InnateDB Protein
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IDBP-70166.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TNNT1
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Protein Name
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troponin T type 1 (skeletal, slow)
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Synonyms
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ANM; NEM5; STNT; TNT; TNTS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000349233
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InnateDB Gene
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IDBG-70162 (TNNT1)
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Protein Structure
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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.
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Subcellular Localization |
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Disease Associations |
Nemaline myopathy 5 (NEM5) [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. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. 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:0000269PubMed:10952871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
89
[view]
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Protein-Protein |
89
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001978
Troponin
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PFAM |
PF00992
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P13805
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PhosphoSite |
PhosphoSite-P13805
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TrEMBL |
Q56R93
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UniProt Splice Variant |
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Entrez Gene |
7138
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UniGene |
Hs.707356
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RefSeq |
NP_001119605
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HUGO |
HGNC:11948
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OMIM |
191041
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CCDS |
CCDS46185
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HPRD |
01841
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IMGT |
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EMBL |
AC010327
AJ011712
AJ011713
AY762904
BC010963
BC022086
BC034143
BC107798
BT019630
M19308
M19309
S66057
S66170
S69208
S69209
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GenPept |
AAA61204
AAA61205
AAB30272
AAB30273
AAD13978
AAH10963
AAH22086
AAH34143
AAI07799
AAV38436
AAX07832
CAA09750
CAA09751
CAA09752
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