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MGP003166

Record overview

MGPD IDMGP003166
Gene ID7138
SpeciesHomo sapiens (Human)
Gene Nametroponin T type 1 (skeletal, slow)
Gene Symbol TNNT1
SynonymsANM; TNT; NEM5; STNT; TNTS;
Alternate namestroponin T, slow skeletal muscle; slow skeletal muscle troponin T; troponin-T1, skeletal, slow;
Chromosome19
Map Location19q13.4
SummaryThis 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]
OrthologsView orthologs and multiple alignments for TNNT1

Proteins

troponin T, slow skeletal muscle isoform a
Refseq ID:NP_003274
Protein GI:187173288
UniProt ID:P13805
mRNA ID:NM_003283
Length:278
RefSeq Status:
MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALK
ERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGE
EQLRARSAWLPPSQPSCPAREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK
 
troponin T, slow skeletal muscle isoform b
Refseq ID:NP_001119604
Protein GI:187173290
UniProt ID:P13805
mRNA ID:NM_001126132
Length:262
RefSeq Status:
MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALK
ERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGE
EQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK
 
troponin T, slow skeletal muscle isoform c
Refseq ID:NP_001119605
Protein GI:187173292
UniProt ID:P13805
mRNA ID:NM_001126133
Length:251
RefSeq Status:
MSDTEEQEYEEEQPEEEAAEEEEEEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERA
EQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELS
DWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK
 
troponin T, slow skeletal muscle isoform c
Refseq ID:NP_001278703
Protein GI:619534207
UniProt ID:P13805
mRNA ID:NM_001291774
Length:251
RefSeq Status:
Protein sequence is identical to GI:187173292 (mRNA isoform)
 
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