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    ACTN1 actinin alpha 1 [ Homo sapiens (human) ]

    Gene ID: 87, updated on 6-Sep-2021

    Summary

    Official Symbol
    ACTN1provided by HGNC
    Official Full Name
    actinin alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:163
    See related
    Ensembl:ENSG00000072110 MIM:102575
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACTN1 in Genome Data Viewer
    Location:
    14q24.1; 14q22-q24
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (68874123..68979302, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69340845..69446019, 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 BANF1 pseudogene 1 Neighboring gene ACTN1 divergent transcript Neighboring gene ribosomal protein S29 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    GeneReviews: Not available
    Genome-wide association study of chronic periodontitis in a general German population.
    GeneReviews: Not available
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    GeneReviews: Not available
    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.
    GeneReviews: Not available
    Platelet-type bleeding disorder 15
    MedGen: C3554663 OMIM: 615193 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ40884, FLJ54432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables vinculin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables vinculin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament network formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of cellular component movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in platelet activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in pseudopodium TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-actinin-1
    Names
    F-actin cross-linking protein
    actinin 1 smooth muscle
    epididymis secretory sperm binding protein
    non-muscle alpha-actinin-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001102.4NP_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, ENST00000193403.10
      Conserved Domains (6) summary
      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:634733
      Spectrin; Spectrin repeat
      pfam08726
      Location:822888
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21214
      Location:28132
      CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
      cd21216
      Location:136250
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
    2. NM_001130004.2NP_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, ENST00000394419.9
      Conserved Domains (6) summary
      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:634733
      Spectrin; Spectrin repeat
      pfam08726
      Location:844910
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21214
      Location:28132
      CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
      cd21216
      Location:136250
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
    3. NM_001130005.2NP_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, ENST00000438964.6
      Conserved Domains (6) summary
      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:634733
      Spectrin; Spectrin repeat
      pfam08726
      Location:817883
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21214
      Location:28132
      CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
      cd21216
      Location:136250
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      68874123..68979302 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

      Related
      ENSP00000508177.1, ENST00000684182.1
      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

      Related
      ENSP00000504355.1, ENST00000679147.1
    7. XM_017021728.2XP_016877217.1  alpha-actinin-1 isoform X12

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

      Related
      ENSP00000506977.1, ENST00000683225.1
      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

      Related
      ENST00000684146.1
    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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