ACTC1

ACTC1
Dynodwyr
Cyfenwau	ACTC1, ACTC, ASD5, CMD1R, CMH11, LVNC4, actin, alpha, cardiac muscle 1, actin alpha cardiac muscle 1
Dynodwyr allanol	OMIM: 102540 HomoloGene: 68446 GeneCards: ACTC1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • myosin binding • ATPase activity • ATP binding Cydrannau o'r gell • cytoplasm • cell body • cytosol • blood microparticle • bilen • I band • focal adhesion • filopodium • sarcomere • Microffilament • extracellular exosome • Cytosgerbwd • lamellipodium • extracellular space • synapse • glutamatergic synapse Prosesau biolegol • actin-myosin filament sliding • cardiac muscle contraction • actomyosin structure organization • negative regulation of apoptotic process • cardiac muscle tissue morphogenesis • actin filament-based movement • skeletal muscle thin filament assembly • cardiac myofibril assembly • actin-mediated cell contraction • GO:1901313 positive regulation of gene expression • muscle filament sliding • mesenchyme migration • response to ethanol • heart contraction • GO:0097285 apoptotic process • actin filament organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	70	n/a
Ensembl	ENSG00000159251	n/a
UniProt	P68032	n/a
RefSeq (mRNA)	NM_005159	n/a
RefSeq (protein)	NP_005150	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ACTC1 yw ACTC1 a elwir hefyd yn Actin, alpha, cardiac muscle 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 15, band 15q14.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ACTC1.

• ACTC
• ASD5
• CMD1R
• CMH11
• LVNC4

Llyfryddiaeth

• "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. ". PLoS One. 2015. PMID 26061005.
• "Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene. ". Rev Esp Cardiol (Engl Ed). 2014. PMID 25201647.
• "Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. ". Can J Cardiol. 2014. PMID 24461919.
• "Polymorphism in the alpha cardiac muscle actin 1 gene is associated to susceptibility to chronic inflammatory cardiomyopathy. ". PLoS One. 2013. PMID 24367596.
• "Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.". Cell Mol Life Sci. 2012. PMID 22643837.