ACTN1

Protein sy'n cael ei godio yn y corff dynol gan y genyn ACTN1 yw ACTN1 a elwir hefyd yn Actinin, alpha 1, isoform CRA_a (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 14, band 14q24.1|14q22-q24.

ACTN1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2EYI, 2EYN, 2N8Z, 2N8Y
Dynodwyr
Cyfenwau	ACTN1, BDPLT15, actinin alpha 1
Dynodwyr allanol	OMIM: 102575 HomoloGene: 55553 GeneCards: ACTN1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • protein homodimerization activity • transmembrane transporter binding • vinculin binding • metal ion binding • integrin binding • actin filament binding • GO:0001948, GO:0016582 protein binding • nuclear receptor coactivator activity • double-stranded RNA binding • actin binding • structural constituent of postsynapse Cydrannau o'r gell • cytoplasm • cytosol • cell projection • pseudopodium • bilen • cell-cell junction • focal adhesion • ruffle • Cellbilen • intracellular anatomical structure • stress fiber • extracellular region • cell junction • Z discdkac • brush border • Microffilament • fascia adherens • extracellular exosome • Cytosgerbwd • platelet alpha granule lumen • sarcomere • extracellular space • glutamatergic synapse Prosesau biolegol • regulation of apoptotic process • actin filament organization • actin filament network formation • platelet degranulation • platelet formation • actin filament bundle assembly • focal adhesion assembly • actin crosslink formation • platelet morphogenesis • platelet aggregation • platelet activation • regulation of nucleic acid-templated transcription • postsynapse organization • positive regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	87	n/a
Ensembl	ENSG00000072110	n/a
UniProt	P12814	n/a
RefSeq (mRNA)	NM_001102 NM_001130004 NM_001130005	n/a
RefSeq (protein)	NP_001093 NP_001123476 NP_001123477 NP_001093.1	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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 ACTN1.

• BDPLT15

Llyfryddiaeth

• "ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia. ". J Pediatr Hematol Oncol. 2017. PMID 28562514.
• "The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. ". Mol Med Rep. 2016. PMID 27357517.
• "Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association. ". FEBS Lett. 2016. PMID 26879394.
• "Anti-alpha-actinin antibodies are part of the anti-cell membrane antibody spectrum that characterize patients with lupus nephritis. ". J Autoimmun. 2015. PMID 26071203.
• "Alpha actinin-1 regulates cell-matrix adhesion organization in keratinocytes: consequences for skin cell motility.". J Invest Dermatol. 2015. PMID 25431851.