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TNNT3 troponin T3, fast skeletal type [ Homo sapiens (human) ]

Gene ID: 7140, updated on 4-Oct-2020

Summary

Official Symbol
TNNT3provided by HGNC
Official Full Name
troponin T3, fast skeletal typeprovided by HGNC
Primary source
HGNC:HGNC:11950
See related
Ensembl:ENSG00000130595 MIM:600692
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
TNTF; DA2B2; beta-TnTF
Summary
The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]
Expression
Biased expression in esophagus (RPKM 25.1), prostate (RPKM 20.2) and 6 other tissues See more
Orthologs

Genomic context

See TNNT3 in Genome Data Viewer
Location:
11p15.5
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1919551..1938704)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1940799..1959936)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene lymphocyte specific protein 1 Neighboring gene microRNA 7847 Neighboring gene long intergenic non-protein coding RNA 1150 Neighboring gene small nucleolar RNA, C/D box 131 Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene VISTA enhancer hs1488

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
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
ARTHROGRYPOSIS, DISTAL, TYPE 2B2
MedGen: C5193097 OMIM: 618435 GeneReviews: Not available
Compare labs
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp779M2348

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to actin binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to calcium-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
tropomyosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to tropomyosin binding IDA
Inferred from Direct Assay
more info
PubMed 
tropomyosin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
troponin C binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
troponin C binding IPI
Inferred from Physical Interaction
more info
PubMed 
troponin I binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
troponin I binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of striated muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
troponin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
troponin complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
troponin T, fast skeletal muscle
Names
troponin T type 3 (skeletal, fast)

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_013085.2 RefSeqGene

    Range
    5135..24134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042780.3NP_001036245.1  troponin T, fast skeletal muscle isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two internal coding exons and contains one different coding exon compared to transcript variant 1. However, it maintains the reading frame, and encodes a shorter isoform (3) with a different internal segment compared to isoform 1.
    Source sequence(s)
    BC050446, BC117327, BX640689, DA897990
    Consensus CDS
    CCDS41595.1
    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000370991.3, ENST00000381579.7
    Conserved Domains (1) summary
    pfam00992
    Location:54189
    Troponin; Troponin
  2. NM_001042781.3NP_001036246.1  troponin T, fast skeletal muscle isoform 2

    See identical proteins and their annotated locations for NP_001036246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains two different internal coding exons and lacks another coding exon compared to transcript variant 1. However, it maintains the reading frame, and encodes a slightly shorter isoform (2) with a different internal segment compared to isoform 1. Variants 2 and 7 both encode the same isoform (2).
    Source sequence(s)
    BX640689, CR541927, DA897990
    Consensus CDS
    CCDS41594.1
    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000371001.3, ENST00000381589.7
    Conserved Domains (1) summary
    pfam00992
    Location:60195
    Troponin; Troponin
  3. NM_001042782.3NP_001036247.1  troponin T, fast skeletal muscle isoform 4

    See identical proteins and their annotated locations for NP_001036247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal coding exon compared to transcript variant 1, resulting in a shorter isoform (4) missing an 8 aa segment compared to isoform 1. Variants 4, 5, and 9 all encode the same isoform (4).
    Source sequence(s)
    BC117327, BX640689, DA897990
    Consensus CDS
    CCDS41596.1
    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000370969.2, ENST00000381557.6
    Conserved Domains (1) summary
    pfam00992
    Location:54189
    Troponin; Troponin
  4. NM_001297646.2NP_001284575.1  troponin T, fast skeletal muscle isoform 4

    See identical proteins and their annotated locations for NP_001284575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an internal coding exon compared to transcript variant 1, resulting in a shorter isoform (4) missing an 8 aa segment compared to isoform 1. Variants 4, 5, and 9 all encode the same isoform (4).
    Source sequence(s)
    AC051649, AK056968, DA897990, F26088
    Consensus CDS
    CCDS41596.1
    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000370970.1, ENST00000381558.6
    Conserved Domains (1) summary
    pfam00992
    Location:54189
    Troponin; Troponin
  5. NM_001363561.2NP_001350490.1  troponin T, fast skeletal muscle isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 12, encodes isoform 5.
    Source sequence(s)
    AC051649
    Consensus CDS
    CCDS86164.1
    Related
    ENSP00000370975.4, ENST00000381563.8
    Conserved Domains (1) summary
    pfam00992
    Location:65200
    Troponin; Troponin
  6. NM_001367842.1NP_001354771.1  troponin T, fast skeletal muscle isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 2, encodes isoform 2.
    Source sequence(s)
    AC051649, BC171727
    Related
    ENSP00000492914.1, ENST00000641119.1
  7. NM_001367843.1NP_001354772.1  troponin T, fast skeletal muscle isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC051649
  8. NM_001367844.1NP_001354773.1  troponin T, fast skeletal muscle isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 4 and 5, encodes isoform 4.
    Source sequence(s)
    AC051649, BC117327
    Related
    ENSP00000493331.1, ENST00000641787.1
  9. NM_001367845.1NP_001354774.1  troponin T, fast skeletal muscle isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC051649
  10. NM_001367846.1NP_001354775.1  troponin T, fast skeletal muscle isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) encodes the longest isoform (8).
    Source sequence(s)
    AC051649
  11. NM_001367847.1NP_001354776.1  troponin T, fast skeletal muscle isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 6, encodes isoform 5.
    Source sequence(s)
    AC051649
  12. NM_001367848.1NP_001354777.1  troponin T, fast skeletal muscle isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC051649
  13. NM_001367849.1NP_001354778.1  troponin T, fast skeletal muscle isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC051649
  14. NM_001367850.1NP_001354779.1  troponin T, fast skeletal muscle isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC051649
    Related
    ENSP00000415614.1, ENST00000453458.5
  15. NM_001367851.1NP_001354780.1  troponin T, fast skeletal muscle isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variant 17, encodes isoform 12.
    Source sequence(s)
    AC051649
  16. NM_001367852.1NP_001354781.1  troponin T, fast skeletal muscle isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variant 16, encodes isoform 12.
    Source sequence(s)
    AC051649, BC171728
    Related
    ENSP00000493372.1, ENST00000641225.1
  17. NM_006757.4NP_006748.1  troponin T, fast skeletal muscle isoform 1

