ACTA1

ACTA1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1T44
Dynodwyr
Cyfenwau	ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, Actin, alpha 1, SHPM, actin, alpha 1, skeletal muscle, actin alpha 1, skeletal muscle
Dynodwyr allanol	OMIM: 102610 HomoloGene: 121702 GeneCards: ACTA1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • myosin binding • ADP binding • structural constituent of cytoskeleton • GO:0001948, GO:0016582 protein binding • ATP binding Cydrannau o'r gell • cytoplasm • cell body • cytosol • blood microparticle • filopodium • sarcomere • striated muscle thin filament • stress fiber • hylif allgellog • Microffilament • actin cytoskeleton • extracellular exosome • Cytosgerbwd • lamellipodium Prosesau biolegol • muscle contraction • response to steroid hormone • skeletal muscle fiber adaptation • response to mechanical stimulus • skeletal muscle thin filament assembly • response to lithium ion • cell growth • GO:1901313 positive regulation of gene expression • muscle filament sliding • mesenchyme migration • response to extracellular stimulus • skeletal muscle fiber development Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	58	n/a
Ensembl	ENSG00000143632	n/a
UniProt	P68133	n/a
RefSeq (mRNA)	NM_001100	n/a
RefSeq (protein)	NP_001091	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 ACTA1 yw ACTA1 a elwir hefyd yn Actin, alpha 1, skeletal muscle (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 1, band 1q42.13.

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 ACTA1.

• ACTA
• ASMA
• CFTD
• MPFD
• NEM1
• NEM2
• NEM3
• SHPM
• CFTD1
• CFTDM

Llyfryddiaeth

• "Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. ". Muscle Nerve. 2016. PMID 26172852.
• "Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. ". JAMA Neurol. 2015. PMID 25938801.
• "Severe congenital actin related myopathy with myofibrillar myopathy features. ". Neuromuscul Disord. 2015. PMID 25913210.
• "Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). ". Neuromuscul Disord. 2015. PMID 25747004.
• "Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.". Neurology. 2015. PMID 25746564.