###Gene summary #Tax_id Org_name GeneID status Symbol Functional_stage Aliases Description Other_designations Map_location Chromosome Genomic_nucleotide_accession Start_pos_on_genomic_acc End_pos_on_genomic_acc Orientation Exon_count OMIM 9606 Homo sapiens 7138 live TNNT1 Cytoskeletal organization ANM, NEM5, STNT, TNT, TNTS Troponin T1, slow skeletal type,troponin T, slow skeletal muscle|slow skeletal muscle troponin T|troponin T type 1 (skeletal, slow)|troponin-T1, skeletal, slow 19q13.42 19 NC_000019.10 55132698 55149354 minus 15 191041 ###Disease involvement #GeneID Symbol Category Disease PubMedID Other reference 7138 TNNT1 Muscular dystrophy Nemaline myopathy 25430424 - Nemaline myopathy: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. ###RefSeq information #SNo. GeneID Symbol Status RNA_nuc_accver CDPpos Prot_accver Genomic_nuc_accver Start_pos_on_genomic_acc End_pos_on_genomic_acc Orientation Assembly Mature_peptide_accver UniProtKBID PDBID 1 7138 TNNT1 MODEL XM_011527246.2 95..871 XP_011525548.1 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 2 7138 TNNT1 MODEL XM_017027186.1 279..1067 XP_016882675.1 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 3 7138 TNNT1 MODEL XM_017027187.1 279..1055 XP_016882676.1 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 4 7138 TNNT1 REVIEWED - - NG_011829.2 5000 21445 + - - P13805 - 5 7138 TNNT1 REVIEWED NM_001126132.2 206..994 NP_001119604.1 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 6 7138 TNNT1 REVIEWED NM_001126132.2 206..994 NP_001119604.1 NC_018930.2 55637671 55654282 - Alternate CHM1_ - P13805 - 7 7138 TNNT1 REVIEWED NM_001126133.2 206..961 NP_001119605.1 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 8 7138 TNNT1 REVIEWED NM_001126133.2 206..961 NP_001119605.1 NC_018930.2 55637671 55654282 - Alternate CHM1_ - P13805 - 9 7138 TNNT1 REVIEWED NM_001291774.1 301..1056 NP_001278703.1 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 10 7138 TNNT1 REVIEWED NM_001291774.1 301..1056 NP_001278703.1 NC_018930.2 55637671 55654282 - Alternate CHM1_ - P13805 - 11 7138 TNNT1 REVIEWED NM_003283.5 206..1042 NP_003274.3 NC_000019.10 55132697 55149353 - Reference GRCh3 - P13805 - 12 7138 TNNT1 REVIEWED NM_003283.5 206..1042 NP_003274.3 NC_018930.2 55637671 55654282 - Alternate CHM1_ - P13805 - 13 7138 TNNT1 REVIEWED NM_003283.5 206..1042 NP_003274.3 NG_011829.2 5000 21445 + - - P13805 - ###Gene Ontology #SNo. TaxonID GeneID GOID Evidence Qualifier GOterm PubMedID Category 1 9606 7138 GO:0003009 IMP - skeletal muscle contraction 10952871 Process 2 9606 7138 GO:0005515 IPI - protein binding 21516116 Function 3 9606 7138 GO:0005523 IMP - tropomyosin binding 15665378 Function 4 9606 7138 GO:0005829 TAS - cytosol 0 Component 5 9606 7138 GO:0005861 IDA - troponin complex 18032382 Component 6 9606 7138 GO:0005861 IMP - troponin complex 15665378 Component 7 9606 7138 GO:0014883 IEA - transition between fast and slow fiber 0 Process 8 9606 7138 GO:0030049 TAS - muscle filament sliding 0 Process 9 9606 7138 GO:0031014 IEA - troponin T binding 0 Function 10 9606 7138 GO:0031444 IEA - slow-twitch skeletal muscle fiber contraction 0 Process 11 9606 7138 GO:0045932 IDA - negative regulation of muscle contraction 18032382 Process