My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    ACTN1 actinin, alpha 1 [ Homo sapiens ]

    Gene ID: 87, updated on 19-May-2012
    Help top of page

    Summary

    Official Symbol
    ACTN1provided by HGNC
    Official Full Name
    actinin, alpha 1provided by HGNC
    Primary source
    HGNC:163
    See related
    Ensembl:ENSG00000072110; HPRD:00020; MIM:102575; Vega:OTTHUMG00000171386
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ40884; FLJ54432
    Summary
    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 is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is 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. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Help top of page

    Genomic context

    Location :
    14q24; 14q22-q24
    Sequence :
    Chromosome: 14; NC_000014.8 (69340840..69446083, complement)
    See ACTN1 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene mago-nashi homolog 2, proliferation-associated (Drosophila), pseudogene Neighboring gene basic leucine zipper nuclear factor 2 pseudogene Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 3 Neighboring gene barrier to autointegration factor 1 pseudogene 1 Neighboring gene ribosomal protein S29 pseudogene 1 Neighboring gene DDB1 and CUL4 associated factor 5 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). Lopitz-Otsoa F, et al. J Proteomics, 2012 Jun 6. PMID 22178446.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Localization of the invadopodia-related proteins actinin-1 and cortactin to matrix-contact-side cytoplasm of cancer cells in surgically resected lung adenocarcinomas. Hirooka S, et al. Pathobiology, 2011. PMID 21474972.
    5. HAMLET binding to α-actinin facilitates tumor cell detachment. Trulsson M, et al. PLoS One, 2011 Mar 8. PMID 21408150.

    See all (114) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Actinin-1 and cortactin showed matrix-contact-side localization in adenocarcinoma cells.
      Title: Localization of the invadopodia-related proteins actinin-1 and cortactin to matrix-contact-side cytoplasm of cancer cells in surgically resected lung adenocarcinomas.
    2. The results suggest that the interaction between HAMLET and alpha-actinins promotes tumor cell detachment.
      Title: HAMLET binding to α-actinin facilitates tumor cell detachment.
    3. Identification of a 31 kD amino-terminal fragment of alpha-actinin protein, named mactinin, that promotes monocyte/macrophage maturation in vitro.
      Title: A fragment of alpha-actinin promotes monocyte/macrophage maturation in vitro.
    4. Mactinin is a novel inducer of Hsp90 activity on monocytes and may serve to perpetuate and augment monocytic activation.
      Title: Mactinin, a fragment of cytoskeletal alpha-actinin, is a novel inducer of heat shock protein (Hsp)-90 mediated monocyte activation.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    6. Alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells.
      Title: Alpha-actinin 1 and alpha-actinin 4: contrasting roles in the survival, motility, and RhoA signaling of astrocytoma cells.
    7. Both alpha-actinin-1 and alpha-actinin-4 make critical and distinct contributions to cytoskeletal organization, rigidity-sensing, and motility of glioma cells.
      Title: Isoform-specific contributions of alpha-actinin to glioma cell mechanobiology.
    8. cathepsin X overexpression reduced LFA-1 clustering and induced an intermediate affinity LFA-1 conformation that is known to associate with alpha-actinin-1.
      Title: Cathepsin X cleaves the beta2 cytoplasmic tail of LFA-1 inducing the intermediate affinity form of LFA-1 and alpha-actinin-1 binding.
    9. study examines the mechanism by which phosphoinositide binding regulates alpha-actinin function
      Title: Phosphoinositide binding regulates alpha-actinin CH2 domain structure: analysis by hydrogen/deuterium exchange mass spectrometry.
    10. Data describe alterations of myocardial intercellular and cell-matrix contacts in hypertrophic tissue, and show intracellular translocation of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 in both an animal model and in LVH patients.
      Title: Expression and tissue localization of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 is modulated during rat and human left ventricular hypertrophy.
    Submit: New GeneRIF Correction See all (29)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Genome-wide and candidate gene association study of cigarette smoking behaviors.

