ACTG1

ACTG1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 5JLH
Dynodwyr
Cyfenwau	ACTG1, ACT, ACTG, BRWS2, DFNA20, DFNA26, HEL-176, actin gamma 1
Dynodwyr allanol	OMIM: 102560 HomoloGene: 74402 GeneCards: ACTG1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • GO:0001948, GO:0016582 protein binding • ATP binding • ubiquitin protein ligase binding • identical protein binding • structural constituent of cytoskeleton • profilin binding Cydrannau o'r gell • focal adhesion • cnewyllyn cell • dense body • cytoplasm • bilen • cytosol • extracellular exosome • blood microparticle • Cellbilen • Cytosgerbwd • GO:0005578 extracellular matrix • extracellular space • actin cytoskeleton • Myoffibril • filamentous actin • myelin sheath • Microffilament Prosesau biolegol • cell junction assembly • ephrin receptor signaling pathway • platelet aggregation • Fc-gamma receptor signaling pathway involved in phagocytosis • retina homeostasis • vascular endothelial growth factor receptor signaling pathway • membrane organization • sarcomere organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	71	n/a
Ensembl	ENSG00000184009	n/a
UniProt	P63261	n/a
RefSeq (mRNA)	NM_001199954 NM_001614	n/a
RefSeq (protein)	NP_001186883 NP_001605	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 ACTG1 yw ACTG1 a elwir hefyd yn Actin, cytoplasmic 2 (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 17, band 17q25.3.

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 ACTG1.

• ACT
• ACTG
• DFNA20
• DFNA26
• HEL-176

Llyfryddiaeth

• "Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. ". Am J Med Genet A. 2016. PMID 27240540.
• "A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. ". Ophthalmic Genet. 2017. PMID 27096712.
• "Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. ". BMC Genet. 2016. PMID 26832775.
• "Plasma levels of F-actin and F:G-actin ratio as potential new biomarkers in patients with septic shock. ". Biomarkers. 2016. PMID 26754286.
• "Rare ACTG1 variants in fetal microlissencephaly.". Eur J Med Genet. 2015. PMID 26188271.