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TPM1 Gene

protein-coding   GIFtS: 74
GCID: GC15P063334

Tropomyosin 1 (Alpha)

(Previous names: chromosome 15 open reading frame 13, cardiomyopathy, hypertrophic...)
(Previous symbols: C15orf13, CMH3)
  See TPM1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tropomyosin 1 (Alpha)1 2     Tropomyosin 1 (Alpha) Isoform 12
C15orf131 2 3     Tropomyosin 1 (Alpha) Isoform 22
CMH31 2 5     Tropomyosin 1 (Alpha) Isoform 32
Cardiomyopathy, Hypertrophic 31 2     Tropomyosin 1 (Alpha) Isoform 42
TMSA2 3     Tropomyosin 1 (Alpha) Isoform 52
CMD1Y2 5     Tropomyosin 1 (Alpha) Isoform 62
LVNC92 5     Tropomyosin 1 (Alpha) Isoform 72
Chromosome 15 Open Reading Frame 131     Tropomyosin Alpha-1 Chain2
HTM-alpha2     Alpha-tropomyosin3
alpha-tropomyosin2     Tropomyosin-13
Sarcomeric Tropomyosin Kappa2     

External Ids:    HGNC: 120101   Entrez Gene: 71682   Ensembl: ENSG000001404167   OMIM: 1910105   UniProtKB: P094933   

Export aliases for TPM1 gene to outside databases

Previous GC identifers: GC15P059121 GC15P056382 GC15P060914 GC15P061050 GC15P061121 GC15P040157


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 left ventricular noncompaction 9, and tpm1-related familial hypertrophic cardiomyopathy. GO annotations related to this gene include cytoskeletal protein binding and actin binding. An important paralog of this gene is TPM3.

UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493
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 Wiki entry for TPM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPM1 gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TPM1 promoter sequence
   Search Chromatin IP Primers for TPM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.1   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22.1

TPM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPM1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P063334:  view genomic region     (about GC identifiers)

Start:
63,334,831 bp from pter      End:
63,364,114 bp from pter
Size:
29,284 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493 (See protein sequence)
Recommended Name: Tropomyosin alpha-1 chain  
Size: 284 amino acids; 32709 Da
Subunit: Heterodimer of an alpha and a beta 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)
Mass spectrometry: Mass=32875.93; Method=MALDI; Range=1-284 (P09493-3); Source=PubMed:11840567;
Secondary accessions: B7Z5T7 D9YZV2 D9YZV3 D9YZV8 P09494 P10469 Q6DV89 Q6DV90 Q7Z6L8 Q86W64
Q96IK2 Q9UCI1 Q9UCI2 Q9UCY9 Q9Y427
Alternative splicing: 10 isoforms:  P09493-1   P09493-2   P09493-3   P09493-4   P09493-5   P09493-6   P09493-7   P09493-8   
P09493-9   P09493-10   (No experimental confirmation available. Contains a N6-acetyllysine at position 213)

Explore the universe of human proteins at neXtProt for TPM1: NX_P09493

Explore proteomics data for TPM1 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber
    formation in endothelial cells1
  • Ubiquitination2 at Lys77
  • Modification sites at PhosphoSitePlus

  • See TPM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000357.3  NP_001018004.1  NP_001018005.1  NP_001018006.1  NP_001018007.1  NP_001018008.1  NP_001018020.1  

    ENSEMBL proteins: 
     ENSP00000288398   ENSP00000351022   ENSP00000452999   ENSP00000385107   ENSP00000453324  
     ENSP00000350667   ENSP00000452887   ENSP00000453941   ENSP00000452879   ENSP00000267996  
     ENSP00000453062   ENSP00000453955   ENSP00000452977   ENSP00000334624   ENSP00000384315  
     ENSP00000453817   ENSP00000453724   ENSP00000452658   ENSP00000322577   ENSP00000453050  
     ENSP00000453136   ENSP00000452624   ENSP00000453092   ENSP00000452830  
    Reactome Protein details: P09493

    TPM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals TPM1 Proteins
    Novus Biologicals TPM1 Lysates
    Sino Biological Recombinant Protein for TPM1
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for TPM1
    Cloud-Clone Corp. Proteins for TPM1

     
    Search eBioscience for Proteins for TPM1 

     
    antibodies-online proteins for TPM1 (31 products) 

     
    antibodies-online peptides for TPM1

    TPM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TPM1
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    Abcam antibodies for TPM1 (P06753, P09493)
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    ThermoFisher Antibody for TPM1
    antibodies-online antibodies for TPM1 (26 products) 

