MGP Database

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MGP003168

UniProt Annotations

Entry Information
Gene Nametroponin T type 3 (skeletal, fast)
Protein EntryTNNT3_HUMAN
UniProt IDP45378
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Tnt1; IsoId=P45378-1; Sequence=Displayed; Name=2; Synonyms=Tnt3; IsoId=P45378-2; Sequence=VSP_007914; Name=3; Synonyms=Tnt1f; IsoId=P45378-3; Sequence=VSP_007915; Name=4; Synonyms=Tnt3f; IsoId=P45378-4; Sequence=VSP_007914, VSP_007915, VSP_007916; Name=5; Synonyms=Tnt3f*; IsoId=P45378-5; Sequence=VSP_009121; Note=Minor isoform detected in approximately 1% of cDNA clones.; Name=6; IsoId=P45378-6; Sequence=VSP_034964; Name=7; IsoId=P45378-7; Sequence=VSP_007914, VSP_007915;
DiseaseArthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269|PubMed:12865991}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTroponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Sequence CautionSequence=AAH50446.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the troponin T family. {ECO:0000305}.
Tissue SpecificityIn fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.
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