Gene

TNNT1

Species
Homo sapiens
Symbol
TNNT1
Name
troponin T1, slow skeletal type
Synonyms
  • ANM
  • FLJ98147
Biotype
protein coding gene
Automated Description
Enables tropomyosin binding activity. Involved in negative regulation of muscle contraction and skeletal muscle contraction. Part of troponin complex. Implicated in nemaline myopathy 5A; nemaline myopathy 5B; and nemaline myopathy 5C.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11521
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            55.134M55.136M55.138M55.140M55.142M55.144M55.146M55.148M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            TNNT1 molecule type
            Interactor gene
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              Genetic Interactions

              TNNT1 role
              TNNT1 genetic perturbation
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