Human Gene TPM3 (ENST00000651641.1_7) from GENCODE V47lift37
  Description: tropomyosin 3, transcript variant Tpm3.12 (from RefSeq NM_152263.4)
Gencode Transcript: ENST00000651641.1_7
Gencode Gene: ENSG00000143549.22_17
Transcript (Including UTRs)
   Position: hg19 chr1:154,134,289-154,164,576 Size: 30,288 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr1:154,140,413-154,164,494 Size: 24,082 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,134,289-154,164,576)mRNA (may differ from genome)Protein (285 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TPM3_HUMAN
DESCRIPTION: RecName: Full=Tropomyosin alpha-3 chain; AltName: Full=Gamma-tropomyosin; AltName: Full=Tropomyosin-3; AltName: Full=Tropomyosin-5; Short=hTM5;
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.
SUBUNIT: Heterodimer of an alpha and a beta chain. Binds to TMOD1.
INTERACTION: Q14240:EIF4A2; NbExp=1; IntAct=EBI-355607, EBI-73473; P23508:MCC; NbExp=1; IntAct=EBI-355607, EBI-307531;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
DOMAIN: The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven- residues periodicity.
DISEASE: Defects in TPM3 are the cause of nemaline myopathy type 1 (NEM1) [MIM:609284]. A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. Autosomal dominant nemaline myopathy type 1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate-to-severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years.
DISEASE: Defects in TPM3 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving TPM3 is found in thyroid papillary carcinomas. A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3'-end of NTRK1.
SIMILARITY: Belongs to the tropomyosin family.
SEQUENCE CAUTION: Sequence=AAH08407.1; Type=Erroneous initiation; Sequence=AAH08425.1; Type=Erroneous initiation; Sequence=CAA27798.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TPM3ID225.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPM3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TPM3
Diseases sorted by gene-association score: myopathy, congenital, with fiber-type disproportion* (1231), nemaline myopathy 1, autosomal dominant or recessive* (1200), congenital fiber-type disproportion* (877), tpm3-related nemaline myopathy* (500), cap myopathy* (389), intermediate congenital nemaline myopathy* (350), congenital generalized hypercontractile muscle stiffness syndrome* (350), childhood-onset nemaline myopathy* (247), inflammatory myofibroblastic tumor* (179), nemaline myopathy* (172), tpm3-related congenital fiber-type disproportion* (100), childhood kidney cell carcinoma (15), muscle disorders (13), chronic eosinophilic leukemia (10), congenital structural myopathy (9), myopathy (9), pediatric fibrosarcoma (7), mesenchymal cell neoplasm (7), lymphatic system cancer (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.8082-0.156 Picture PostScript Text
3' UTR -2494.106124-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000533 - Tropomyosin

Pfam Domains:
PF00261 - Tropomyosin
PF12718 - Tropomyosin like
PF16526 - C-terminal leucine zipper domain of cyclic nucleotide-gated channels

SCOP Domains:
48452 - TPR-like
103657 - BAR/IMD domain-like
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on P06753
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0051015 actin filament binding

Biological Process:
GO:0006936 muscle contraction
GO:0007015 actin filament organization
GO:0030049 muscle filament sliding

