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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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
Chromosome 15 Open Reading Frame 131     Tropomyosin 1 (Alpha) Isoform 72
HTM-alpha2     Tropomyosin Alpha-1 Chain2
LVNC92     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tpm1-related dilated cardiomyopathy, and tpm1-related familial hypertrophic cardiomyopathy, and among its related super-pathways are Muscle contraction and Dilated 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TPM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm, cytoskeleton
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:

  • UniProtKB: Phosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber
    formation in endothelial cells
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09493

  • TPM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TPM1 Protein Expression
    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
    Human Recombinant Protein Products for TPM1: 
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    Novus Biologicals TPM1 Proteins
    Novus Biologicals TPM1 Lysates
    Sino Biological Recombinant Protein for TPM1
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    ProSpec Recombinant Protein for TPM1
    Cloud-Clone Corp. Proteins for TPM1 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

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

    TPM1 for ontologies           About GeneDecksing



    TPM1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TPM1 
    Cloud-Clone Corp. CLIAs for TPM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TPM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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
         
    TPM1 for ontologies           About GeneDecksing


    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  mortality/aging  normal 

    TPM1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TPM1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TPM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPM1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPM1 

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    miRTarBase miRNAs that target TPM1:
    hsa-mir-21 (MIRT001980), hsa-mir-1 (MIRT001327)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPM1
    8/9 QIAGEN miScript miRNA 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
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of TPM1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TPM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    Smooth Muscle Contraction0.43
    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

    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


    3        Reactome Pathways for TPM1
        Smooth Muscle Contraction
    Muscle contraction
    Striated Muscle Contraction


    4         Kegg Pathways  (Kegg details for TPM1):
        Cardiac muscle contraction
    MicroRNAs in cancer
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    TPM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPM1

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

    5/148 Interacting proteins for TPM1 (P094932, 3 ENSP000002679964) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607092, 3, ENSP000003499604MINT-7899812 I2D: score=2 STRING: ENSP00000349960
    RIPK3Q9Y5722, 3MINT-49142 I2D: score=2 
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (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

    TPM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about TPM1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/32 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

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

    24/85 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 

    24/1266 AceView cDNA sequences (see all 1266):

    CA416433 BU739952 BI491611 CD679192 F24271 AL050179 AW090811 CR612660 
    AA211591 CR626242 BM845517 F34756 AA313428 BM698775 AI143150 CA429698 
    AA835185 F25805 F26001 CR621772 CR593513 CR610269 W17219 F28646 

    GeneLoc Exon Structure

    5/22 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPM1 expression in normal human tissues (normalized intensities)      TPM1 embryonic expression: see
    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 
     5/25 selected tissues (see all 25) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Multinuclear Myocytes Lumbar Back Muscles
             Extraocular Muscles
             skeletal muscle ; myocytes   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
             Autopod
             limb/forelimb/fore-paw   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Choroid Plexus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   

    See TPM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TPM1

    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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TPM1 gene from 9/18 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) 82.28(n)
    86.97(a)
      396366  NM_205401.1  NP_990732.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    TPM16
    (see all 3)
    Uncharacterized protein
    (see all 3)
    99(a)
    72(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    AAWZ02037793(3041-7823)
    AAWZ02040256(21-7158)
    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 Tm13 pole plasm oskar mRNA localization
    actin binding
    51(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea lev-116
    Tropomyosin isoforms a/b/d/f
    54(a)
    1 → many
    I(14620759-14631254)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TPM26
    TPM16
    Minor isoform of tropomyosin, binds to and stabili...
    Major isoform of tropomyosin; binds to and stabili...
    24(a)
    21(a)
    many ↔ many
    many ↔ many
    IX(89230-89715)
    XIV(478566-479165)
    rice
    (Oryza sativa)
    Liliopsida Os.249962 Transcribed sequence with weak similarity to protein more 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)
    About This Section
    Paralogs for TPM1 gene
    TPM32  TPM42  TPM22  
    7 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
    DKFZp686J1372

    TPM1 for paralogs           About GeneDecksing


    5/6 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/725 SNPs in TPM1 are shown (see all 725)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0439874
    Cardiomyopathy, dilated 1Y (CMD1Y)4--see VAR_0439872 E K mis40--------
    VAR_0076024
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0076022 E G mis40--------
    VAR_0131354
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0131352 A V mis40--------
    VAR_0439864
    Cardiomyopathy, dilated 1Y (CMD1Y)4--see VAR_0439862 E K mis40--------
    VAR_0294524
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0294522 E V mis40--------
    VAR_0076014
    Cardiomyopathy, familial hypertrophic 3 (CMH3)4--see VAR_0076012 D N mis40--------
    rs1048945011,2
    Cpathogenic143397404(+) AGCTGA/GAAGAT 10 K E mis1 int10--------
    rs1048945051,2
    Cpathogenic143397446(+) GCACCA/GAAGAT 10 K E mis1 int10--------
    rs1048945041,2
    Cpathogenic143410393(+) GCTGGC/TTGAGG 14 A V mis10--------
    rs1048945031,2
    Cpathogenic143414264(+) AGAGCA/GACCTG 14 N D mis10--------

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

  • 20/30 diseases for TPM1 (see all 30):    About MalaCards
    tpm1-related dilated cardiomyopathy    tpm1-related familial hypertrophic cardiomyopathy    cardiomyopathy, familial hypertrophic, 3    familial hypertrophic cardiomyopathy
    pthirus pubis infestation    hypertrophic cardiomyopathy    arteriosclerosis obliterans    left ventricular noncompaction
    restrictive cardiomyopathy    familial dilated cardiomyopathy    hypertensive heart disease    nemaline myopathy
    dilated cardiomyopathy    distal arthrogryposis    arteriosclerosis    syncope
    myopathy    congestive heart failure    noma    transitional cell carcinoma

    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

    TPM1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TPM1 gene, integrated from 9 sources (see all 172):
    (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. (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. (2009)
    3. Coding sequence rare variants identified in MYBPC3, M YH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilat ed cardiomyopathy. (PubMed id 20215591)1, 4, 9 Hershberger R.E....Gonzalez-Quintana J. (2010)
    4. Refined localization of the human alpha-tropomyosin gene (TPM1) by genetic mapping. (PubMed id 10343096)1, 3, 9 Mogensen J....Borglum A.D. (1999)
    5. Polymorphisms in the tropomyosin TPM1 short isoform p romoter alter gene expression and are associated with increased risk of metabol ic syndrome. (PubMed id 20075843)1, 4, 9 Savill S.A....Thomas T.H. (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. (2009)
    7. Prevalence of sarcomere protein gene mutations in pre adolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (2009)
    8. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (2009)
    9. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 4, 9 Morita H.... Seidman C.E. (2008)
    10. A novel custom resequencing array for dilated cardiom yopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7168 HGNC: 12010 AceView: TPM1 Ensembl:ENSG00000140416 euGenes: HUgn7168
    ECgene: TPM1 Kegg: 7168 H-InvDB: TPM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/TPM1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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