ACTN4

ACTN4
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1WLX, 1YDI, 2R0O
Dynodwyr
Cyfenwau	ACTN4, ACTININ-4, FSGS, FSGS1, Actinin alpha 4
Dynodwyr allanol	OMIM: 604638 HomoloGene: 55857 GeneCards: ACTN4
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • metal ion binding • calcium ion binding • actin binding • GO:0032403 protein-containing complex binding • RNA polymerase II transcription regulatory region sequence-specific DNA binding • protein homodimerization activity • protein N-terminus binding • nucleoside binding • transmembrane transporter binding • nuclear receptor coactivator activity • integrin binding • retinoic acid receptor binding • chromatin DNA binding • GO:0001948, GO:0016582 protein binding • actin filament binding • RNA binding • GO:0001105 transcription coactivator activity Cydrannau o'r gell • extracellular exosome • extracellular region • brush border • pseudopodium • cytoplasm • actin cytoskeleton • cell junction • cnewyllyn cell • stress fiber • cell-cell junction • neuron projection • focal adhesion • platelet alpha granule lumen • intracellular anatomical structure • Z discdkac • perinuclear region of cytoplasm • cortical cytoskeleton • extracellular space • cytosol • nuclear body • Cytosgerbwd • GO:0009327 protein-containing complex • ribonucleoprotein complex Prosesau biolegol • response to hypoxia • vesicle transport along actin filament • actin filament bundle assembly • positive regulation of NIK/NF-kappaB signaling • regulation of apoptotic process • positive regulation of cell migration • bicellular tight junction assembly • positive regulation of sodium:proton antiporter activity • protein localization to bicellular tight junction • platelet degranulation • positive regulation of pinocytosis • retinoic acid receptor signaling pathway • regulation of nucleic acid-templated transcription • protein transport • peroxisome proliferator activated receptor signaling pathway • negative regulation of substrate adhesion-dependent cell spreading • GO:0015915 transport • tumor necrosis factor-mediated signaling pathway • positive regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	81	n/a
Ensembl	ENSG00000130402 ENSG00000282844	n/a
UniProt	O43707	n/a
RefSeq (mRNA)	NM_004924 NM_001322033	n/a
RefSeq (protein)	NP_001308962 NP_004915	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 ACTN4 yw ACTN4 a elwir hefyd yn Alpha-actinin-4 ac Actinin alpha 4 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 19, band 19q13.2.

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 ACTN4.

• FSGS
• FSGS1
• ACTININ-4

Llyfryddiaeth

• "Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing. ". PLoS One. 2016. PMID 27977723.
• "Efficacy of adjuvant chemotherapy for non-small cell lung cancer assessed by metastatic potential associated with ACTN4. ". Oncotarget. 2016. PMID 27121206.
• "α-Actinin-4 induces the epithelial-to-mesenchymal transition and tumorigenesis via regulation of Snail expression and β-catenin stabilization in cervical cancer. ". Oncogene. 2016. PMID 27065319.
• "Dynamic Regulation of α-Actinin's Calponin Homology Domains on F-Actin. ". Biophys J. 2016. PMID 27028653.
• "Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.". Hum Mol Genet. 2016. PMID 26740551.