    TPM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TPM1
    Cloud-Clone Corp. CLIAs for TPM1
    Search eBioscience for ELISAs for TPM1 
    antibodies-online kits for TPM1 (15 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TPM: Tropomyosins

    1 InterPro protein domain:
     IPR000533 Tropomyosin

    Graphical View of Domain Structure for InterPro Entry P09493

    ProtoNet protein and cluster: P09493

    1 Blocks protein domain: IPB000533 Tropomyosin

    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
    Similarity: Belongs to the tropomyosin family


    Find genes that share domains with TPM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPM1_HUMAN, P09493
    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

         Genatlas biochemistry entry for TPM1:
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS12686598
    GO:0005200structural constituent of cytoskeleton TAS12686598
    GO:0008092cytoskeletal protein binding IPI17987659
    GO:0008307structural constituent of muscle TAS8205619
         
    Find genes that share ontologies with TPM1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for TPM1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 
     Synthetic lethal with imatinib 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tpm1):
     cardiovascular system  embryogenesis  growth/size/body  mortality/aging  normal 

    Find genes that share phenotypes with TPM1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TPM1: Tpm1tm1Dfw Tpm1tm1Jse

       genOway: Develop your customized and physiologically relevant rodent model for TPM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TPM1:
    hsa-mir-34a-5p (MIRT025560), hsa-mir-133a-3p (MIRT021693), hsa-mir-124-3p (MIRT023135), hsa-mir-21-5p (MIRT001980), hsa-mir-1 (MIRT001327)

    Block miRNA regulation of human, mouse, rat TPM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TPM1 (see all 9):
    hsa-miR-3173-3p hsa-miR-29c hsa-miR-29a hsa-miR-1271 hsa-miR-183 hsa-miR-33a* hsa-miR-542-3p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidTPM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TPM1
    Predesigned siRNA for gene silencing in human, mouse, rat TPM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TPM1

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): TPM1 (NM_000366)
    Sino Biological Human cDNA Clone for TPM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TPM1
    ESI BIO PureStem Progenitor for TPM1: 
    PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-13744) for TPM1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TPM1_HUMAN, P09493: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    extracellular2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA12686598
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169
    GO:0005862muscle thin filament tropomyosin TAS8205619

    Find genes that share ontologies with TPM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TPM1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    Smooth Muscle Contraction0.47
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    3MicroRNAs in cancer
    MicroRNAs in cancer
    4Cytoskeletal Signaling
    Cytoskeletal Signaling
    5Cardiac muscle contraction
    Cardiac muscle contraction


    Find genes that share SuperPaths with TPM1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TPM1
        Cytoskeletal Signaling

    1 BioSystems Pathway for TPM1
        Striated Muscle Contraction


    2 Reactome Pathways for TPM1
        Smooth Muscle Contraction
    Striated Muscle Contraction


    5 Kegg Pathways  (Kegg details for TPM1):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    MicroRNAs in cancer
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TPM1
    Interactions:

        GeneGlobe Interaction Network for TPM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TPM1 (P094932, 3 ENSP000002679964) via UniProtKB, MINT, STRING, and/or I2D (see all 218)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607092, 3, ENSP000003499604MINT-7899812 I2D: score=2 STRING: ENSP00000349960
    RIPK3Q9Y5722, 3MINT-49142 I2D: score=2 
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0003065positive regulation of heart rate by epinephrine ISS17556658
    GO:0006928cellular component movement TAS16130169
    GO:0006936muscle contraction TAS--
    GO:0006937regulation of muscle contraction TAS3336363

    Find genes that share ontologies with TPM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TPM1

    1 HMDB Compound for TPM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for TPM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 1 17059412 (1)



    Find genes that share compounds with TPM1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TPM1 gene (7 alternative transcripts): 
    NM_000366.5  NM_001018004.1  NM_001018005.1  NM_001018006.1  NM_001018007.1  NM_001018008.1  NM_001018020.1  

    Unigene Clusters for TPM1:

