1s
scn5a-associated dilated cardiomyopathy
  • cardiomyopathy, dilated, 1e
scn5a-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1e
- elite association - COSMIC cancer census association via MalaCards
Search TPM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPM1_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for TPM1

Genetic Association Database (GAD)
TPM1
Human Genome Epidemiology (HuGE) Navigator
TPM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPM1
genes like me logo Genes that share disorders with TPM1: view

No data available for Genatlas for TPM1 Gene

Publications for TPM1 Gene

  1. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger RE … Gonzalez-Quintana J (Circulation. Cardiovascular genetics 2010) 3 22 45 60
  2. Polymorphisms in the tropomyosin TPM1 short isoform promoter alter gene expression and are associated with increased risk of metabolic syndrome. (PMID: 20075843) Savill SA … Thomas TH (American journal of hypertension 2010) 3 22 45 60
  3. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. (PMID: 19035361) Andersen PS … Bundgaard H (Human mutation 2009) 3 22 45 60
  4. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. (PMID: 19150014) García-Castro M … Morís C (Revista espanola de cardiologia 2009) 3 22 45 60
  5. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) Møller DV … Køber L (European journal of human genetics : EJHG 2009) 3 22 45 60

Products for TPM1 Gene

  • Addgene plasmids for TPM1

Sources for TPM1 Gene

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