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FLASH GENE

Symbol

ACTA1

contributors: mct/npt - updated : 13-05-2014

HGNC name	actin, alpha 1, skeletal muscle
HGNC id	129

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACTM actin myopathy, congenital CFTD1 congenital fibre type disproportion 1 NEM3 nemaline myopathy 3
Location	1q42.13      Physical location : 229.566.994 - 229.569.843
Synonym name	alpha-actin-1
Synonym symbol(s)	ASMA, NEM1, NEM2, ACTA, CFTD, CFTD1, CFTDM, MPFD, NEM3

DNA

TYPE	functioning gene
STRUCTURE	2.85 kb     7 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	a 5' regulatory region characteristic of the actins and motifs interacting with trans-acting transcriptional factors

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D1S439 - [D1S1656 - D1S235 ] - qter
Authors	Mogensen (99)
Text	[ACTA1 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001100 7 - 1509 NP_001091 42 377 - Levine (1992)

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 Respiratory respiratory tract larynx     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

CAG box motif interacting with transacting transcriptional factors

mono polymer

polymer

HOMOLOGY

interspecies

homolog to murine Acta1

intraspecies

homolog to ACTC1

Homologene

FAMILY

actin family

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION

structural protein, major constituent of the contractile apparatus involved in cell motility, structure and integrity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

TNNT1 and TPM3 and ultimatily regulating the development of muscle contraction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACTM , NEM3 , CFTD1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS