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

Gene ID: 60595, updated on 5-Jan-2022

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
Summary
Enables actin filament binding activity. Involved in several processes, including bicellular tight junction assembly; positive regulation of pinocytosis; and protein localization to bicellular tight junction. Located in several cellular components, including Z disc; cytoskeleton; and pseudopodium. Is expressed in early conceptus and heart. Used to study focal segmental glomerulosclerosis 1. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 1. Orthologous to human ACTN4 (actinin alpha 4). [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in small intestine adult (RPKM 213.0), large intestine adult (RPKM 207.4) and 28 other tissues See more
Orthologs
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Genomic context

See Actn4 in Genome Data Viewer
Location:
7; 7 B1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (28592673..28661799, complement)
108.20200622 previous assembly 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_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene 10648 Neighboring gene calpain 12 Neighboring gene predicted gene 44700 Neighboring gene predicted gene, 38978 Neighboring gene predicted gene, 51446 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 PubChem

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
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
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 chromatin DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nuclear receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables nuclear receptor coactivator activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleoside binding ISO
Inferred from Sequence Orthology
more info
 
enables protein N-terminus binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables retinoic acid receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane transporter 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 bicellular tight junction 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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of substrate adhesion-dependent cell spreading ISO
Inferred from Sequence Orthology
more info
 
involved_in peroxisome proliferator activated receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of NIK/NF-kappaB signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cellular component movement IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cellular component movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cellular component movement ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of pinocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to bicellular tight junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of nucleic acid-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in retinoic acid receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in tumor necrosis factor-mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in vesicle transport along actin filament 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 
colocalizes_with actin cytoskeleton ISO
Inferred from Sequence Orthology
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-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 cortical cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in pseudopodium IDA
Inferred from Direct Assay
more info
PubMed 
part_of ribonucleoprotein complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with stress fiber IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_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 (4) 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
    cl00030
    Location:121
    CH_SF; calponin homology (CH) domain superfamily
  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
    ENSMUSP00000066068.8, ENSMUST00000068045.14
    Conserved Domains (5) summary
    PTZ00184
    Location:760869
    PTZ00184; calmodulin; Provisional
    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; ...
    pfam08726
    Location:842908
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cd21214
    Location:48152
    CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
    cd21216
    Location:156270
    CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    28592673..28661799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540255.5XP_006540318.1  alpha-actinin-4 isoform X1

    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; ...
    pfam08726
    Location:837903
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:294403
    Spectrin; Spectrin repeat
  2. XM_006540257.4XP_006540320.1  alpha-actinin-4 isoform X4

    Related
    ENSMUSP00000151028.2, ENSMUST00000217157.2
    Conserved Domains (5) summary
    COG5069
    Location:49312
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    COG5126
    Location:763894
    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; ...
    pfam08726
    Location:864930
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:294403
    Spectrin; Spectrin repeat
  3. XM_036153312.1XP_036009205.1  alpha-actinin-4 isoform X3

    Conserved Domains (4) 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
    cl00030
    Location:121
    CH_SF; calponin homology (CH) domain superfamily
  4. XM_036153311.1XP_036009204.1  alpha-actinin-4 isoform X2

    Conserved Domains (4) summary
    PTZ00184
    Location:502611
    PTZ00184; calmodulin; Provisional
    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:584650
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl00030
    Location:121
    CH_SF; calponin homology (CH) domain superfamily

RNA

  1. XR_004934159.1 RNA Sequence

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