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FLASH GENE

Symbol

TNNT1

contributors: mct - updated : 03-04-2018

HGNC name	troponin T type 1 (skeletal, slow)
HGNC id	11948

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEM5 nemaline myopathy 5
Location	19q13.42      Physical location : 55.644.161 - 55.660.606
Synonym name	skeletal muscle slow-twitch TnT
	troponin T1, skeletal, slow
Synonym symbol(s)	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, HSSTnT

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	upstream and in tandem with TNNT3
STRUCTURE	16.66 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see NEM3

RNA

TRANSCRIPTS	type	messenger

text	has different isoforms produced by alternative splicing of the two exons located in two different domains (exon 5 located in the N terminus and exon 12 located in the C terminus)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001126133 13 splicing 1178 NP_001119605 30 251 - 2012 22977240 HSSTnT2 having exon 5, but not exon 12 NM_001126132 14 splicing 1211 NP_001119604 31 262 - 2012 22977240 NM_003283 14 splicing 1259 NP_003274 32.8 278 - 2012 22977240 HSSTnT1 having exons 5 and 12 may be more susceptible to calpain cleavage than the other HSSTnTs NM_001291774 14 - 1273 NP_001278703 - 251 - 2012 22977240

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth       highly Endocrine pancreas         Nervous brain         Reproductive male system prostate       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular exocrine   Muscular striatum skeletal   highly Homo sapiens Adult Muscular striatum cardiac   highly Homo sapiens Muscular striatum skeletal     Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to murine Tnnt1
	homolog to C.elegans C05D11.13

Homologene

FAMILY

troponin T family

CATEGORY

motor/contractile , regulatory , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	involved in the attachment of the complex to tropomyosin and troponin I
	regulating muscle contraction
	sarcomeric thin filament anchoring subunit of the troponin complex in striated muscles

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	muscle development

PATHWAY

metabolism

signaling

a component

constituent of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration

INTERACTION

DNA

RNA

small molecule

protein	binding to TPM3 and ACTA1
	cardiac expression of TNNT1 strictly depends on the physical interaction between GATA4-ZFPM2 in the myocardium of both atria and ventricles

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEM5

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	marker for cardiac remodeling in hypertrophic cardiomyopathy
Therapy target

ANIMAL & CELL MODELS