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    ACTN1 actinin alpha 1 [ Homo sapiens (human) ]

    Gene ID: 87, updated on 12-Jun-2018
    Official Symbol
    ACTN1provided by HGNC
    Official Full Name
    actinin alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:163
    See related
    Ensembl:ENSG00000072110 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
    BDPLT15
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 77.5), urinary bladder (RPKM 66.3) and 24 other tissues See more
    Orthologs
    See ACTN1 in Genome Data Viewer
    Location:
    14q24.1; 14q22-q24
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (68874123..68979366, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69340840..69446083, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mago homolog 3, pseudogene Neighboring gene basic leucine zipper nuclear factor 2 pseudogene Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 3 Neighboring gene HNF1 motif-containing MPRA enhancer 116 Neighboring gene barrier to autointegration factor 1 pseudogene 1 Neighboring gene ACTN1 antisense RNA 1 Neighboring gene ribosomal protein S29 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Platelet-type bleeding disorder 15
    MedGen: C3554663 OMIM: 615193 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    NHGRI GWA Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates ACTN1 in HeLa cells within 12 hours of exposure PubMed
    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 Interaction Database

    • 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, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • 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 biosystemCell-extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation an...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • 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...
    • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
      Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
    • 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 biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • 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 PINCH-ILK-Parvin complexes function in transducing diverse signals from ECM to intracellular effectors. Interacting partners for components of these complexes have been identified, a number of ...
    • 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 interactions, organism-specific biosystem (from REACTOME)
      Syndecan interactions, organism-specific biosystemSyndecans are type I transmembrane proteins, with an N-terminal ectodomain that contains several consensus sequences for glycosaminoglycan (GAG) attachment and a short C-terminal cytoplasmic domain. ...
    • 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 biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ40884, FLJ54432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nuclear receptor transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vinculin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vinculin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin crosslink formation IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament network formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    NOT platelet activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nucleic acid-templated transcription IEA
    Inferred from Electronic Annotation
    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
     
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion HDA PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    alpha-actinin-1
    Names
    F-actin cross-linking protein
    actinin 1 smooth muscle
    alpha-actinin cytoskeletal isoform
    non-muscle alpha-actinin-1

    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), LRG_886

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001093.1

      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
      UniProtKB/TrEMBL
      A0A024R694
      Related
      ENSP00000193403.6, OTTHUMP00000245940, ENST00000193403.10, OTTHUMT00000413233
      Conserved Domains (5) summary
      COG5069
      Location:29292
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:750817
      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:395622
      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; ...
      pfam00435
      Location:274384
      Spectrin; Spectrin repeat
      pfam08726
      Location:822888
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    2. NM_001130004.1NP_001123476.1  alpha-actinin-1 isoform a

      See identical proteins and their annotated locations for NP_001123476.1

      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
      UniProtKB/Swiss-Prot
      P12814
      Related
      ENSP00000377941.4, OTTHUMP00000245941, ENST00000394419.8, OTTHUMT00000413234
      Conserved Domains (5) summary
      COG5069
      Location:29292
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:750839
      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:395622
      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; ...
      pfam00435
      Location:274384
      Spectrin; Spectrin repeat
      pfam08726
      Location:844910
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    3. NM_001130005.1NP_001123477.1  alpha-actinin-1 isoform c

      See identical proteins and their annotated locations for NP_001123477.1

      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
      ENSP00000414272.2, OTTHUMP00000245942, ENST00000438964.6, OTTHUMT00000413236
      Conserved Domains (5) summary
      COG5069
      Location:29292
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      COG5126
      Location:743847
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00176
      Location:395622
      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; ...
      pfam00435
      Location:274384
      Spectrin; Spectrin repeat
      pfam08726
      Location:817883
      EFhand_Ca_insen; Ca2+ insensitive EF hand

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      68874123..68979366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021722.2XP_016877211.1  alpha-actinin-1 isoform X3

    2. XM_017021725.1XP_016877214.1  alpha-actinin-1 isoform X5

    3. XM_011537267.3XP_011535569.1  alpha-actinin-1 isoform X9

      Conserved Domains (7) summary
      smart00033
      Location:64162
      CH; Calponin homology domain
      cd00014
      Location:174278
      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:779846
      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:424651
      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; ...
      pfam00435
      Location:663762
      Spectrin; Spectrin repeat
      pfam08726
      Location:851917
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:781845
      EF-hand_7; EF-hand domain pair
    4. XM_011537265.2XP_011535567.1  alpha-actinin-1 isoform X7

      Conserved Domains (7) summary
      smart00033
      Location:64162
      CH; Calponin homology domain
      cd00014
      Location:174278
      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:787854
      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:424659
      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; ...
      pfam00435
      Location:303413
      Spectrin; Spectrin repeat
      pfam08726
      Location:859925
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:789853
      EF-hand_7; EF-hand domain pair
    5. XM_017021720.1XP_016877209.1  alpha-actinin-1 isoform X1

    6. XM_017021727.2XP_016877216.1  alpha-actinin-1 isoform X11

    7. XM_017021728.2XP_016877217.1  alpha-actinin-1 isoform X12

    8. XM_011537268.3XP_011535570.1  alpha-actinin-1 isoform X10

      Related
      ENSP00000366035.3, OTTHUMP00000245944, ENST00000376839.7
      Conserved Domains (7) summary
      smart00033
      Location:64162
      CH; Calponin homology domain
      cd00014
      Location:174278
      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:779841
      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:424651
      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; ...
      pfam00435
      Location:663762
      Spectrin; Spectrin repeat
      pfam08726
      Location:846912
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:781840
      EF-hand_7; EF-hand domain pair
    9. XM_011537266.3XP_011535568.1  alpha-actinin-1 isoform X8

      Conserved Domains (7) summary
      smart00033
      Location:64162
      CH; Calponin homology domain
      cd00014
      Location:174278
      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:787849
      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:424659
      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; ...
      pfam00435
      Location:303413
      Spectrin; Spectrin repeat
      pfam08726
      Location:854920
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:789848
      EF-hand_7; EF-hand domain pair
    10. XM_017021723.2XP_016877212.1  alpha-actinin-1 isoform X4

    11. XM_017021726.2XP_016877215.1  alpha-actinin-1 isoform X6

    12. XM_017021721.2XP_016877210.1  alpha-actinin-1 isoform X2

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