Alpha-actinin-1

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

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)[1] Band 14q24.1|14q22-q24 Start 68,874,128 bp[1] End 68,979,440 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 C3|12 36.49 cM Start 80,214,321 bp[2] End 80,307,145 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 87 109711 Ensembl ENSG00000072110 ENSMUSG00000015143 UniProt P12814 Q7TPR4 RefSeq (mRNA) NM_001102 NM_001130004 NM_001130005 NM_134156 NM_001346669 NM_001379075 NM_001379076 RefSeq (protein) NP_001093 NP_001123476 NP_001123477 NP_001093.1 NP_001333598 NP_598917 NP_001366004 NP_001366005 Location (UCSC) Chr 14: 68.87 – 68.98 Mb Chr 12: 80.21 – 80.31 Mb PubMed search [3] [4]
Wikidata
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Function

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha-actinin-1 is an F-actin cross-linking protein – a bundling protein that is thought to anchor actin to a number of intracellular structures.^[6] Alpha-actinin-1 is a non-muscle cytoskeletal isoform found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments.^[7]

Interactions

Alpha-actinin-1 has been shown to interact with:

• CDK5R1,^[8]
• CDK5R2,^[8]
• Collagen, type XVII, alpha 1,^[9]
• GIPC1,^[10]
• PDLIM1,^[11][12]
• Protein kinase N1,^[13]
• SSX2IP,^[14] and
• Zyxin.^[15][16]
• PTPRT (PTPrho)^[17]

See also

• Actinin