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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
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 ]
Physical map
TRIM11 1q42.13 tripartite motif-containing 11 TRIM17 1q42 tripartite motif-containing 17 HIST3H3 1q42 histone 3, H3 LOC391175 1 similar to 60S ribosomal protein L23a HIST3H2A 1q42.13 histone 3, H2a HIST3H2BB 1q42.13 histone 3, H2bb HIST3H2BA 1 histone 3, H2ba LOC149603 1q42.13 hypothetical protein LOC149603 FLJ31401 1q42.13 hypothetical protein FLJ31401 LOC388750 1 similar to Ferritin heavy chain (Ferritin H subunit) ARHU 1q42.11-q42.3 ras homolog gene family, member U LOC388751 1 LOC388751 RAB4A 1q42-q43 RAB4A, member RAS oncogene family SPHAR 1q42.11-q42.3 S-phase response (cyclin-related) LOC126731 1q42.13 LOC126731 ACTA1 1q42.13-q42.2 actin, alpha 1, skeletal muscle NUP133 1q42.13 nucleoporin 133kDa ABCB10 1q42 ATP-binding cassette, sub-family B (MDR/TAP), member 10 TAF5L 1q42.13 TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa KIAA0133 1q42.13 TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa LOC391177 1 similar to HMG-1 LOC388752 1 LOC388752 GALNT2 1q41-q42 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)
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