Cellular Component:
GO:0001725 stress fiber
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005862 muscle thin filament tropomyosin
GO:0005884 actin filament
GO:0015629 actin cytoskeleton
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK056889 - Homo sapiens cDNA FLJ32327 fis, clone PROST2004416, moderately similar to TROPOMYOSIN 5, CYTOSKELETAL TYPE.
AB062125 - Homo sapiens OK/SW-cl.5 mRNA for cytoskeletal tropomyosin TM30, complete cds.
AK125367 - Homo sapiens cDNA FLJ43377 fis, clone OCBBF2001961, moderately similar to TROPOMYOSIN 5, CYTOSKELETAL TYPE.
X04588 - Human 2.5 kb mRNA for cytoskeletal tropomyosin TM30(nm).
AK092712 - Homo sapiens cDNA FLJ35393 fis, clone SKNSH2000971, highly similar to TROPOMYOSIN, CYTOSKELETAL TYPE.
AX747685 - Sequence 1210 from Patent EP1308459.
BC000771 - Homo sapiens tropomyosin 3, mRNA (cDNA clone MGC:3261 IMAGE:3506357), complete cds.
BC072428 - Homo sapiens tropomyosin 3, mRNA (cDNA clone MGC:87759 IMAGE:6472532), complete cds.
AK026559 - Homo sapiens cDNA: FLJ22906 fis, clone KAT05659, highly similar to HSTROPCR Human 2.5 kb mRNA for cytoskeletal tropomyosin TM30(nm).
AK123571 - Homo sapiens cDNA FLJ41577 fis, clone CTONG2019579.
AK056921 - Homo sapiens cDNA FLJ32359 fis, clone PROST2008516, highly similar to TROPOMYOSIN, CYTOSKELETAL TYPE.
BX648485 - Homo sapiens mRNA; cDNA DKFZp686J1372 (from clone DKFZp686J1372).
FJ224335 - Homo sapiens epididymis luminal protein 189 (HEL-189) mRNA, complete cds.
GQ891304 - Homo sapiens clone HEL-S-27a epididymis secretory sperm binding protein mRNA, complete cds.
BC015403 - Homo sapiens tropomyosin 3, mRNA (cDNA clone MGC:21936 IMAGE:4389911), complete cds.
BC017195 - Homo sapiens cDNA clone IMAGE:3138799, containing frame-shift errors.
AK298678 - Homo sapiens cDNA FLJ50612 complete cds, highly similar to Rattus norvegicus tropomyosin 3, gamma (Tpm3), transcript variant 2, mRNA.
AK308007 - Homo sapiens cDNA, FLJ97955.
AK301674 - Homo sapiens cDNA FLJ50720 complete cds, highly similar to Homo sapiens tropomyosin 3 (TPM3), transcript variant 2, mRNA.
AK315504 - Homo sapiens cDNA, FLJ96568, highly similar to Homo sapiens tropomyosin 3 (TPM3), mRNA.
KJ905944 - Synthetic construct Homo sapiens clone ccsbBroadEn_15614 TPM3 gene, encodes complete protein.
KU178368 - Homo sapiens tropomyosin 3 isoform 1 (TPM3) mRNA, partial cds.
KU178369 - Homo sapiens tropomyosin 3 isoform 2 (TPM3) mRNA, complete cds, alternatively spliced.
KU178370 - Homo sapiens tropomyosin 3 isoform 3 (TPM3) mRNA, partial cds.
AB529194 - Synthetic construct DNA, clone: pF1KB5272, Homo sapiens TPM3 gene for tropomyosin 3, without stop codon, in Flexi system.
AY004867 - Homo sapiens tropomyosin isoform mRNA, complete cds.
AK056997 - Homo sapiens cDNA FLJ32435 fis, clone SKMUS2001287, highly similar to Tropomyosin alpha-3 chain.
AK092690 - Homo sapiens cDNA FLJ35371 fis, clone SKMUS2001740, highly similar to TROPOMYOSIN ALPHA CHAIN, SKELETAL MUSCLE TYPE.
AX747672 - Sequence 1197 from Patent EP1308459.
EU668324 - Homo sapiens epididymis secretory sperm binding protein Li 82p (HEL-S-82p) mRNA, complete cds.
X04201 - Human skeletal muscle 1.3 kb mRNA for tropomyosin.
BC008407 - Homo sapiens tropomyosin 3, mRNA (cDNA clone MGC:14532 IMAGE:4245271), complete cds.
BC008425 - Homo sapiens tropomyosin 3, mRNA (cDNA clone MGC:14582 IMAGE:4246114), complete cds.
BC062740 - Homo sapiens tropomyosin 3, mRNA (cDNA clone MGC:72094 IMAGE:4271142), complete cds.
BC050470 - Homo sapiens, clone IMAGE:6200207, mRNA.
JD019965 - Sequence 989 from Patent EP1572962.
JD032940 - Sequence 13964 from Patent EP1572962.
JD070382 - Sequence 51406 from Patent EP1572962.
JD070383 - Sequence 51407 from Patent EP1572962.
JD514161 - Sequence 495185 from Patent EP1572962.
JD514162 - Sequence 495186 from Patent EP1572962.
JD151014 - Sequence 132038 from Patent EP1572962.
JD107953 - Sequence 88977 from Patent EP1572962.
JD515271 - Sequence 496295 from Patent EP1572962.
JD431721 - Sequence 412745 from Patent EP1572962.
JD165861 - Sequence 146885 from Patent EP1572962.
JD441768 - Sequence 422792 from Patent EP1572962.
JD329856 - Sequence 310880 from Patent EP1572962.
JD111221 - Sequence 92245 from Patent EP1572962.
JD120502 - Sequence 101526 from Patent EP1572962.
JD131319 - Sequence 112343 from Patent EP1572962.
JD071472 - Sequence 52496 from Patent EP1572962.
JD094474 - Sequence 75498 from Patent EP1572962.
KY806113 - Homo sapiens tropomyosin 3 nu (TPM3nu) mRNA, complete cds.
KJ901804 - Synthetic construct Homo sapiens clone ccsbBroadEn_11198 TPM3 gene, encodes complete protein.
AF474157 - Homo sapiens TPMsk3 (TPM3) mRNA, partial cds.
KJ892309 - Synthetic construct Homo sapiens clone ccsbBroadEn_01703 TPM3 gene, encodes complete protein.
KR710204 - Synthetic construct Homo sapiens clone CCSBHm_00010339 TPM3 (TPM3) mRNA, encodes complete protein.
KR710205 - Synthetic construct Homo sapiens clone CCSBHm_00010341 TPM3 (TPM3) mRNA, encodes complete protein.
KR710206 - Synthetic construct Homo sapiens clone CCSBHm_00010342 TPM3 (TPM3) mRNA, encodes complete protein.
KR710207 - Synthetic construct Homo sapiens clone CCSBHm_00010346 TPM3 (TPM3) mRNA, encodes complete protein.
M12128 - Human cytoskeletal tropomyosin isoform (2.5 kb) mRNA, 3' end.
JD207136 - Sequence 188160 from Patent EP1572962.
JD332957 - Sequence 313981 from Patent EP1572962.
JD375366 - Sequence 356390 from Patent EP1572962.
JD335978 - Sequence 317002 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P06753 (Reactome details) participates in the following event(s):

R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390598 Myosin Binds ATP
R-HSA-390595 Calcium Binds Troponin-C
R-HSA-445355 Smooth Muscle Contraction
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: D3DV71, NM_152263, P06753, P12324, Q2QD06, Q5VU58, Q5VU63, Q5VU66, Q5VU71, Q5VU72, Q8TCG3, Q969Q2, Q9NQH8, TPM3_HUMAN, uc328tfq.1, uc328tfq.2
UCSC ID: ENST00000651641.1_7
RefSeq Accession: NM_152263.4
Protein: P06753 (aka TPM3_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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