    Tropomyosin 1 (alpha)
    Hs.133892  [show with all ESTs], Hs.602995  [show with all ESTs]
    Unigene Representative Sequences: BX648171, XR_109205
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000288398(uc002alg.3 uc002alh.3 uc002alp.3) ENST00000560975
    ENST00000358278(uc002alk.3) ENST00000560445 ENST00000403994 ENST00000561425
    ENST00000558314 ENST00000357980(uc002alm.3 uc002ali.3 uc002alj.3)
    ENST00000558347 ENST00000559556 ENST00000559397(uc002all.3) ENST00000267996(uc010uie.2)
    ENST00000560970 ENST00000561266 ENST00000559831 ENST00000334895(uc002alr.3 uc002als.3)
    ENST00000404484(uc010uig.2 uc002alt.3) ENST00000558544
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TPM1 (see all 9):
    hsa-miR-3173-3p hsa-miR-29c hsa-miR-29a hsa-miR-1271 hsa-miR-183 hsa-miR-33a* hsa-miR-542-3p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidTPM1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat TPM1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-13744) for TPM1 

    Additional mRNA sequence: 

    AK092594.1 L02922.1 XR_109205.1 XR_111516.1 XR_172085.1 

    Selected DOTS entries (see all 85):

    DT.121039905  DT.100882536  DT.95275871  DT.100882552  DT.95275867  DT.100882524  DT.450872  DT.87007346 
    DT.100039324  DT.100882564  DT.87008664  DT.100882542  DT.100711912  DT.92465100  DT.100882531  DT.100882539 
    DT.102840010  DT.100882547  DT.121039913  DT.92465116  DT.95275901  DT.100882538  DT.100882557  DT.100882560 

    Selected AceView cDNA sequences (see all 1266):

    CD676409 BM845517 F30054 AJ711311 CR626242 C05481 AW839151 CA406982 
    CR603337 BG117073 C05545 AI365668 AA304627 F34756 CA421810 CR597428 
    CD677692 F15685 F30572 BG163509 CR610269 AU077030 F15638 AI792364 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TPM1 (see all 22)    About this scheme

    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:                                -     -     -     -     -                             -                                         -                 -         

    ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b · 14c · 14d ^ 15a · 15b
    SP1:        -     -     -           -           -                 -                                       
    SP2:  -     -     -                 -           -     -     -     -     -     -     -     -               
    SP3:  -     -     -                 -           -           -     -                                       
    SP4:  -     -     -                 -           -                 -                                       
    SP5:        -     -     -           -           -     -     -     -     -     -     -     -               


    ECgene alternative splicing isoforms for TPM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TPM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAAGATTT
    TPM1 Expression
    About this image


    TPM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 27) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 15 entries
             Multinuclear Myocytes Lumbar Back Muscles
             Extraocular Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
             Autopod
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Choroid Plexus
    TPM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPM1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.133892 Hs.602995

    UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TPM1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpm15 tropomyosin 1, alpha   --   9 (36.27 cM) 67022590 
    chicken
    (Gallus gallus)
    Aves TPM11 tropomyosin 1 (alpha) 83.45(n)
    89.79(a)
      396366  NM_205401.1  NP_990732.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    71(a)
    many ↔ many
    GL343805.1(24045-56796)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.3132 X.laevis gene for alpha skeletal tropomyosin 83.07(n)    X61273.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tpma2 alpha-tropomyosin 83.21(n)   30324  AF180892.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tm11 , 3 pole plasm oskar mRNA localization
    actin binding less3
    Tropomyosin 11
    51(a)
    (best of 2)3
    58.48(n)1
    54.45(a)1
      418521  NM_169633.51  NP_732001.31 
    worm
    (Caenorhabditis elegans)
    Secernentea lev-111 lev-11 57.83(n)
    56.89(a)
      173319  NM_001026524.5  NP_001021695.1 
    rice
    (Oryza sativa)
    Liliopsida Os.249962 Transcribed sequence with weak similarity to protein refNP_172140.1 (A.thaliana) hypothetical protein [Arabidopsis thaliana] less 71.54(n)    CA763268.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPM1 gene
    TPM32  TPM42  TPM22  
    8 SIMAP similar genes for TPM1 using alignment to 22 protein entries:     TPM1_HUMAN (see all proteins):
    TPM4    TPM2b    TPM2    TPM3-ROS1    TPM3    OK/SW-cl.5
    HEL-S-82p    DKFZp686J1372

    Find genes that share paralogs with TPM1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for TPM1 (see all 6)
    PGOHUM00000234534 PGOHUM00000239993 PGOHUM00000237972 PGOHUM00000235444 PGOHUM00000262018


