Format

Send to:

Choose Destination

TPM3 tropomyosin 3 [ Homo sapiens (human) ]

Gene ID: 7170, updated on 4-Oct-2020

Summary

Official Symbol
TPM3provided by HGNC
Official Full Name
tropomyosin 3provided by HGNC
Primary source
HGNC:HGNC:12012
See related
Ensembl:ENSG00000143549 MIM:191030
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; 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

Genomic context

See TPM3 in Genome Data Viewer
Location:
1q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154155308..154192100, 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

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?

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

Homology

Clone Names

  • MGC3261, FLJ41118, MGC14582, MGC72094

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
 
muscle filament sliding TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
muscle thin filament tropomyosin TAS
Traceable Author Statement
more info
PubMed 
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)

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)

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/Swiss-Prot
    P06753
    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:22180
    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
    Related
    ENSP00000480520.1, ENST00000611659.4
    Conserved Domains (1) summary
    pfam00261
    Location:12225
    Tropomyosin; 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
    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
    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
    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 14

    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
    P06753
    Related
    ENSP00000498577.1, ENST00000651641.1
    Conserved Domains (2) summary
    pfam00261
    Location:49283
    Tropomyosin
    pfam16526
    Location:1473
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  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/Swiss-Prot
    P06753
    UniProtKB/TrEMBL
    A0A0S2Z4G4
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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