Property Summary

NCBI Gene PubMed Count 103
PubMed Score 154.42
PubTator Score 40.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
psoriasis 6685 2.35734106258846E-38
Duchenne muscular dystrophy 602 4.13176469437437E-11
juvenile dermatomyositis 1189 7.1851474043585E-9
limb girdle muscular dystrophy 2A 156 8.45188263777544E-9
sonic hedgehog group medulloblastoma 1482 9.32295504756983E-6
acute quadriplegic myopathy 1157 1.37527313595563E-5
adult high grade glioma 2148 1.84531150942829E-5
Becker muscular dystrophy 187 5.04255895122259E-5
Amyotrophic Lateral Sclerosis 432 1.25835684062716E-4
medulloblastoma, large-cell 6234 2.17098262576863E-4
X-linked recessive Emery-Dreifuss muscular dystrophy 18 0.00825648249472311
facioscapulohumeral dystrophy 286 0.0258735043670939
osteosarcoma 7933 0.0340191814521149
Disease Target Count Z-score Confidence
Cardiomyopathy 110 5.425 2.7
Atrial heart septal defect 15 0.0 4.0

Expression

Synonym

Accession P68032 P04270
Symbols ACTC
ASD5
CMD1R
CMH11
LVNC4

Gene

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Pig OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA Inparanoid
Xenopus OMA EggNOG
S.cerevisiae OMA EggNOG

Gene RIF (78)

PMID Text
26061005 A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene
25863306 We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins
25524337 In adult Hypertrophic Cardiomyopathy patients, thin-filament gene ACTC1 mutations are associated with increased likelihood of advanced Left Ventricular dysfunction and heart failure compared with thick-filament disease.
25451174 The first step of hypertrophic cardiomyopathy pathogenesis with E99K is increased calcium sensitivity and decreased calcium cooperativity, which result in larger tension during partial activation to cause a diastolic problem.
25201647 highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction.
24742657 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution
24736382 Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease.
24461919 Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach.
24367596 Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy
23875777 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution
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AA Sequence

MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLK      1 - 70
YPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQA     71 - 140
VLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREI    141 - 210
VRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETT    211 - 280
YNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS    281 - 350
LSTFQQMWISKQEYDEAGPSIVHRKCF                                               351 - 377
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Text Mined References (105)

PMID Year Title
26228148 2015 ACTIN-DIRECTED TOXIN. ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.
26061005 2015 A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
25863306 2015 Dextrocardia and symmetric hypertrophic cardiomyopathy with multiple mutations of genes encoding the sarcomere proteins.
25524337 2014 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
25451174 2015 The immediate effect of HCM causing actin mutants E99K and A230V on actin-Tm-myosin interaction in thin-filament reconstituted myocardium.
24736382 2014 Altered interactions between cardiac myosin binding protein-C and ?-cardiac actin variants associated with cardiomyopathies.
24461919 2014 Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
24367596 2013 Polymorphism in the alpha cardiac muscle actin 1 gene is associated to susceptibility to chronic inflammatory cardiomyopathy.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
23834555 2015 Evaluating the association between pathological myopia and SNPs in RASGRF1. ACTC1 and GJD2 genes at chromosome 15q14 and 15q25 in a Chinese population.
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