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPM1 (see all 727)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701214
    Left ventricular non-compaction 9 (LVNC9)4--see VAR_0701212 E K mis40--------
    VAR_0131354
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0131352 A V mis40--------
    VAR_0439874
    Cardiomyopathy, dilated 1Y (CMD1Y)4--see VAR_0439872 E K mis40--------
    VAR_0701224
    Left ventricular non-compaction 9 (LVNC9)4--see VAR_0701222 K E mis40--------
    rs289342691,2,4
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0076022 mis40--------
    rs289342701,2,4
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0076012 mis40--------
    VAR_0294524
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0294522 E V mis40--------
    VAR_0439864
    Cardiomyopathy, dilated 1Y (CMD1Y)4--see VAR_0439862 E K mis40--------
    rs1048945011,2
    Cpathogenic143397404(+) AGCTGA/GAAGAT 10 K E mis1 int10--------
    rs1048945051,2
    Cpathogenic143397446(+) GCACCA/GAAGAT 10 K E mis1 int10--------

    HapMap Linkage Disequilibrium report for TPM1 (63334831 - 63364114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TPM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428305CNV Gain18775914
    nsv904304CNV Gain21882294

    Human Gene Mutation Database (HGMD): TPM1
    Locus Specific Mutation Databases (LSDB): TPM1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPM1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 191010   
    OMIM disorders: 115196  611878  
    UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 12 diseases for TPM1:    
    About MalaCards
    left ventricular noncompaction 9    tpm1-related familial hypertrophic cardiomyopathy    tpm1-related dilated cardiomyopathy    cardiomyopathy, familial hypertrophic, 3
    cardiomyopathy, dilated, 1s    hypertrophic cardiomyopathy    episodic kinesigenic dyskinesia 1    left ventricular noncompaction
    familial hypertrophic cardiomyopathy    restrictive cardiomyopathy    left ventricular noncompaction 1, with or without congenital heart defects    cardiomyopathy, dilated, 1w

    6 diseases from the University of Copenhagen DISEASES database for TPM1:
    Familial hypertrophic cardiomyopathy     Hypertrophic cardiomyopathy     Dilated cardiomyopathy     Hypersensitivity reaction type I disease
    Myopathy     Distal arthrogryposis

    Find genes that share disorders with TPM1           About GenesLikeMe

    7 Novoseek inferred disease relationships for TPM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathies nemaline 68.6 1 15562513 (1)
    death sudden 48.8 1 12423715 (1)
    death sudden cardiac 31.7 2 12423715 (1), 12778034 (1)
    hypertrophy 30.9 1 16014439 (1)
    breast cancer 0 1 17363372 (1)
    metastasis 0 1 18270520 (1)
    tumors 0 9 17363372 (3), 18270520 (2), 15897890 (1), 16637015 (1)

    GeneTests: TPM1
    GeneReviews: TPM1
    Genetic Association Database (GAD): TPM1
    Human Genome Epidemiology (HuGE) Navigator: TPM1 (17 documents)

    Export disorders for TPM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TPM1 gene, integrated from 10 sources (see all 177):
    (articles sorted by number of sources associating them with TPM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (PubMed id 8205619)1, 2, 3 Thierfelder L.... Seidman C.E. (Cell 1994)
    2. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. (PubMed id 19150014)1, 4, 9 GarcA-a-Castro M....MorA-s C. (Rev Esp Cardiol 2009)
    3. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 20215591)1, 4, 9 Hershberger R.E....Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010)
    4. Refined localization of the human alpha-tropomyosin gene (TPM1) by genetic mapping. (PubMed id 10343096)1, 3, 9 Mogensen J....rglum A.D. (Cytogenet. Cell Genet. 1999)
    5. Polymorphisms in the tropomyosin TPM1 short isoform promoter alter gene expression and are associated with increased risk of metabolic syndrome. (PubMed id 20075843)1, 4, 9 Savill S.A....Thomas T.H. (Am. J. Hypertens. 2010)
    6. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. (PubMed id 19035361)1, 4, 9 Andersen P.S....Bundgaard H. (Hum. Mutat. 2009)
    7. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (Circ Cardiovasc Genet 2009)
    8. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (Eur. J. Hum. Genet. 2009)
    9. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 4, 9 Morita H.... Seidman C.E. (N. Engl. J. Med. 2008)
    10. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. (PubMed id 21551322)1, 2 Probst S....Klaassen S. (Circ Cardiovasc Genet 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7168 HGNC: 12010 AceView: TPM1 Ensembl:ENSG00000140416 euGenes: HUgn7168
    ECgene: TPM1 Kegg: 7168 H-InvDB: TPM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TPM1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TPM1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPM1 gene:
    Search GeneIP for patents involving TPM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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