Gene: [15q221/TPM1] tropomyosin 1 (skeletal muscle alpha); cardiomyopathy, hypertrophic 3 (MIM:115196); [TMSA CMH3 ]

COM

Tiso-1997 have refined the TPM1 gene location as 15 q22.1.

FUN

The muscle-specific tropomyosin peptides are components of the thin filaments of the sarcomere, the contractile element in muscle, and control contraction in a calcium-dependent manner."

FAG

[1] Humans and other vertebrates have at least 4 different tropomyosin genes: GEM:09p13/TPM2, muscle beta-tropomyosin; GEM:01q2/TPM3, non-muscular alpha tropomyosin; and GEM:19p131/TPM4, alpha(?)-tropomyosin.
[2] Two muscle-specific isoforms of tropomyosin, one alpha and one beta, form an alpha-helical dimer, bind head to tail, and lie in the major groove of filamentous actin with each tropomyosin molecule binding to 7 actin molecules. See details on muscle beta-tropomyosin in GEM:09p13/TPM2 and on actin gene family in FAM:ACT/00.0.
[3] In the sarcomere, the contractile element in muscle, each tropomyosin dimer is associated with a troponin complex (see on troponin genes FAM:TNN/00.0)."

EXP

Both the muscle and nonmuscle isoforms of the tropomyosins are expressed through alternative splicing of each of the 4 genes. The muscle-specific isoforms of the different tropomyosin genes are differentially expressed in different muscle fiber types and in the heart. The muscle isoform of alpha-tropomyosin, TPM1, is expressed at higher levels in fast muscle fibers and the heart than in slow muscle fibers, whereas the nonmuscle isoform of alpha-tropomyosin, TPM3, is expressed more in slow, type I, muscle fibers than in fast muscle fibers and the heart."

REF

LOC "Eyre H &: CCG, 69, 15-17, 1995
PAT,MUT "Golitsina N &: Biochemistry, 36, N15, 4637-4642, 1997
PAT,MUT "Kimura A &: Nature Genet, 16, 379-382, 1997
IDN,PRO,COD,SEQ,EXP "Lees-Miller JP, Helfman DM: BioEssays, 13, 429-437, 1991
IDN,PRO,COD,SEQ,EXP "MacLeod AR, Gooding C: Mol Cell Biol, 8, 433-440, 1988
FUN,MEB "Nadal-Ginard B, Mahdavi V: J Clin Invest, 84, 1693-1700, 1989
MUT,PAT "Thierfelder L &: Cell, 77, 701-712, 1994
LOC,FAG "Tiso N &: BBRC, 230, 347-350, 1997
MUT,PAT "Watkins H &: Circulation, 91, 2302-2305, 1995a
MUT,PAT "Watkins H &: New Engl J Med, 332, 1058-1064, 1995b

SWI

 SWISSPROT: P09493; TPMF P09494; TPMS P10469

KEY

myo, cysk, card

CLA

coding, basic

LOC

15 q22.1

MIM

 MIM: 191010

SYN

TMSA CMH3

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