• Gene id: 7138

Gene Summary

• Gene Symbol: TNNT1   Gene   UCSC   Ensembl
• Aliases: ANM, NEM5, STNT, TNT, TNTS
• Gene name: troponin T1, slow skeletal type
• Alternate names: troponin T, slow skeletal muscle, slow skeletal muscle troponin T, troponin T type 1 (skeletal, slow), troponin-T1, skeletal, slow,
• Gene location: 19q13.42 (55149331: 55132697)     Exons: 15     NC_000019.10
• Gene summary(Entrez): This 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.
• OMIM: 606182

Protein Summary

• Protein general information: P13805  
  • Name: Troponin T, slow skeletal muscle (TnTs) (Slow skeletal muscle troponin T) (sTnT)
  • Length: 278  
  • Mass: 32948
• Sequence:

  MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDL
  LELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKK
  KKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCPAREKAQE
  LSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK

• Structural information:
  • Interpro: IPR027707  IPR001978  IPR038077  
  • STRING: ENSP00000467176
• Other Databases: GeneCards:  TNNT1  Malacards:  TNNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005861	troponin complex	IBA	cellular component
GO:0030899	calcium-dependent ATPase activity	IBA	contributes to
GO:0031014	troponin T binding	IBA	molecular function
GO:0003009	skeletal muscle contraction	IBA	biological process
GO:0006936	muscle contraction	IBA	biological process
GO:0045214	sarcomere organization	IBA	biological process
GO:0060048	cardiac muscle contraction	IBA	biological process
GO:0005861	troponin complex	IEA	cellular component
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014883	transition between fast and slow fiber	IEA	biological process
GO:0031014	troponin T binding	IEA	molecular function
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0005861	troponin complex	IEA	cellular component
GO:0031444	slow-twitch skeletal muscle fiber contraction	IEA	biological process
GO:0045932	negative regulation of muscle contraction	IDA	biological process
GO:0005861	troponin complex	IDA	cellular component
GO:0005523	tropomyosin binding	IMP	molecular function
GO:0005861	troponin complex	IMP	cellular component
GO:0003009	skeletal muscle contraction	IMP	biological process

Diseases

Associated diseases	References
Nemaline myopathy	KEGG:H00698
Nemaline myopathy	KEGG:H00698
Nemaline myopathy 5	PMID:10952871
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray