Alpha-actinin-1

ACTN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2EYI, 2EYN, 2N8Z, 2N8Y
Identifiers
Aliases	ACTN1, BDPLT15, actinin alpha 1
External IDs	OMIM: 102575; MGI: 2137706; HomoloGene: 55553; GeneCards: ACTN1; OMA:ACTN1 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	68,979,440 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	80,307,145 bp
RNA expression pattern
	Top expressed in
	saphenous vein; ; ascending aorta; ; right coronary artery; ; popliteal artery; ; tibial arteries; ; stromal cell of endometrium; ; Descending thoracic aorta; ; smooth muscle tissue; ; myometrium; ; gastric mucosa;
	Top expressed in
	vestibular membrane of cochlear duct; ; Ileal epithelium; ; granulocyte; ; stria vascularis; ; tunica media of zone of aorta; ; endothelial cell of lymphatic vessel; ; ascending aorta; ; external carotid artery; ; internal carotid artery; ; ciliary body;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein homodimerization activity; transmembrane transporter binding; vinculin binding; metal ion binding; integrin binding; actin filament binding; protein binding; nuclear receptor coactivator activity; double-stranded RNA binding; actin binding; structural constituent of postsynapse;
Cellular component	cytoplasm; cytosol; cell projection; pseudopodium; membrane; cell-cell junction; focal adhesion; ruffle; plasma membrane; intracellular anatomical structure; stress fiber; extracellular region; cell junction; Z discdkac; brush border; actin filament; fascia adherens; extracellular exosome; cytoskeleton; platelet alpha granule lumen; sarcomere; extracellular space; glutamatergic synapse;
Biological process	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
Orthologs
	87
	109711
	ENSG00000072110
	ENSMUSG00000015143
	P12814
	Q7TPR4
	NM_001102; NM_001130004; NM_001130005
	NM_134156; NM_001346669; NM_001379075; NM_001379076
	NP_001093; NP_001123476; NP_001123477; NP_001093.1
	NP_001333598; NP_598917; NP_001366004; NP_001366005
	Wikidata
View/Edit Human	View/Edit Mouse

Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000072110 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015143 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Youssoufian H, McAfee M, Kwiatkowski DJ (Jul 1990). "Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene". Am J Hum Genet. 47 (1): 62–72. PMC 1683765. PMID 2349951.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000072110 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000015143 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2349951-5] Youssoufian H, McAfee M, Kwiatkowski DJ (Jul 1990). "Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene". Am J Hum Genet. 47 (1): 62–72. PMC 1683765. PMID 2349951.

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