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FLASH GENE

Symbol

ACTC1

contributors: SGE/npt - updated : 13-07-2010

HGNC name	actin, alpha, cardiac muscle 1
HGNC id	143

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

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 Homo sapiens Adult Nervous brain

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to murine Actc1 (100.00pc)
	ortholog to rattus Actc1 (100.00pc)

intraspecies

homolog to ACTA1

Homologene

FAMILY

actin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
text	actin cytoskeleton

basic FUNCTION

playing a critical role for normal cardiac morphogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	major constituent of the contractile apparatus
	major component of the sarcomeric thin filaments and essential for cardiac muscle contraction

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1R , ASD5 , CMH11

Susceptibility

Variant & Polymorphism

Candidate gene	marker of fibrosis progression after hepatitis B infection
	E101K mutation in two probands of left ventricular non compaction 4 (Klaassen 2008)
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   its over-expression in postnatal skeletal muscle can significantly lessen the disease severity of at least one dominant ACTA1 mutation: p.D286G

ANIMAL & CELL MODELS