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    TPM3 tropomyosin 3 [ Homo sapiens (human) ]

    Gene ID: 7170, updated on 18-Sep-2016
    Official Symbol
    TPM3provided by HGNC
    Official Full Name
    tropomyosin 3provided by HGNC
    Primary source
    HGNC:HGNC:12012
    See related
    Ensembl:ENSG00000143549 HPRD:01840; MIM:191030; Vega:OTTHUMG00000035853
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TM3; TM5; TRK; CFTD; NEM1; TM-5; TM30; CAPM1; TM30nm; TPMsk3; hscp30; HEL-189; HEL-S-82p; OK/SW-cl.5
    Summary
    This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
    Orthologs
    Location:
    1q21.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (154155304..154192135, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154127780..154164611, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nucleoporin 210 like Neighboring gene ribosomal protein S7 pseudogene 2 Neighboring gene microRNA 5698 Neighboring gene RNA, 7SL, cytoplasmic 431, pseudogene Neighboring gene microRNA 190b Neighboring gene chromosome 1 open reading frame 189

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Exposure of human skin fibroblasts to HIV-1 protease induces the degradation of the vimentin filament network and the disappearance of the tropomyosin isoforms microfilament network PubMed

    Go to the HIV-1, Human Interaction Database

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
      Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    • Thyroid cancer, organism-specific biosystem (from KEGG)
      Thyroid cancer, organism-specific biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
    • Thyroid cancer, conserved biosystem (from KEGG)
      Thyroid cancer, conserved biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC3261, FLJ41118, MGC14582, MGC72094

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    movement of cell or subcellular component TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle contraction TAS
    Traceable Author Statement
    more info
     
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle thin filament tropomyosin TAS
    Traceable Author Statement
    more info
    PubMed 
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    tropomyosin alpha-3 chain
    Names
    alpha-tropomyosin, slow skeletal
    cytoskeletal tropomyosin TM30
    epididymis luminal protein 189
    epididymis secretory sperm binding protein Li 82p
    heat-stable cytoskeletal protein 30 kDa
    tropomyosin gamma
    tropomyosin-5

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008621.1 RefSeqGene

      Range
      5001..41830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001043351.1NP_001036816.1  tropomyosin alpha-3 chain isoform Tpm3.2cy

      See identical proteins and their annotated locations for NP_001036816.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.2, also known as variant 4) lacks an exon and contains an alternate exon in the central coding region, but maintains the reading frame, compared to variant Tpm3.1. The encoded isoform (Tpm3.2cy, also known as isoform 4 or Tm5NM2) is the same length as isoform Tpm3.1cy but differs in the sequence.
      Source sequence(s)
      AA863064, AL537561, AL590431, BC000771, DA472065
      Consensus CDS
      CCDS41400.1
      UniProtKB/Swiss-Prot
      P06753
      UniProtKB/TrEMBL
      A0A0S2Z4I4
      Related
      ENSP00000339035, OTTHUMP00000034171, ENST00000330188, OTTHUMT00000087618
      Conserved Domains (2) summary
      pfam00261
      Location:12246
      Tropomyosin; Tropomyosin
      pfam06009
      Location:150229
      Laminin_II; Laminin Domain II
    2. NM_001043352.1NP_001036817.1  tropomyosin alpha-3 chain isoform Tpm3.7cy

      See identical proteins and their annotated locations for NP_001036817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.7, also known as variant 3) uses an alternate splice site in the 3' coding region, compared to variant Tpm3.1. The encoded isoform (Tpm3.7cy, also known as isoform 3, Tm5NM7, or TC22), is shorter and has a distinct C-terminus, compared to isoform Tpm3.1cy.
      Source sequence(s)
      AA863064, AK123113, AL590431, AY004867, BM674269, DA472065
      Consensus CDS
      CCDS41402.1
      UniProtKB/Swiss-Prot
      P06753
      Related
      ENSP00000357517, OTTHUMP00000218071, ENST00000368531, OTTHUMT00000360306
      Conserved Domains (1) summary
      pfam00261
      Location:12245
      Tropomyosin; Tropomyosin
    3. NM_001043353.1NP_001036818.1  tropomyosin alpha-3 chain isoform Tpm3.4cy

      See identical proteins and their annotated locations for NP_001036818.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.4, also known as variant 5) lacks an exon and contains an alternate exon in the central coding region, and uses an alternate splice site in the 3' coding region, compared to variant Tpm3.1. The encoded isoform (Tpm3.4cy, also known as isoform 5 or Tm5NM4) is shorter and has a distinct C-terminus, compared to isoform Tpm3.1cy.
      Source sequence(s)
      AA863064, AK123113, AL590431, BG706843, BI546300, BM674269, BX419658, DA472065
      Consensus CDS
      CCDS41401.1
      UniProtKB/Swiss-Prot
      P06753
      Related
      ENSP00000357518, OTTHUMP00000034172, ENST00000323144, OTTHUMT00000087619
      Conserved Domains (1) summary
      pfam00261
      Location:12245
      Tropomyosin; Tropomyosin
    4. NM_001278188.1NP_001265117.1  tropomyosin alpha-3 chain isoform 6

