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

Gene ID: 7138, updated on 8-Jul-2021

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
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
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Genomic context

See TNNT1 in Genome Data Viewer
Location:
19q13.42
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55132698..55149332, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55644066..55660574, 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 DNAAF3 antisense RNA 1 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tropomyosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables tropomyosin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables troponin T binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in slow-twitch skeletal muscle fiber contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transition between fast and slow fiber IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of troponin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of troponin complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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)

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_011829.2 RefSeqGene

    Range
    5033..21541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_679

mRNA and Protein(s)

  1. NM_001126132.3NP_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, ENST00000291901.12
    Conserved Domains (1) summary
    pfam00992
    Location:69205
    Troponin; Troponin
  2. NM_001126133.3NP_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, ENST00000356783.9
    Conserved Domains (1) summary
    pfam00992
    Location:58194
    Troponin; Troponin
  3. NM_001291774.2NP_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, ENST00000587758.5
    Conserved Domains (1) summary
    pfam00992
    Location:58194
    Troponin; Troponin
  4. NM_003283.6NP_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, ENST00000588981.6
    Conserved Domains (1) summary
    pfam00992
    Location:69204
    Troponin; Troponin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    55132698..55149332 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, ENST00000593194.5
    Conserved Domains (1) summary
    pfam00992
    Location:65201
    Troponin; Troponin
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