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    Actn1 actinin, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 109711, updated on 22-Aug-2021

    Summary

    Official Symbol
    Actn1provided by MGI
    Official Full Name
    actinin, alpha 1provided by MGI
    Primary source
    MGI:MGI:2137706
    See related
    Ensembl:ENSMUSG00000015143
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Actn1a; 3110023F10Rik
    Expression
    Broad expression in bladder adult (RPKM 126.9), ovary adult (RPKM 50.7) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Actn1 in Genome Data Viewer
    Location:
    12 C3; 12 36.49 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (80214316..80307165, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (80167542..80260420, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (81268529..81361358, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2310015A10 gene Neighboring gene zinc finger protein 36, C3H type-like 1 Neighboring gene predicted gene, 29952 Neighboring gene DDB1 and CUL4 associated factor 5 Neighboring gene microRNA 1843a Neighboring gene small Cajal body-specific RNA 3B

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 actin filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytoskeletal regulatory protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nuclear receptor coactivator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables structural constituent of postsynapse ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables vinculin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables vinculin binding ISO
    Inferred from Sequence Orthology
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament network formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in actin filament organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cortical cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of cellular component movement ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in platelet formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in platelet morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    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 
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with cortical actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cortical cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dense core granule membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in fascia adherens IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in focal adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule NAS
    Non-traceable Author Statement
    more info
    PubMed 
    colocalizes_with stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with stress fiber ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stress fiber ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stress fiber TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-actinin-1
    Names
    F-actin cross-linking protein
    alpha actinin 1a
    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.

    mRNA and Protein(s)

    1. NM_001346669.2NP_001333598.1  alpha-actinin-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108401, CT030161
      Consensus CDS
      CCDS83972.1
      UniProtKB/TrEMBL
      A1BN54
      Related
      ENSMUSP00000127176.2, ENSMUST00000167327.2
    2. NM_001379075.1NP_001366004.1  alpha-actinin-1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC108401, CT030161
      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_001379076.1NP_001366005.1  alpha-actinin-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC108401, CT030161
      Conserved Domains (6) summary
      cd00051
      Location:685752
      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:330557
      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:569668
      Spectrin; Spectrin repeat
      pfam08726
      Location:757823
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21216
      Location:71185
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
      cl00030
      Location:167
      CH_SF; calponin homology (CH) domain superfamily
    4. NM_134156.3NP_598917.1  alpha-actinin-1 isoform 1

      See identical proteins and their annotated locations for NP_598917.1

      Status: VALIDATED

      Source sequence(s)
      AC108401, CT030161
      Consensus CDS
      CCDS26011.1
      UniProtKB/Swiss-Prot
      Q7TPR4
      Related
      ENSMUSP00000021554.9, ENSMUST00000021554.16
      Conserved Domains (7) summary
      cd00014
      Location:145249
      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: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; ...
      pfam00307
      Location:32130
      CH; Calponin homology (CH) domain
      pfam00435
      Location:634733
      Spectrin; Spectrin repeat
      pfam08726
      Location:822888
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:752816
      EF-hand_7; EF-hand domain pair

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      80214316..80307165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246514.2XP_030102374.1  alpha-actinin-1 isoform X2

      Conserved Domains (4) summary
      cd00051
      Location:507596
      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:152379
      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:601667
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam00435
      Location:391489
      Spectrin; Spectrin repeat
    2. XM_036157161.1XP_036013054.1  alpha-actinin-1 isoform X3

      Conserved Domains (4) summary
      cd00051
      Location:475564
      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:120347
      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:359458
      Spectrin; Spectrin repeat
      pfam08726
      Location:569635
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    3. XM_036157160.1XP_036013053.1  alpha-actinin-1 isoform X1

      Conserved Domains (6) summary
      cd00051
      Location:685774
      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:330557
      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:569668
      Spectrin; Spectrin repeat
      pfam08726
      Location:779845
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21216
      Location:71185
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
      cl00030
      Location:167
      CH_SF; calponin homology (CH) domain superfamily
    4. XM_006515389.3XP_006515452.1  alpha-actinin-1 isoform X1

      Conserved Domains (6) summary
      cd00051
      Location:685774
      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:330557
      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:569668
      Spectrin; Spectrin repeat
      pfam08726
      Location:779845
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21216
      Location:71185
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
      cl00030
      Location:167
      CH_SF; calponin homology (CH) domain superfamily
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