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Troponin T1, slow skeletal type gene (Gene Id: 7138  Symbol: TNNT1) in Homo sapiens

Functional stage: Cytoskeletal organization

Involved disease information

Category	Linked disease	Linked articles	Other references
Muscular dystrophy	Nemaline myopathy	25430424	NA
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. https://ghr.nlm.nih.gov/condition/nemaline-myopathy

Refseq information: 13

SNo.	Status	RNA nucleotide accession	Protein accession	Genomic nucleotide accession	Start position on genomic DNA	End position on genomic DNA	Orientation	Assembly	Symbol	UniProtkb ID	PDB ID
1	MODEL	XM_011527246.2	XP_011525548.1	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
2	MODEL	XM_017027186.1	XP_016882675.1	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
3	MODEL	XM_017027187.1	XP_016882676.1	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
4	REVIEWED	-	-	NG_011829.2	5000	21445	+	-	TNNT1	P13805	-
5	REVIEWED	NM_001126132.2	NP_001119604.1	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
6	REVIEWED	NM_001126132.2	NP_001119604.1	NC_018930.2	55637671	55654282	-	Alternate CHM1_	TNNT1	P13805	-
7	REVIEWED	NM_001126133.2	NP_001119605.1	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
8	REVIEWED	NM_001126133.2	NP_001119605.1	NC_018930.2	55637671	55654282	-	Alternate CHM1_	TNNT1	P13805	-
9	REVIEWED	NM_001291774.1	NP_001278703.1	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
10	REVIEWED	NM_001291774.1	NP_001278703.1	NC_018930.2	55637671	55654282	-	Alternate CHM1_	TNNT1	P13805	-
11	REVIEWED	NM_003283.5	NP_003274.3	NC_000019.10	55132697	55149353	-	Reference GRCh3	TNNT1	P13805	-
12	REVIEWED	NM_003283.5	NP_003274.3	NC_018930.2	55637671	55654282	-	Alternate CHM1_	TNNT1	P13805	-
13	REVIEWED	NM_003283.5	NP_003274.3	NG_011829.2	5000	21445	+	-	TNNT1	P13805	-

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Pubmed links

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GO Term: 11
SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	-	skeletal muscle contraction	Process	10952871
2	Homo sapiens	IPI	-	protein binding	Function	21516116
3	Homo sapiens	IMP	-	tropomyosin binding	Function	15665378
4	Homo sapiens	TAS	-	cytosol	Component	No
5	Homo sapiens	IDA	-	troponin complex	Component	18032382
6	Homo sapiens	IMP	-	troponin complex	Component	15665378
7	Homo sapiens	IEA	-	transition between fast and slow fiber	Process	No
8	Homo sapiens	TAS	-	muscle filament sliding	Process	No
9	Homo sapiens	IEA	-	troponin T binding	Function	No
10	Homo sapiens	IEA	-	slow-twitch skeletal muscle fiber contraction	Process	No
11	Homo sapiens	IDA	-	negative regulation of muscle contraction	Process	18032382