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

Summary

Official Symbol: Actn4provided by MGI
Official Full Name: actinin alpha 4provided by MGI
Primary source: MGI:MGI:1890773
See related: Ensembl:ENSMUSG00000054808 AllianceGenome:MGI:1890773
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
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, Apr 2022]
Expression: Ubiquitous expression in small intestine adult (RPKM 213.0), large intestine adult (RPKM 207.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 16.94 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mesenchymal beta-catenin signaling affects palatogenesis by regulating alpha-actinin-4 and F-actin.
Title: Mesenchymal β-catenin signaling affects palatogenesis by regulating α-actinin-4 and F-actin.
Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.
Title: Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.
alpha-Actinin-4 recruits Shp2 into focal adhesions to potentiate ROCK2 activation in podocytes.
Title: α-Actinin-4 recruits Shp2 into focal adhesions to potentiate ROCK2 activation in podocytes.
Angiopoietin-like protein 4 promotes hyperlipidemia-induced renal injury by down-regulating the expression of ACTN4.
Title: Angiopoietin-like protein 4 promotes hyperlipidemia-induced renal injury by down-regulating the expression of ACTN4.
Phosphorylation of ACTN4 Leads to Podocyte Vulnerability and Proteinuric Glomerulosclerosis.
Title: Phosphorylation of ACTN4 Leads to Podocyte Vulnerability and Proteinuric Glomerulosclerosis.
Transgenic mice that express actinin-4 K256E in podocytes develop podocyte injury, proteinuria, and FSGS in association with glomerular ER stress
Title: Proteostasis as a therapeutic target in glomerular injury associated with mutant α-actinin-4.
Focal segmental glomerulosclerosis Actn4 mutation promotes podocyte detachment through maladaptation to periodic stretch.
Title: Disease-causing mutation in α-actinin-4 promotes podocyte detachment through maladaptation to periodic stretch.
ACTN4 is a transcriptional coactivator of NF-kappaB.
Title: α-Actinin 4 potentiates nuclear factor κ-light-chain-enhancer of activated B-cell (NF-κB) activity in podocytes independent of its cytoplasmic actin binding function.
UCHL1 upregulation in ACTN4-associated FSGS.
Title: Ubiquitin C-terminal hydrolase L1 deletion ameliorates glomerular injury in mice with ACTN4-associated focal segmental glomerulosclerosis.
sLZIP negatively regulates skeletal muscle differentiation via interaction with ACTN4.
Title: Small leucine zipper protein (sLZIP) negatively regulates skeletal muscle differentiation via interaction with α-actinin-4.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC343810P2 (e-PCR)
- UniSTS:273193

RH126173 (e-PCR)
- UniSTS:162883

MARC_12245-12246:1008698037:1 (e-PCR)
- UniSTS:267380

MARC_12245-12246:1043934929:1 (e-PCR)
- UniSTS:267380

Actn4 (e-PCR), detects polymorphism
- UniSTS:228477

C77391 (e-PCR)
- UniSTS:159617

Actn4 (e-PCR), detects polymorphism
- UniSTS:527240

Actn4 (e-PCR), detects polymorphism
- UniSTS:499169

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
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 nuclear retinoic acid receptor binding	ISO Inferred from Sequence Orthology more info
enables nucleoside 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 structural constituent of cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase 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
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
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glomerulus development	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle cell development	IBA Inferred from Biological aspect of Ancestor more info
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 podocyte cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of pinocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
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 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
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
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
located_in cortical actin cytoskeleton	IDA Inferred from Direct Assay 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 focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	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
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
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

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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)

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

Status: VALIDATED

Source sequence(s)

AC166357

UniProtKB/TrEMBL

Q3UDJ7

Conserved Domains (5) summary

COG5069
Location:49 → 312

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:415 → 641

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:294 → 404

Spectrin; Spectrin repeat

pfam08726
Location:842 → 908

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl25352
Location:760 → 869

EFh_PEF; The penta-EF hand (PEF) family
NM_001360549.2 → NP_001347478.1 alpha-actinin-4 isoform 3