    See identical proteins and their annotated locations for NP_006748.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC117327, BX640689, DA897990, M21984
    Consensus CDS
    CCDS7727.1
    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000278317.6, ENST00000278317.11
    Conserved Domains (1) summary
    pfam00992
    Location:62197
    Troponin; Troponin

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    1919551..1938704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018206.1XP_016873695.1  troponin T, fast skeletal muscle isoform X4

    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000380468.1, ENST00000397301.5
    Conserved Domains (1) summary
    pfam00992
    Location:73208
    Troponin; Troponin
  2. XM_024448669.1XP_024304437.1  troponin T, fast skeletal muscle isoform X8

    Conserved Domains (1) summary
    pfam00992
    Location:60195
    Troponin; Troponin
  3. XM_017018207.1XP_016873696.1  troponin T, fast skeletal muscle isoform X5

    Conserved Domains (1) summary
    pfam00992
    Location:69204
    Troponin; Troponin
  4. XM_017018209.1XP_016873698.1  troponin T, fast skeletal muscle isoform X7

    Conserved Domains (1) summary
    pfam00992
    Location:61196
    Troponin; Troponin
  5. XM_017018211.1XP_016873700.1  troponin T, fast skeletal muscle isoform X10

    Conserved Domains (1) summary
    pfam00992
    Location:56191
    Troponin; Troponin
  6. XM_006718294.3XP_006718357.1  troponin T, fast skeletal muscle isoform X2

    Conserved Domains (1) summary
    pfam00992
    Location:65200
    Troponin; Troponin
  7. XM_017018205.1XP_016873694.1  troponin T, fast skeletal muscle isoform X3

  8. XM_006718300.3XP_006718363.1  troponin T, fast skeletal muscle isoform X23

    See identical proteins and their annotated locations for XP_006718363.1

    UniProtKB/Swiss-Prot
    P45378
    Related
    ENSP00000344870.4, ENST00000344578.8
    Conserved Domains (1) summary
    pfam00992
    Location:49184
    Troponin; Troponin
  9. XM_017018216.1XP_016873705.1  troponin T, fast skeletal muscle isoform X19

  10. XM_017018217.1XP_016873706.1  troponin T, fast skeletal muscle isoform X20

  11. XM_017018218.1XP_016873707.1  troponin T, fast skeletal muscle isoform X21

  12. XM_017018219.1XP_016873708.1  troponin T, fast skeletal muscle isoform X25

    UniProtKB/TrEMBL
    H9KVA2
    Related
    ENSP00000380471.2, ENST00000397304.6
  13. XM_006718299.2XP_006718362.1  troponin T, fast skeletal muscle isoform X22

    Conserved Domains (1) summary
    pfam00992
    Location:53188
    Troponin; Troponin
  14. XM_011520343.2XP_011518645.1  troponin T, fast skeletal muscle isoform X4

    See identical proteins and their annotated locations for XP_011518645.1

    UniProtKB/Swiss-Prot
    P45378
    Conserved Domains (1) summary
    pfam00992
    Location:73208
    Troponin; Troponin
  15. XM_017018208.1XP_016873697.1  troponin T, fast skeletal muscle isoform X6

    Conserved Domains (1) summary
    pfam00992
    Location:66201
    Troponin; Troponin
  16. XM_017018214.1XP_016873703.1  troponin T, fast skeletal muscle isoform X15

    Related
    ENSP00000413203.1, ENST00000446240.1
    Conserved Domains (1) summary
    pfam00992
    Location:49184
    Troponin; Troponin
  17. XM_017018210.1XP_016873699.1  troponin T, fast skeletal muscle isoform X9

    Conserved Domains (1) summary
    pfam00992
    Location:58193
    Troponin; Troponin
  18. XM_024448671.1XP_024304439.1  troponin T, fast skeletal muscle isoform X13

    Conserved Domains (1) summary
    pfam00992
    Location:53188
    Troponin; Troponin
  19. XM_024448670.1XP_024304438.1  troponin T, fast skeletal muscle isoform X12

    Conserved Domains (1) summary
    pfam00992
    Location:54189
    Troponin
  20. XM_017018212.1XP_016873701.1  troponin T, fast skeletal muscle isoform X11

  21. XM_017018213.1XP_016873702.1  troponin T, fast skeletal muscle isoform X14

  22. XM_017018215.1XP_016873704.1  troponin T, fast skeletal muscle isoform X16

    Conserved Domains (1) summary
    pfam00992
    Location:47182
    Troponin; Troponin
  23. XM_024448672.1XP_024304440.1  troponin T, fast skeletal muscle isoform X17

    Conserved Domains (1) summary
    pfam00992
    Location:47182
    Troponin; Troponin
  24. XM_006718288.3XP_006718351.1  troponin T, fast skeletal muscle isoform X18

    Conserved Domains (1) summary
    pfam00992
    Location:78213
    Troponin; Troponin

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p13 PATCHES

    Range
    88527..107530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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