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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]
TNNT1 (Troponin T1, Slow Skeletal Type) is a Protein Coding gene. Diseases associated with TNNT1 include Nemaline Myopathy 5 and Nemaline Myopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include tropomyosin binding and troponin T binding. An important paralog of this gene is TNNT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21516116 |
GO:0005523 | tropomyosin binding | IMP | 15665378 |
GO:0030899 | contributes_to calcium-dependent ATPase activity | IBA | 21873635 |
GO:0031014 | troponin T binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005861 | troponin complex | IMP,IEA | 15665378 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Striated Muscle Contraction | ||
2 | Cardiac conduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003009 | skeletal muscle contraction | IMP | 10952871 |
GO:0006936 | muscle contraction | IBA | 21873635 |
GO:0006937 | regulation of muscle contraction | IEA | -- |
GO:0014883 | transition between fast and slow fiber | IEA | -- |
GO:0030049 | muscle filament sliding | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Approved | Nutra | 7773 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TNNT1 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TNNT1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TNNT1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Tnnt1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Tnnt1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | TNNT1 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | TNNT1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | tnnt1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | tnnt1 33 |
|
OneToOne | |
zgc:193865 32 |
|
||||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.963 33 |
|
ManyToMany | |
CSA.10162 33 |
|
ManyToMany |
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112562759 | not-provided, benign, likely-benign, not provided, not specified, Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive | 55,147,019(-) | T/C | coding_sequence_variant, missense_variant | |
rs1156410888 | likely-pathogenic, Nemaline myopathy 5 | 55,137,214(-) | T/C | splice_acceptor_variant | |
rs11669534 | not-provided, benign, likely-benign, not provided, not specified, Nemaline Myopathy, Recessive | 55,146,720(-) | G/A/T | intron_variant | |
rs138664823 | uncertain-significance, likely-benign, Nemaline Myopathy, Recessive, not specified | 55,134,051(-) | G/A | intron_variant | |
rs141774400 | uncertain-significance, Nemaline Myopathy, Recessive, Nemaline myopathy 5, not provided | 55,137,134(-) | C/T | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1688462 | CNV | deletion | 17803354 |
esv2308409 | CNV | deletion | 18987734 |
esv2541049 | CNV | insertion | 19546169 |
esv2675833 | CNV | deletion | 23128226 |
esv2718954 | CNV | deletion | 23290073 |
esv2718955 | CNV | deletion | 23290073 |
esv2758772 | CNV | gain | 17122850 |
esv34356 | CNV | gain | 17911159 |
esv3644829 | CNV | gain | 21293372 |
nsv1055961 | CNV | gain+loss | 25217958 |
nsv1060034 | CNV | gain | 25217958 |
nsv1071949 | CNV | deletion | 25765185 |
nsv1140494 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nemaline myopathy 5 |
|
|
nemaline myopathy |
|
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myopathy |
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geniculate ganglionitis |
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type 1 diabetes mellitus 3 |
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