TNNT1

Protein identityUniProt · HPA

UniProt accession

P13805

Gene

TNNT1

Ensembl

ENSG00000105048

Chromosome

19

Canonical length

278 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

278 residues, UniProt reviewed canonical sequence.

>P13805|TNNT1
     1  MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL IPPKIPEGER
    61  VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK ERIERRRSER AEQQRFRTEK
   121  ERERQAKLAE EKMRKEEEEA KKRAEDDAKK KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE
   181  MKVRILSERK KPLDIDYMGE EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL
   241  MAKLKQQKYE INVLYNRISH AQKFRKGAGK GRVGGRWK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TNNT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.57

Highest tissue expression

20,208 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TNNT1.

Disease | AllUniProt

Conditions TNNT1 is implicated in, by any mechanism.

• Nemaline myopathy 5A, autosomal recessive, severe infantile (NEM5A) MIM:605355
• Nemaline myopathy 5B, autosomal recessive, childhood-onset (NEM5B) MIM:620386
• Nemaline myopathy 5C, autosomal dominant (NEM5C) MIM:620389

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 433 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Nemaline myopathy 5
• Nemaline myopathy 5B, autosomal recessive, childhood-onset
• Nemaline myopathy 5C, autosomal dominant
• TNNT1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.48

gnomAD pLI

0

gnomAD missense Z

0.99

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• sarcomere organization
• skeletal muscle contraction
• transition between fast and slow fiber
• negative regulation of muscle contraction
• slow-twitch skeletal muscle fiber contraction

Molecular functions

• tropomyosin binding
• troponin T binding

Cellular components

• cytosol
• troponin complex

Protein domainsUniProt · Pfam · InterPro

• Troponin
• Troponin T
• Troponin domain superfamily
• Troponin

KeywordsUniProt

• Muscle protein
• Nemaline myopathy
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of TNNT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TPM3
• ARMC8
• PSMC5
• TPM1