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TNNT1 troponin T1, slow skeletal type [ Homo sapiens (human) ]

Gene ID: 7138, updated on 5-Aug-2018

Summary

Official Symbol
TNNT1provided by HGNC
Official Full Name
troponin T1, slow skeletal typeprovided by HGNC
Primary source
HGNC:HGNC:11948
See related
Ensembl:ENSG00000105048 MIM:191041; Vega:OTTHUMG00000180542
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
ANM; TNT; NEM5; STNT; TNTS
Summary
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 142.1), prostate (RPKM 132.0) and 2 other tissues See more
Orthologs

Genomic context

See TNNT1 in Genome Data Viewer
Location:
19q13.42
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (55132698..55149354, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55644161..55660752, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 12C Neighboring gene microRNA 7975 Neighboring gene troponin I3, cardiac type Neighboring gene uncharacterized LOC101930593 Neighboring gene dynein axonemal assembly factor 3

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ98147, MGC104241

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CONTRIBUTES_TO calcium-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CONTRIBUTES_TO protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
CONTRIBUTES_TO tropomyosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tropomyosin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
troponin T binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
troponin T binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
negative regulation of 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
slow-twitch skeletal muscle fiber contraction IEA
Inferred from Electronic Annotation
more info
 
transition between fast and slow fiber IEA
Inferred from Electronic Annotation
more info
 
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 
troponin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
troponin T, slow skeletal muscle
Names
slow skeletal muscle troponin T
troponin T type 1 (skeletal, slow)
troponin-T1, skeletal, slow

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_011829.2 RefSeqGene

    Range
    5001..21446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001126132.2NP_001119604.1  troponin T, slow skeletal muscle isoform b

    See identical proteins and their annotated locations for NP_001119604.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    BC010963, DC385627, F20363
    Consensus CDS
    CCDS59421.1
    UniProtKB/Swiss-Prot
    P13805
    Related
    ENSP00000291901.8, OTTHUMP00000264584, ENST00000291901.12, OTTHUMT00000451826
    Conserved Domains (1) summary
    pfam00992
    Location:69205
    Troponin; Troponin
  2. NM_001126133.2NP_001119605.1  troponin T, slow skeletal muscle isoform c

    See identical proteins and their annotated locations for NP_001119605.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 3 and 4 encode isoform c.
    Source sequence(s)
    BC010963, DC385627, F20363, M19308
    Consensus CDS
    CCDS46185.1
    UniProtKB/Swiss-Prot
    P13805
    Related
    ENSP00000349233.4, OTTHUMP00000264581, ENST00000356783.9, OTTHUMT00000451823
    Conserved Domains (1) summary
    pfam00992
    Location:58194
    Troponin; Troponin
  3. NM_001291774.1NP_001278703.1  troponin T, slow skeletal muscle isoform c

    See identical proteins and their annotated locations for NP_001278703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 3 and 4 encode isoform c.
    Source sequence(s)
    BC010963, BC022086, DC385627, F20363
    Consensus CDS
    CCDS46185.1
    UniProtKB/Swiss-Prot
    P13805
    Related
    ENSP00000467789.1, OTTHUMP00000264582, ENST00000587758.5, OTTHUMT00000451824
    Conserved Domains (1) summary
    pfam00992
    Location:58194
    Troponin; Troponin
  4. NM_003283.5NP_003274.3  troponin T, slow skeletal muscle isoform a

    See identical proteins and their annotated locations for NP_003274.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    BC010963, DC385627, F20363, M19309
    Consensus CDS
    CCDS12917.1
    UniProtKB/Swiss-Prot
    P13805
    Related
    ENSP00000467176.1, OTTHUMP00000264583, ENST00000588981.5, OTTHUMT00000451825
    Conserved Domains (1) summary
    pfam00992
    Location:69204
    Troponin; Troponin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    55132698..55149354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027186.1XP_016882675.1  troponin T, slow skeletal muscle isoform X1

    UniProtKB/Swiss-Prot
    P13805
    Conserved Domains (1) summary
    pfam00992
    Location:69205
    Troponin; Troponin
  2. XM_017027187.1XP_016882676.1  troponin T, slow skeletal muscle isoform X2

    Conserved Domains (1) summary
    pfam00992
    Location:65201
    Troponin; Troponin
  3. XM_011527246.3XP_011525548.1  troponin T, slow skeletal muscle isoform X2

    Related
    ENSP00000467881.2, OTTHUMP00000264646, ENST00000593194.5
    Conserved Domains (1) summary
    pfam00992
    Location:65201
    Troponin; Troponin
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