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... See more...

Aliases for TPM1 Gene

Aliases for TPM1 Gene

  • Tropomyosin 1 2 3 5
  • Cardiomyopathy, Hypertrophic 3 2 3
  • Tropomyosin Alpha-1 Chain 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 1 (Alpha) 2
  • Alpha-Tropomyosin 4
  • Tropomyosin-1 4
  • HEL-S-265 3
  • HTM-Alpha 3
  • CMD1Y 3
  • LVNC9 3
  • CMH3 3
  • TPM1 5

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
  • GC15P071092
  • GC15P071612
  • GC15P071793
  • GC15P072846
  • GC15P064276
  • GC15P066325
  • GC15P066879
  • GC15P067408
  • GC15P067934
  • GC15P068423
  • GC15P068929
  • GC15P070563
  • GC15P073930
  • GC15P075434

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, Familial Hypertrophic, 3 and Cardiomyopathy, Dilated, 1E. Among its related pathways are Cytoskeletal Signaling and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is TPM4.

UniProtKB/Swiss-Prot Summary for TPM1 Gene

  • Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPM1 Gene

Genomics for TPM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPM1

Top Transcription factor binding sites by QIAGEN in the TPM1 gene promoter:
  • AP-1
  • ATF-2

Genomic Locations for TPM1 Gene

Latest Assembly
chr15:63,042,632-63,071,915
(GRCh38/hg38)
Size:
29,284 bases
Orientation:
Plus strand

Previous Assembly
chr15:63,334,946-63,364,114
(GRCh37/hg19 by Entrez Gene)
Size:
29,169 bases
Orientation:
Plus strand

chr15:63,334,831-63,364,114
(GRCh37/hg19 by Ensembl)
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:
    • Homodimer (PubMed:23170982). Heterodimer of an alpha (TPM1, TPM3 or TPM4) and a beta (TPM2) chain (By similarity). 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).
    Miscellaneous:
    • [Isoform 2]: Incomplete sequence.

    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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • Tropomyosin

Suggested Antigen Peptide Sequences for TPM1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54760, highly similar to Rattus norvegicus tropomyosin 1, alpha (Tpm1), transcript variant 7, mRNA (B7Z722_HUMAN)
  • cDNA FLJ26372 fis, clone HRT06233 (C9IZA2_HUMAN)
  • Tropomyosin 1 (Alpha), isoform CRA_g (D9YZV3_HUMAN)
  • Tropomyosin 1 (Alpha) isoform 1 (D9YZV4_HUMAN)
  • Tropomyosin 1 (Alpha), isoform CRA_c (D9YZV5_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
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

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 IEA,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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPM1

Clone products for research

  • Addgene plasmids for TPM1

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. Note=Associates with F-actin stress fibers. {ECO:0000250 UniProtKB:P04692}.

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
plasma membrane 4
cytosol 4
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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 IEA,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

SIGNOR curated interactions for TPM1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003065 positive regulation of heart rate by epinephrine ISS 17556658
GO:0006936 muscle contraction IBA,TAS --
GO:0006937 regulation of muscle contraction TAS 3336363
GO:0007010 cytoskeleton organization TAS 12686598
GO:0007015 actin filament organization IBA 21873635
genes like me logo Genes that share ontologies with TPM1: view

Drugs & Compounds for TPM1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Experimental, Investigational Pharma Target, ligand 123
Phenethyl isothiocyanate Investigational Pharma Target 12
Calcium Nutra 6959
genes like me logo Genes that share compounds with TPM1: view

Transcripts for TPM1 Gene

mRNA/cDNA for TPM1 Gene

19 REFSEQ mRNAs :
36 NCBI additional mRNA sequence :
38 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 TPM1

Clone products for research

  • Addgene plasmids for TPM1

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

Expression for TPM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TPM1 Gene



Protein tissue co-expression partners for TPM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Intestine(4.3)
  • Liver(4.3)
  • Muscle(2.5)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
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

