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FLASH GENE

Symbol

TPM1

contributors: mct/npt - updated : 06-06-2012

HGNC name	tropomyosin 1 (alpha)
HGNC id	12010

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1Y cardiomyopathy, dilated 1Y CMH3 cardiomyopathy, familial, hypertrophic, 3
Location	15q22.2      Physical location : 63.334.837 - 63.364.111
Synonym name	sarcomeric tropomyosin kappa
	chromosome 15 open reading frame 13
	alpha-tropomyosin
Synonym symbol(s)	TMSA, HTM-alpha, TPM1-alpha, TPM1-kappa, C15orf13, CMH3

DNA

TYPE	functioning gene
STRUCTURE	29.30 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D15S161 - D15S209 - D15S159 /TPM1 - D15S1196 - qter
Authors	Tiso (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001018004 9 - 1797 NP_001018004 - 284 - 1999 10343096 NM_001018008 - - 1566 NP_001018008 - 245 - 1999 10343096 TMBr-3 brain isoform NM_001018007 9 - 1797 NP_001018007 - 284 the smooth muscle isoform 1999 10343096 NM_001018005 10 - 1246 NP_001018005 - 284 fast skeletal muscle isoform 1999 10343096 NM_001018006 9 - 1797 NP_001018006 - 284 - 1999 10343096 TM-3 fibroblast isoform NM_000366 10 - 1294 NP_000357 - 284 - 1999 10343096 NM_001018020 9 - 1797 NP_001018020 - 284 - 1999 10343096 I kappa 9 - 858 - 284 expressed in cardiac tissues 2010 20065163 TPM1kappa contains exon 2a instead of 2b expressed and incorporated into organized myofibrils in hearts and its level is increased in dilated cardiomyopathy and heart failure I alpha - - 858 - 284 specific to striated muscle 1999 10343096 10 exons: 1a, 2b, 3, 4, 5, 6b, 7, 8, and 9a/b

EXPRESSION

Type	ubiquitous

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

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular smooth       Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

dimer

HOMOLOGY

interspecies

homolog to murine Tpm1

Homologene

FAMILY

tropomyosin family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	sarcomeric protein

basic FUNCTION

playing a central role in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimerizing to form a helical coiled coil constituent binding to actin in the troponin complex (thin filament) that regulates calcium-dependent binding of actin and myosin and muscle contraction

INTERACTION

DNA

RNA

small molecule

protein

importance of the NEBL-TPM1 interactions in the maintenance and stability of the thin filaments

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMH3 , CMD1Y , LVNC3

related resource

FHC Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in breast cancer through hypermethylation of and chromatin remodeling

Susceptibility

to metabolic syndrome to clubfoot

Variant & Polymorphism other	polymorphism in the TPM1 short isoform promoter region is predicted to alter transcription factor binding, alters gene expression and is associated with the metabolic syndrome
	variants influencing risk for isolated clubfoot

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS