TNNT1

GENE INFORMATION

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Gene name

TNNT1 (HGNC Symbol)

Synonyms

ANM, FLJ98147, MGC104241, NEM5, STNT, TNT, TNTS

Description

Troponin T type 1 (skeletal, slow) (HGNC Symbol)

Entrez gene summary

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. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

19

Cytoband

q13.42

Chromosome location (bp)

55132794 - 55149354

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105048 (version 78.38)

Entrez gene

7138

UniProt

P13805 (UniProt - Evidence at protein level)

neXtProt

NX_P13805

Antibodypedia

TNNT1 antibodies
 

PROTEIN VIEW

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 « 
 
TNNT1-001
 
TNNT1-002
 
TNNT1-003
 
TNNT1-004
 
TNNT1-005
 
TNNT1-007
 
TNNT1-009
 
TNNT1-010
 
TNNT1-011
 
TNNT1-012
 
TNNT1-015
 
TNNT1-016
 
TNNT1-018
 
TNNT1-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TNNT1-001 ENSP00000349233
ENST00000356783
P13805
Show all »
Show » Show » 251 30.1 No 0
TNNT1-002 ENSP00000467176
ENST00000588981
P13805
Show all »
Show » Show » 278 32.9 No 0
TNNT1-003 ENSP00000291901
ENST00000291901
P13805
Show all »
Show » Show » 262 31.2 No 0
TNNT1-004 ENSP00000467299
ENST00000588147
M0QX01
Show all »
Show » Show » 144 17.4 No 0
TNNT1-005 ENSP00000467789
ENST00000587758
P13805
Show all »
Show » Show » 251 30.1 No 0
TNNT1-007 ENSP00000465991
ENST00000588426
K7ELB0
Show all »
Show » Show » 159 19.2 No 0
TNNT1-009 ENSP00000470777
ENST00000593046
M0QZU8
Show all »
Show » Show » 204 24.4 No 0
TNNT1-010 ENSP00000470854
ENST00000589226
M0QZY5
Show all »
Show » Show » 151 18.2 No 0
TNNT1-011 ENSP00000467980
ENST00000585321
Q3B759
Show all »
Show » Show » 192 23.1 No 0
TNNT1-012 ENSP00000464843
ENST00000587465
Q3B759
Show all »
Show » Show » 192 23.1 No 0
TNNT1-015 ENSP00000467881
ENST00000593194
Q3B759
Show all »
Show » Show » 210 25.2 No 0
TNNT1-016 ENSP00000465686
ENST00000589745
Show » Show » 147 17.3 No 0
TNNT1-018 ENSP00000469564
ENST00000586649
Show » Show » 104 11.9 No 0
TNNT1-201 ENSP00000439640
ENST00000536926
Q3B759
Show all »
Show » Show » 192 23.1 No 0