    Help top of page

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Alpha-actinin is cleaved in vitro by HIV-1 protease at amino acid residues 166-167 and 471-472 PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001093.1 NP_751928.1 HCVgp1    BIND  PubMed NS5B interacts with alpha-actinin. 
    NP_001093.1 NP_066272.1 PDLIM1    BIND  PubMed CLP-36 interacts with alpha-actinin 1. This interaction was modeled on a demonstrated interaction between human CLP-36 and chicken alpha-actinin 1. 
    NP_001093.1 NP_004286.2 TRAF4    BIND  PubMed TRAF4 interacts with alpha-actinin. 
    P12814 P12814 ACTN1    HPRD  PubMed  
    P12814 P29274 ADORA2A    HPRD  PubMed  
    P12814 Q99700 ATXN2    HPRD  PubMed  
    P12814 Q9UQM7 CAMK2A    HPRD  PubMed  
    P12814 Q00535 CDK5    HPRD  PubMed  
    P12814 Q15078 CDK5R1    HPRD  PubMed  
    P12814 Q13319 CDK5R2    HPRD  PubMed  
    P12814 Q9NZA1 CLIC5    HPRD  PubMed  
    P12814 P38432 COIL    HPRD  PubMed  
    P12814 Q9UMD9 COL17A1    HPRD  PubMed  
    P12814 P21291 CSRP1    HPRD  PubMed  
    P12814 P50461 CSRP3    HPRD  PubMed  
    P12814 P35221 CTNNA1    HPRD  PubMed  
    P12814 P09467 FBP1    HPRD  PubMed  
    P12814 Q16595 FXN    HPRD  PubMed  
    P12814 Growth factor independent 1B GFI1B    HPRD  PubMed  
    P12814 O14908 GIPC1    HPRD  PubMed  
    P12814 P48058 GRIA4    HPRD  PubMed  
    P12814 Q12879 GRIN2A    HPRD  PubMed  
    P12814 Q92831 KAT2B    HPRD  PubMed  
    P12814 Q93052 LPP    HPRD  PubMed  
    P12814 P43364 MAGEA11    HPRD  PubMed  
    P12814 O60244 MED14    HPRD  PubMed  
    P12814 Q9UBF9 MYOT    HPRD  PubMed  
    P12814 Q9NP98 MYOZ1    HPRD  PubMed  
    P12814 Q9NPC6 MYOZ2    HPRD  PubMed  
    P12814 Q8TDC0 MYOZ3    HPRD  PubMed  
    P12814 O76041 NEBL    HPRD  PubMed  
    P12814 Q13133 NR1H3    HPRD  PubMed  
    P12814 Palladin PALLD    HPRD  PubMed  
    P12814 O00151 PDLIM1    HPRD  PubMed  
    P12814 Q96HC4 PDLIM5    HPRD  PubMed  
    P12814 P98161 PKD1    HPRD  PubMed  
    P12814 Q16512 PKN1    HPRD  PubMed  
    P12814 O14939 PLD2    HPRD  PubMed  
    P12814 Q05397 PTK2    HPRD  PubMed  
    P12814 P18031 PTPN1    HPRD  PubMed  
    P12814 P29350 PTPN6    HPRD  PubMed  
    P12814 P11216 PYGB    HPRD  PubMed  
    P12814 Q8IY67 RAVER1    HPRD  PubMed  
    P12814 P14672 SLC2A4    HPRD  PubMed  
    P12814 P12931 SRC    HPRD  PubMed  
    P12814 Q9Y2D8 SSX2IP    HPRD  PubMed  
    P12814 Q9UGI8 TES    HPRD  PubMed  
    P12814 Q8WZ42 TTN    HPRD  PubMed  
    P12814 P18206 VCL    HPRD  PubMed  
    P12814 Q13426 XRCC4    HPRD  PubMed  
    P12814 Q15942 ZYX    HPRD  PubMed  
    BioGRID:106602 BioGRID:106602 ACTN1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106602 BioGRID:106821 APC    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:112221 ATXN7    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:107227 CACNA1A    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:107434 CDH1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106602 BioGRID:114376 CDK5R1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106602 BioGRID:114453 CDK5R2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106602 BioGRID:107479 CEBPA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106602 BioGRID:107704 COL17A1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106602 BioGRID:107876 CTNNA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106602 BioGRID:107975 DAG1    BioGRID  PubMed Affinity Capture-Western; FRET 
    BioGRID:106602 BioGRID:116733 DDN    BioGRID  PubMed Co-localization; Reconstituted Complex; Two-hybrid 
    BioGRID:106602 BioGRID:115978 GIPC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106602 BioGRID:109894 ITGB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106602 BioGRID:114375 KAT2B    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:110284 MAGEA11    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:114699 MED14    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:114878 MYOT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106602 BioGRID:121849 MYOZ1    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:115373 NR1H3    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:114572 PDLIM1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106602 BioGRID:111264 PHB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106602 BioGRID:111571 PKN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106602 BioGRID:111792 PYGB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106602 BioGRID:125567 SSX2IP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106602 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106602 BioGRID:112872 TERF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106602 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106602 BioGRID:112937 TJP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106602 BioGRID:113124 TTN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106602 BioGRID:113603 TUBA1A    BioGRID  PubMed Affinity Capture-Western; FRET 
    BioGRID:106602 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106602 BioGRID:113352 XRCC4    BioGRID  PubMed Two-hybrid 
    BioGRID:106602 BioGRID:113569 ZYX    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-extracellular matrix interactions, organism-specific biosystem (from REACTOME)
      Cell-extracellular matrix interactions, organism-specific biosystemCellâ??extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Nephrin interactions, organism-specific biosystem (from REACTOME)
      Nephrin interactions, organism-specific biosystemNephrin is a member of the Super-IgG-Molecule family and is most prominently expressed in kidney podocytes. It is a major if not the most important structural component of the slit diaphragm, a modif...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystem
      Regulation of Actin Cytoskeleton
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Regulation of cytoskeletal remodeling and cell spreading by IPP complex components, organism-specific biosystem (from REACTOME)
      Regulation of cytoskeletal remodeling and cell spreading by IPP complex components, organism-specific biosystemThe PINCHâ??ILKâ??Parvin complexes function in transducing diverse signals from ECM to intracellular effectors. Interacting partners for components of these complexes have been identified, a number...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by focal adhesion kinase, organism-specific biosystem
      Signaling events mediated by focal adhesion kinase
    • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
      Stabilization and expansion of the E-cadherin adherens junction
    • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-4-mediated signaling events, organism-specific biosystem
      Syndecan-4-mediated signaling events
    • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
      Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • Systemic lupus erythematosus, conserved biosystem (from KEGG)
      Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    integrin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    vinculin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    cell junction assembly TAS
    Traceable Author Statement
    more info
    		  
    focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of cellular component movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
    		  
    platelet degranulation TAS
    Traceable Author Statement
    more info
    		  
    regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cortical actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
    		  
    focal adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    pseudopodium TAS
    Traceable Author Statement
    more info
    		 PubMed 
    ruffle IEA
    Inferred from Electronic Annotation
    more info
    		  
    stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    alpha-actinin-1
    Names
    alpha-actinin-1
    actinin 1 smooth muscle
    non-muscle alpha-actinin-1
    F-actin cross-linking protein
    alpha-actinin cytoskeletal isoform
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029480.1 RefSeqGene

      Range
      5001..110244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001102.3 → NP_001093.1  alpha-actinin-1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC003576, BC004984, BI494856, DC321454
      Consensus CDS
      CCDS9792.1
      UniProtKB/Swiss-Prot
      P12814
      Related
      ENSP00000193403, OTTHUMP00000245940, ENST00000193403, OTTHUMT00000413233
      Conserved Domains (6) summary
      cd00014
      Location:145 – 249
      Blast Score: 230
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:750 – 817
      Blast Score: 140
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:395 – 622
      Blast Score: 265
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam08726
      Location:822 – 888
      Blast Score: 287
      efhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:758 – 816
      Blast Score: 98
      EF_hand_5; EF-hand domain pair
      cl02488
      Location:634 – 733
      Blast Score: 119
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    2. NM_001130004.1 → NP_001123476.1  alpha-actinin-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC004984, BI494856, DC372566, DQ496098
      Consensus CDS
      CCDS45130.1
      Related
      ENSP00000377941, OTTHUMP00000245941, ENST00000394419, OTTHUMT00000413234
      Conserved Domains (6) summary
      cd00014
      Location:145 – 249
      Blast Score: 231
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:750 – 839
      Blast Score: 116
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:395 – 622
      Blast Score: 268
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam08726
      Location:844 – 910
      Blast Score: 287
      efhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13833
      Location:789 – 841
      Blast Score: 90
      EF_hand_6; EF-hand domain pair
      cl02488
      Location:634 – 733
      Blast Score: 120
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    3. NM_001130005.1 → NP_001123477.1  alpha-actinin-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC003576, BC004984, BI494856, DC321454, EU716325
      Consensus CDS
      CCDS45129.1
      UniProtKB/Swiss-Prot
      P12814
      Related
      ENSP00000414272, OTTHUMP00000245942, ENST00000438964, OTTHUMT00000413236
      Conserved Domains (6) summary
      cd00014
      Location:145 – 249
      Blast Score: 230
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:750 – 812
      Blast Score: 134
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:395 – 622
      Blast Score: 264
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam08726
      Location:817 – 883
      Blast Score: 287
      efhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13833
      Location:762 – 814
      Blast Score: 90
      EF_hand_6; EF-hand domain pair
      cl02488
      Location:634 – 733
      Blast Score: 119
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      69340840..69446083, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      49510917..49616121, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL117694.5 (850..105766) None
    genomic CH471061.1 EAW80971.1
      EAW80972.1
      EAW80973.1
      EAW80974.1
      EAW80975.1
      EAW80976.1
    mRNA AJ844628.2 CAH59747.2
    mRNA AK098203.1 BAG53591.1
    mRNA AK124378.1 None
    mRNA AK225782.1 None
    mRNA AK294317.1 BAG57591.1
    mRNA AK295099.1 BAG58135.1
    mRNA AK298496.1 BAH12801.1
    mRNA AK299362.1 BAG61357.1
    mRNA BC003576.1 AAH03576.1
    mRNA BC004984.1 None
    mRNA BC015766.1 AAH15766.1
    mRNA BC127124.1 AAI27125.1
    mRNA BI494856.1 None
    mRNA BT007207.1 AAP35871.1
    mRNA BX248020.1 CAD62344.1
    mRNA BX641076.1 None
    mRNA DC321454.1 None
    mRNA DC372566.1 None
    mRNA DQ496098.1 ABF50047.1
    mRNA EU716325.1 ACE62922.1
    mRNA FJ410030.1 ACJ24535.1
    mRNA M95178.1 AAA51582.1
    mRNA X15804.1 CAA33803.1
    mRNA X55187.1 CAA38970.1
    other-genetic DQ890778.2 ABM81704.1
    other-genetic DQ895768.2 ABM86694.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12814.2 GenPept UniProtKB/Swiss-Prot:P12814
    Q5ZEZ4 GenPept UniProtKB/TrEMBL:Q5ZEZ4
    Q86TX4 GenPept UniProtKB/TrEMBL:Q86TX4
    Help top of page

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...