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    TPM3 tropomyosin 3 [ Homo sapiens (human) ]

    Gene ID: 7170, updated on 27-Nov-2024

    Summary

    Official Symbol
    TPM3provided by HGNC
    Official Full Name
    tropomyosin 3provided by HGNC
    Primary source
    HGNC:HGNC:12012
    See related
    Ensembl:ENSG00000143549 MIM:191030; AllianceGenome:HGNC:12012
    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; CMYO4A; CMYO4B; CMYP4A; CMYP4B; TM30nm; TPM3nu; 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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 43.6), appendix (RPKM 31.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TPM3 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154155308..154192100, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153292536..153329333, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154127784..154164576, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nucleoporin 210 like Neighboring gene ribosomal protein S7 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154070062-154070562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154070563-154071063 Neighboring gene microRNA 5698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154126882-154127382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154127383-154127883 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154128490-154128667 Neighboring gene RNA, 7SL, cytoplasmic 431, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154152669-154153665 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:154154639-154155265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1773 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154169885-154170114 Neighboring gene microRNA 190b Neighboring gene cilia and flagella associated protein 141

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital myopathy 4A, autosomal dominant
    MedGen: CN178536 OMIM: 255310 GeneReviews: Not available
    not available
    Congenital myopathy 4B, autosomal recessive
    MedGen: C5829889 OMIM: 609284 GeneReviews: Not available
    not available
    Congenital myopathy with fiber type disproportion
    MedGen: C0546264 GeneReviews: Not available
    not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3261, FLJ41118, MGC14582, MGC72094

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion HTP PubMed 
    part_of muscle thin filament tropomyosin TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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 3 nu
    tropomyosin gamma
    tropomyosin-5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5034..41826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_681

    mRNA and Protein(s)

    1. NM_001043351.2NP_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/TrEMBL
      A0A0S2Z4I4
      Related
      ENSP00000339035.7, ENST00000330188.13
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin
    2. NM_001043352.2NP_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
      ENSP00000357517.2, ENST00000368531.6
      Conserved Domains (1) summary
      pfam00261
      Location:12245
      Tropomyosin
    3. NM_001043353.2NP_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
      ENSP00000357518.4, ENST00000323144.12
      Conserved Domains (1) summary
      pfam00261
      Location:12245
      Tropomyosin
    4. NM_001278188.2NP_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
      UniProtKB/TrEMBL
      B4DQ80
      Conserved Domains (1) summary
      pfam00261
      Location:23180
      Tropomyosin
    5. NM_001278189.2NP_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
      ENSP00000357520.1, ENST00000328159.9
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin
    6. NM_001278190.2NP_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, B2RDE1
      Related
      ENSP00000480520.1, ENST00000611659.5
      Conserved Domains (1) summary
      pfam00261
      Location:12225
      Tropomyosin
    7. NM_001278191.2NP_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
      ENSP00000307712.5, ENST00000302206.9
      Conserved Domains (1) summary
      pfam00261
      Location:1156
      Tropomyosin
    8. NM_001349679.2NP_001336608.1  tropomyosin alpha-3 chain isoform Tpm3.3cy

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm3.3), lacks an exon and contains two alternate exons in its 3' coding region compared to variant Tpm3.1. The encoded isoform (Tpm3.3cy, also known as Tm5NM3) is the same length as isoform Tpm3.1cy but differs in the sequence.
      Source sequence(s)
      AA863064, AK298678, AL590431, KU178369
      UniProtKB/TrEMBL
      A0A0S2Z4G8
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin
    9. NM_001364679.2NP_001351608.1  tropomyosin alpha-3 chain isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL590431
      Conserved Domains (1) summary
      pfam00261
      Location:49283
      Tropomyosin
    10. NM_001364680.2NP_001351609.1  tropomyosin alpha-3 chain isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL590431
      Consensus CDS
      CCDS91060.1
      UniProtKB/TrEMBL
      J3KN67
      Related
      ENSP00000271850.7, ENST00000271850.11
      Conserved Domains (1) summary
      pfam00261
      Location:49283
      Tropomyosin
    11. NM_001364681.2NP_001351610.1  tropomyosin alpha-3 chain isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL590431
      Conserved Domains (1) summary
      pfam00261
      Location:49282
      Tropomyosin
    12. NM_001364682.1NP_001351611.1  tropomyosin alpha-3 chain isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL590431
      Consensus CDS
      CCDS91061.1
      UniProtKB/TrEMBL
      A0A2R2Y2Q3
      Related
      ENSP00000357516.3, ENST00000368530.7
      Conserved Domains (2) summary
      pfam00261
      Location:49283
      Tropomyosin
      pfam16526
      Location:1473
      CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
    13. NM_001364683.1NP_001351612.1  tropomyosin alpha-3 chain isoform Tpm3.5cy

      Status: REVIEWED

      Source sequence(s)
      AL590431
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin
    14. NM_152263.4NP_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 Tm sk alpha-slow, alpha s Tm1, or isoform 1) is longer and has distinct N- and C- termini, compared to isoform Tpm3.1cy. Expression of the encoded isoform is enriched in slow-twitch skeletal muscle.
      Source sequence(s)
      AJ573307, AL590431, BC008425, BC050470
      Consensus CDS
      CCDS41403.1
      UniProtKB/Swiss-Prot
      D3DV71, P06753, P12324, Q2QD06, Q5VU58, Q5VU63, Q5VU66, Q5VU71, Q5VU72, Q8TCG3, Q969Q2, Q9NQH8
      UniProtKB/TrEMBL
      A0AAQ5BH79
      Related
      ENSP00000498577.1, ENST00000651641.1
      Conserved Domains (1) summary
      pfam00261
      Location:49283
      Tropomyosin
    15. NM_153649.4NP_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/TrEMBL
      A0A0S2Z4G4, B2RDE1
      Related
      ENSP00000357521.3, ENST00000368533.8
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin

    RNA

    1. NR_103460.2 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, AL590431, BC008425, BM674651, DA900740
    2. NR_103461.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      154155308..154192100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153292536..153329333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)