Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ACTA1 contributors: mct/npt - updated : 13-05-2014
HGNC name actin, alpha 1, skeletal muscle
HGNC id 129
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
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1509 42 377 - Levine (1992)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumskeletal  
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