      See identical proteins and their annotated locations for NP_001265117.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' coding region, compared to variant Tpm3.1, and initiates translation at an alternate upstream start codon. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform Tpm3.1cy.
      Source sequence(s)
      AA863064, AK298678, AL590431, DA472065
      UniProtKB/TrEMBL
      B4DQ80
      Conserved Domains (1) summary
      pfam00261
      Location:22180
      Tropomyosin; Tropomyosin
    5. NM_001278189.1NP_001265118.1  tropomyosin alpha-3 chain isoform Tpm3.5cy

      See identical proteins and their annotated locations for NP_001265118.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.5, also known as variant 7) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant Tpm3.1. The encoded isoform (Tpm3.5cy, also known as isoform 7 or Tm5NM5) is the same length as isoform Tpm3.1cy but has a distinct C-terminus.
      Source sequence(s)
      AA863064, AF474157, AL590431, DA472065
      Consensus CDS
      CCDS60275.1
      UniProtKB/Swiss-Prot
      P06753
      Related
      ENSP00000357520, OTTHUMP00000034021, ENST00000328159, OTTHUMT00000087276
      Conserved Domains (2) summary
      pfam00261
      Location:12246
      Tropomyosin; Tropomyosin
      pfam07851
      Location:144238
      TMPIT; TMPIT-like protein
    6. NM_001278190.1NP_001265119.1  tropomyosin alpha-3 chain isoform 8

      See identical proteins and their annotated locations for NP_001265119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate exon in the central coding region, but maintains the reading frame, compared to variant Tpm3.1. The encoded isoform (8) is shorter than isoform Tpm3.1cy.
      Source sequence(s)
      AA863064, AL590431, BQ933569, DA472065
      Consensus CDS
      CCDS72922.1
      UniProtKB/TrEMBL
      A0A087WWU8
      Related
      ENSP00000480520, ENST00000611659
      Conserved Domains (1) summary
      pfam00261
      Location:12225
      Tropomyosin; Tropomyosin
    7. NM_001278191.1NP_001265120.1  tropomyosin alpha-3 chain isoform 9

      See identical proteins and their annotated locations for NP_001265120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant Tpm3.1. It initiates translation at a downstream in-frame start codon. The encoded isoform (9) is shorter than isoform Tpm3.1cy.
      Source sequence(s)
      AA863064, AL590431, BC000771, BF967161, DA209890
      Consensus CDS
      CCDS60274.1
      UniProtKB/Swiss-Prot
      P06753
      Related
      ENSP00000307712, OTTHUMP00000034173, ENST00000302206, OTTHUMT00000087620
      Conserved Domains (1) summary
      pfam06009
      Location:60139
      Laminin_II; Laminin Domain II
    8. NM_152263.3NP_689476.2  tropomyosin alpha-3 chain isoform Tpm3.12st

      See identical proteins and their annotated locations for NP_689476.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.12, also known as variant 1) differs in the 5' and 3' UTRs and contains multiple differences in the coding region, compared to variant Tpm3.1. It represents use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (Tpm3.12st, also known as isoform 1 or alpha s Tm) is longer and has distinct N- and C- termini, compared to isoform Tpm3.1cy. The encoded protein is the fast skeletal muscle isoform.
      Source sequence(s)
      AJ573307, AL590431, BC008425, BC050470, DA900740
      Consensus CDS
      CCDS41403.1
      UniProtKB/Swiss-Prot
      P06753
      Related
      ENSP00000357516, OTTHUMP00000034016, ENST00000368530, OTTHUMT00000087271
      Conserved Domains (3) summary
      pfam00261
      Location:49283
      Tropomyosin; Tropomyosin
      pfam07851
      Location:181275
      TMPIT; TMPIT-like protein
      pfam16526
      Location:1473
      CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
    9. NM_153649.3NP_705935.1  tropomyosin alpha-3 chain isoform Tpm3.1cy

      See identical proteins and their annotated locations for NP_705935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.1, also known as variant 2) encodes isoform Tpm3.1cy (also known as Tm5NM1, TM-5, isoform 2, or TM30nm).
      Source sequence(s)
      AA863064, AL590431, BC000771, DA472065
      Consensus CDS
      CCDS1060.1
      UniProtKB/Swiss-Prot
      P06753
      UniProtKB/TrEMBL
      A0A0S2Z4G4
      Related
      ENSP00000357521, OTTHUMP00000034019, ENST00000368533, OTTHUMT00000087274
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin; Tropomyosin

    RNA

    1. NR_103460.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) represents use of an alternate promoter and does not share any exons with variant Tpm3.1, but shares exons with variant Tpm3.12. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant Tpm3.12, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA429717, BC008425, BM674651, DA900740
    2. NR_103461.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) uses an alternate splice site at an internal exon, compared to variant Tpm3.1. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant Tpm3.1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA863064, AL590431, BC000771, BU956481, DA472065

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      154155304..154192135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      155524124..155560933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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