Status: VALIDATED

Source sequence(s)

AC166357

UniProtKB/TrEMBL

Q3UDJ7

Conserved Domains (5) summary

COG5069
Location:49 → 312

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

COG5126
Location:763 → 867

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00176
Location:415 → 641

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:294 → 404

Spectrin; Spectrin repeat

pfam08726
Location:837 → 903

EFhand_Ca_insen; Ca2+ insensitive EF hand
NM_001360550.2 → NP_001347479.1 alpha-actinin-4 isoform 4

Status: VALIDATED

Source sequence(s)

AC166357

Conserved Domains (4) summary

COG5126
Location:505 → 609

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00176
Location:157 → 383

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:579 → 645

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl00030
Location:1 → 21

CH_SF; calponin homology (CH) domain superfamily
NM_001420183.1 → NP_001407112.1 alpha-actinin-4 isoform 5

Status: VALIDATED

Source sequence(s)

AC166357
NM_001420184.1 → NP_001407113.1 alpha-actinin-4 isoform 6

Status: VALIDATED

Source sequence(s)

AC166357
NM_001420185.1 → NP_001407114.1 alpha-actinin-4 isoform 3

Status: VALIDATED

Source sequence(s)

AC166357
NM_001420186.1 → NP_001407115.1 alpha-actinin-4 isoform 7

Status: VALIDATED

Source sequence(s)

AC166357
NM_001420187.1 → NP_001407116.1 alpha-actinin-4 isoform 8

Status: VALIDATED

Source sequence(s)

AC166357
NM_001420188.1 → NP_001407117.1 alpha-actinin-4 isoform 9

Status: VALIDATED

Source sequence(s)

AC166357
NM_001420189.1 → NP_001407118.1 alpha-actinin-4 isoform 10

Status: VALIDATED

Source sequence(s)

AC166357
NM_021895.4 → NP_068695.1 alpha-actinin-4 isoform 1

See identical proteins and their annotated locations for NP_068695.1

Status: VALIDATED

Source sequence(s)

AC166357

Consensus CDS

CCDS21061.1

UniProtKB/Swiss-Prot

P57780

UniProtKB/TrEMBL

Q3UDJ7, Q3ULT2

Related

ENSMUSP00000066068.8, ENSMUST00000068045.14

Conserved Domains (5) summary

PTZ00184
Location:760 → 869

PTZ00184; calmodulin; Provisional

cd00176
Location:415 → 641

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:842 → 908

EFhand_Ca_insen; Ca2+ insensitive EF hand

cd21214
Location:48 → 152

CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family

cd21216
Location:156 → 270

CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

28592673..28661799 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540257.4 → XP_006540320.1 alpha-actinin-4 isoform X4

UniProtKB/TrEMBL

A0A1L1SV25

Related

ENSMUSP00000151028.2, ENSMUST00000217157.2

Conserved Domains (5) summary

COG5069
Location:49 → 312

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

COG5126
Location:763 → 894

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00176
Location:415 → 641

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:864 → 930

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:294 → 403

Spectrin; Spectrin repeat
XM_036153312.1 → XP_036009205.1 alpha-actinin-4 isoform X3

Conserved Domains (4) summary

COG5126
Location:505 → 609

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00176
Location:157 → 383

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:579 → 645

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl00030
Location:1 → 21

CH_SF; calponin homology (CH) domain superfamily
XM_036153311.1 → XP_036009204.1 alpha-actinin-4 isoform X2

Conserved Domains (4) summary

PTZ00184
Location:502 → 611

PTZ00184; calmodulin; Provisional

cd00176
Location:157 → 383

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:584 → 650

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl00030
Location:1 → 21

CH_SF; calponin homology (CH) domain superfamily