TNNT1
entrez
7138
canonical
uniprot
P13805
canonical
ensembl
ENSG00000105048
resolver
ensp
ENSP00000291901
resolver
ensp
ENSP00000349233
resolver
ensp
ENSP00000467176
resolver
ensp
ENSP00000467789
resolver
ensp
ENSP00000634423
resolver
genesymbol
TNNT1
resolver
genesymbol_syn
TNT
resolver
hgnc
HGNC:11948
resolver
uniprot
O95472
resolver
uniprot
Q16061
resolver
uniprot
Q5U0E1
resolver
uniprot_entry
TNNT1_HUMAN
resolver
uniprot_sec
O95472
resolver
uniprot_sec
Q16061
resolver
uniprot_sec
Q5U0E1
resolver
amino_acid_sequence
MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCPAREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK
uniprot
proteins
disease_involvement
DISEASE: Nemaline myopathy 5A, autosomal recessive, severe infantile (NEM5A) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5A is a severe and progressive form characterized by symptom onset soon after birth or in early infancy. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. {ECO:0000269|PubMed:10952871, ECO:0000269|PubMed:32994279}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nemaline myopathy 5B, autosomal recessive, childhood-onset (NEM5B) [MIM:620386]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5B is characterized by proximal muscle weakness of the lower and upper limbs, gait abnormalities, and delayed motor development in some affected individuals. Most patients remain ambulatory even into late adulthood and develop restrictive respiratory insufficiency with decreased forced vital capacity. {ECO:0000269|PubMed:31970803, ECO:0000269|PubMed:35165004, ECO:0000269|PubMed:35510366}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nemaline myopathy 5C, autosomal dominant (NEM5C) [MIM:620389]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5C is a relatively mild skeletal muscle disorder appearing in the first or second decades. Main clinical features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Patients remain ambulatory into late adulthood. {ECO:0000269|PubMed:29178646, ECO:0000269|PubMed:35510366}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
uniprot
proteins
mass_dalton
32948
uniprot
proteins
protein_family
Troponin T family
uniprot
proteins
pubmed
10191089
uniprot
proteins
pubmed
10952871
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2824479
uniprot
proteins
pubmed
29178646
uniprot
proteins
pubmed
31970803
uniprot
proteins
pubmed
32994279
uniprot
proteins
pubmed
35165004
uniprot
proteins
pubmed
35510366
uniprot
proteins
pubmed
8135831
uniprot
proteins
pubmed
8403232
uniprot
proteins
sequence_length
278
uniprot
proteins