TPM3 tropomyosin 3 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of TPM3 in Protecting Cardiomyocyte from Hypoxia-Induced Injury via Cytoskeleton Stabilization.
Title: The Role of TPM3 in Protecting Cardiomyocyte from Hypoxia-Induced Injury via Cytoskeleton Stabilization.
RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles.
Title: RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles.
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Title: Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin gammabeta-heterodimer.
Title: Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer.
Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
Title: Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Title: A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
[Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats].
Title: [Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats].
PolyC-RNA-binding protein 1 (PCBP1) enhances tropomyosin 3 (TPM3) mRNA stability to promote the progression of esophageal squamous cell carcinoma.
Title: PolyC-RNA-binding protein 1 (PCBP1) enhances tropomyosin 3 (TPM3) mRNA stability to promote the progression of esophageal squamous cell carcinoma.
Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.
Title: Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.
Targeting the actin/tropomyosin cytoskeleton in epithelial ovarian cancer reveals multiple mechanisms of synergy with anti-microtubule agents.
Title: Targeting the actin/tropomyosin cytoskeleton in epithelial ovarian cancer reveals multiple mechanisms of synergy with anti-microtubule agents.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64675 (e-PCR)
- UniSTS:38418

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH70810 (e-PCR)
- UniSTS:6462

G15887 (e-PCR)
- UniSTS:19782

TPM3_1292 (e-PCR)
- UniSTS:277841

TPM3_v390 (e-PCR)
- UniSTS:277841

RH47717 (e-PCR)
- UniSTS:16726

AB049870 (e-PCR)
- UniSTS:480103

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

REN100037 (e-PCR)
- UniSTS:424834

D15S1278 (e-PCR)
- UniSTS:25742

D11S3114 (e-PCR)
- UniSTS:152207

stSG598307 (e-PCR)
- UniSTS:443024

RH41905 (e-PCR)
- UniSTS:29074

GDB:545460 (e-PCR)
- UniSTS:157588

GDB:545462 (e-PCR)
- UniSTS:157589

L17877 (e-PCR)
- UniSTS:61334

REN65247 (e-PCR)
- UniSTS:390047

REN65249 (e-PCR)
- UniSTS:390049

RH41815 (e-PCR)
- UniSTS:85929

L17809 (e-PCR)
- UniSTS:39087

U04541 (e-PCR)
- UniSTS:125645

SHGC-148353 (e-PCR)
- UniSTS:176345

GDB:631802 (e-PCR)
- UniSTS:158429

RH80031 (e-PCR)
- UniSTS:91103

L17791 (e-PCR)
- UniSTS:42740

ECD21592 (e-PCR)
- UniSTS:302587

D11S3590 (e-PCR)
- UniSTS:152828

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available 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 more info	PubMed
located_in mitochondrion	HTP more info	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

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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)

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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

NG_008621.1 RefSeqGene

Range

5034..41826

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_681

mRNA and Protein(s)

NM_001043351.2 → NP_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:12 → 246

Tropomyosin
NM_001043352.2 → NP_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:12 → 245

Tropomyosin
NM_001043353.2 → NP_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:12 → 245

Tropomyosin
NM_001278188.2 → NP_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:23 → 180

Tropomyosin
NM_001278189.2 → NP_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:12 → 246

Tropomyosin
NM_001278190.2 → NP_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:12 → 225

Tropomyosin
NM_001278191.2 → NP_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:1 → 156

Tropomyosin
NM_001349679.2 → NP_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:12 → 246

Tropomyosin
NM_001364679.2 → NP_001351608.1 tropomyosin alpha-3 chain isoform 10

Status: REVIEWED

Source sequence(s)

AL590431

Conserved Domains (1) summary

pfam00261
Location:49 → 283

Tropomyosin
NM_001364680.2 → NP_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:49 → 283

Tropomyosin
NM_001364681.2 → NP_001351610.1 tropomyosin alpha-3 chain isoform 12

Status: REVIEWED

Source sequence(s)

AL590431

Conserved Domains (1) summary

pfam00261
Location:49 → 282

Tropomyosin
NM_001364682.1 → NP_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:49 → 283

Tropomyosin

pfam16526
Location:14 → 73

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
NM_001364683.1 → NP_001351612.1 tropomyosin alpha-3 chain isoform Tpm3.5cy

Status: REVIEWED

Source sequence(s)

AL590431

Conserved Domains (1) summary

pfam00261
Location:12 → 246

Tropomyosin
NM_152263.4 → NP_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:49 → 283

Tropomyosin
NM_153649.4 → NP_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:12 → 246

Tropomyosin

RNA

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
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