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

Gene ID: 109711, updated on 5-Jan-2022

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
Summary
Enables cytoskeletal protein binding activity; integrin binding activity; and protein homodimerization activity. Involved in actin filament bundle assembly. Located in several cellular components, including Z disc; fascia adherens; and ruffle. Colocalizes with stress fiber. Is expressed in brain; heart; and testis. Human ortholog(s) of this gene implicated in platelet-type bleeding disorder 15. Orthologous to human ACTN1 (actinin alpha 1). [provided by Alliance of Genome Resources, Nov 2021]
Expression
Broad expression in bladder adult (RPKM 126.9), ovary adult (RPKM 50.7) and 22 other tissues See more
Orthologs
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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)

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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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