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 29 30
  • 99.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tpm1 30
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TPM1 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TPM1 29
  • 90.49 (n)
-- 30
  • 70 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 86 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia TPM1 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TPM1 29 30
  • 83.45 (n)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 71 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.313 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6696 29
Zebrafish
(Danio rerio)
Actinopterygii tpm2 29
  • 75.92 (n)
TPM1 30
  • 75 (a)
OneToOne
tpma 29
Fruit Fly
(Drosophila melanogaster)
Insecta Tm1 29 30 31
  • 58.48 (n)
ManyToMany
Tm2 30 31
  • 44 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001797 29
  • 57.65 (n)
Worm
(Caenorhabditis elegans)
Secernentea lev-11 29 30
  • 57.83 (n)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os.24996 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11015 30
  • 66 (a)
ManyToMany
CSA.10371 30
  • 62 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5626 29
Species where no ortholog for TPM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for TPM1: view image
Alliance of Genome Resources:
Additional Orthologs for TPM1

Paralogs for TPM1 Gene

Paralogs for TPM1 Gene

(8) SIMAP similar genes for TPM1 Gene using alignment to 22 proteins:

  • TPM1_HUMAN
  • B7Z596_HUMAN
  • B7Z722_HUMAN
  • D9YZV4_HUMAN
  • D9YZV5_HUMAN
  • D9YZV7_HUMAN
  • F5H7S3_HUMAN
  • H0YK20_HUMAN
  • H0YK48_HUMAN
  • H0YKJ4_HUMAN
  • H0YKP3_HUMAN
  • H0YKX5_HUMAN
  • H0YKZ6_HUMAN
  • H0YL42_HUMAN
  • H0YL52_HUMAN
  • H0YL80_HUMAN
  • H0YLS7_HUMAN
  • H0YN06_HUMAN
  • H0YNC7_HUMAN
  • H7BYY1_HUMAN
  • Q6ZN40_HUMAN
  • Q8TCG4_HUMAN

Pseudogenes.org Pseudogenes for TPM1 Gene

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

Variants for TPM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPM1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1001333 Uncertain Significance: Hypertrophic cardiomyopathy 63,064,114(+) G/C
NM_001018005.2(TPM1):c.823G>C (p.Asp275His)
MISSENSE_VARIANT,INTRON
1002513 Uncertain Significance: Hypertrophic cardiomyopathy 63,060,914(+) G/A
NM_001018005.2(TPM1):c.538G>A (p.Glu180Lys)
MISSENSE
1003945 Uncertain Significance: Hypertrophic cardiomyopathy 63,042,938(+) A/C
NM_001018005.2(TPM1):c.109A>C (p.Lys37Gln)
MISSENSE
1005318 Uncertain Significance: Hypertrophic cardiomyopathy 63,042,852(+) T/A
NM_001018005.2(TPM1):c.23T>A (p.Met8Lys)
MISSENSE
1007181 Uncertain Significance: Hypertrophic cardiomyopathy 63,044,093(+) T/C
NM_001018005.2(TPM1):c.181T>C (p.Ser61Pro)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TPM1 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 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)

Additional Variant Information for TPM1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TPM1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for TPM1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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, 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:23170982, ECO:0000269 PubMed:7898523, ECO:0000269 PubMed:8205619, ECO:0000269 PubMed:8523464, ECO:0000269 PubMed:9822100}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.
  • Left ventricular non-compaction 9 (LVNC9) [MIM:611878]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition. {ECO:0000269 PubMed:21551322}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TPM1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TPM1: view

No data available for Genatlas for TPM1 Gene

Publications for TPM1 Gene

  1. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (PMID: 8205619) Thierfelder L … Seidman CE (Cell 1994) 2 3 4 72
  2. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. (PMID: 21551322) Probst S … Klaassen S (Circulation. Cardiovascular genetics 2011) 3 4 72
  3. 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 40
  4. 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 40
  5. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PMID: 20031618) Kaski JP … Elliott PM (Circulation. Cardiovascular genetics 2009) 3 22 40

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