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Actn4 actinin alpha 4 [ Mus musculus (house mouse) ]

Gene ID: 60595, updated on 10-Sep-2019

Summary

Official Symbol
Actn4provided by MGI
Official Full Name
actinin alpha 4provided by MGI
Primary source
MGI:MGI:1890773
See related
Ensembl:ENSMUSG00000054808
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
C77391
Expression
Ubiquitous expression in small intestine adult (RPKM 213.0), large intestine adult (RPKM 207.4) and 28 other tissues See more
Orthologs

Genomic context

See Actn4 in Genome Data Viewer
Location:
7; 7 B1
Exon count:
23
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (28893248..28962351, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (29678273..29747299, complement)

Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene predicted gene 10648 Neighboring gene uncharacterized LOC115486456 Neighboring gene calpain 12 Neighboring gene predicted gene, 38978 Neighboring gene uncharacterized LOC115486457 Neighboring gene eukaryotic translation initiation factor 3, subunit K Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1

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)

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...
  • 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 biosystemcomputationally inferred pathway (not manually curated)
  • 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...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • PodNet: protein-protein interactions in the podocyte, organism-specific biosystem (from WikiPathways)
    PodNet: protein-protein interactions in the podocyte, organism-specific biosystemPodNet is a manually curated network of protein-protein interactions occurring in the podocyte.
  • 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
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystem
    Striated Muscle Contraction
  • 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...
  • XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystem (from WikiPathways)
    XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystemXPodNet is a larger version of PodNet. Interactions from STRING database have been added to PodNet to build XPodNet. Hence, not all interactions found in XPodNet do necessarily have to be curated.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC102374

Gene Ontology Provided by MGI

Function Evidence Code Pubs
RNA polymerase II regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding ISO
Inferred from Sequence Orthology
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
chromatin DNA binding ISO
Inferred from Sequence Orthology
more info
 
ion channel binding ISO
Inferred from Sequence Orthology
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nuclear hormone receptor binding ISO
Inferred from Sequence Orthology
more info
 
nuclear receptor transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
nucleoside binding ISO
Inferred from Sequence Orthology
more info
 
protein N-terminus binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
retinoic acid receptor binding ISO
Inferred from Sequence Orthology
more info
 
transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cellular component movement IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of substrate adhesion-dependent cell spreading ISO
Inferred from Sequence Orthology
more info
 
peroxisome proliferator activated receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of NIK/NF-kappaB signaling ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cellular component movement IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cellular component movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cellular component movement ISO
Inferred from Sequence Orthology
more info
 
positive regulation of pinocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to bicellular tight junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
regulation of nucleic acid-templated transcription ISO
Inferred from Sequence Orthology
more info
 
retinoic acid receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
tumor necrosis factor-mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
vesicle transport along actin filament ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cortical cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol ISO
Inferred from Sequence Orthology
more info
 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
nuclear body ISO
Inferred from Sequence Orthology
more info
 
nucleus ISO
Inferred from Sequence Orthology
more info
 
perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
pseudopodium IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex ISO
Inferred from Sequence Orthology
more info
 
stress fiber IDA
Inferred from Direct Assay
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
 

General protein information

Preferred Names
alpha-actinin-4
Names
F-actin cross-linking protein
non-muscle alpha-actinin 4

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.

mRNA and Protein(s)

  1. NM_001360548.1NP_001347477.1  alpha-actinin-4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon and contains another alternate internal exon compared to variant 1. The resulting isoform (2) has the same length as isoform 1 but differs at two amino acid positions.
    Source sequence(s)
    AC166357
    Conserved Domains (5) summary
    COG5069
    Location:49312
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:415641
    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:294404
    Spectrin; Spectrin repeat
    pfam08726
    Location:842908
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl25352
    Location:760869
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_001360549.1NP_001347478.1  alpha-actinin-4 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC166357
    Conserved Domains (5) summary
    COG5069
    Location:49312
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    COG5126
    Location:763867
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00176
    Location:415641
    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:294404
    Spectrin; Spectrin repeat
    pfam08726
    Location:837903
    EFhand_Ca_insen; Ca2+ insensitive EF hand
  3. NM_001360550.1NP_001347479.1  alpha-actinin-4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC166357
    Conserved Domains (3) summary
    COG5126
    Location:505609
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00176
    Location:157383
    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:579645
    EFhand_Ca_insen; Ca2+ insensitive EF hand
  4. NM_021895.3NP_068695.1  alpha-actinin-4 isoform 1

    See identical proteins and their annotated locations for NP_068695.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI845456, AK145322
    Consensus CDS
    CCDS21061.1
    UniProtKB/Swiss-Prot
    P57780
    UniProtKB/TrEMBL
    Q3ULT2
    Related
    ENSMUSP00000066068.7, ENSMUST00000068045.13
    Conserved Domains (6) summary
    cd00014
    Location:165269
    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:770837
    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:415641
    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:52150
    CH; Calponin homology (CH) domain
    pfam08726
    Location:842908
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:772836
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000073.6 Reference GRCm38.p6 C57BL/6J

    Range
    28893248..28962351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540255.4XP_006540318.1  alpha-actinin-4 isoform X1

    Conserved Domains (6) summary
    cd00014
    Location:165269
    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:770832
    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:415641
    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:52150
    CH; Calponin homology (CH) domain
    pfam08726
    Location:837903
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:772831
    EF-hand_7; EF-hand domain pair
  2. XM_006540257.3XP_006540320.1  alpha-actinin-4 isoform X2

    Related
    ENSMUSP00000151028.1, ENSMUST00000217157.1
    Conserved Domains (5) summary
    cd00014
    Location:165269
    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:770859
    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:415641
    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:52150
    CH; Calponin homology (CH) domain
    pfam08726
    Location:864930
    EFhand_Ca_insen; Ca2+ insensitive EF hand
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