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

Summary

Official Symbol: Actn1provided by MGI
Official Full Name: actinin, alpha 1provided by MGI
Primary source: MGI:MGI:2137706
See related: Ensembl:ENSMUSG00000015143 AllianceGenome:MGI:2137706
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; heart ventricle; 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 2024]
Expression: Broad expression in bladder adult (RPKM 126.9), ovary adult (RPKM 50.7) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C3; 12 36.49 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 12 - NC_000078.7 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 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?

Truncation of CXCL8 to CXCL8(9-77) enhances actin polymerization and in vivo migration of neutrophils.
Title: Truncation of CXCL8 to CXCL8(9-77) enhances actin polymerization and in vivo migration of neutrophils.
The data point to a surprising scenario where local assembly and biased polymerization generate the slow axonal transport of actin without involvement of microtubules (MTs) or MT-based motors.
Title: Processive flow by biased polymerization mediates the slow axonal transport of actin.
NIK is an essential post-transcriptional regulator of T-cell activation affecting F-actin dynamics and TCR signaling.
Title: NF-κB inducing kinase (NIK) is an essential post-transcriptional regulator of T-cell activation affecting F-actin dynamics and TCR signaling.
It is shown that TNF-alpha signaling regulates the phosphorylation of serine-5 and -7 in L-plastin which increases the actin bundling capacity of L-plastin and hence the formation of nascent sealing zones in mouse osteoclasts.
Title: L-plastin phosphorylation regulates the early phase of sealing ring formation by actin bundling process in mouse osteoclasts.
The data suggested that Daam1 affected actin assembly during oocyte meiotic division via the regulation of fascin expression.
Title: Daam1 regulates fascin for actin assembly in mouse oocyte meiosis.
Interactions with phosphatidylinositol 4,5-bisphosphate decrease the actin polymerizing activity of Ig domain 3 of palladin (Palld-Ig3).
Title: Phosphoinositide Binding Inhibits Actin Crosslinking and Polymerization by Palladin.
Furthermore, this F-actin mesh network attached to the synaptic ribbons directly influences the efficiency of otoferlin-dependent exocytosis and its sensitivity to intracellular hydrostatic pressure.
Title: A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells.
These findings evidence alpha-actinin involvement in sarcomeric development, suggesting for this protein an important role in stabilizing the muscle contractile apparatus.
Title: α-Actinin involvement in Z-disk assembly during skeletal muscle C2C12 cells in vitro differentiation.
The C-terminal polybasic region of CYTH2 participates in interacting directly with the EFh2 domain of ACTN1.
Title: Arf6 guanine-nucleotide exchange factor, cytohesin-2, interacts with actinin-1 to regulate neurite extension.
Actn1 differential methylation occurs in diverse mouse tissues. Authors have found no indication of an imprinted effect on gene expression of Actn1 in mice.
Title: Intronic parent-of-origin dependent differential methylation at the Actn1 gene is conserved in rodents but is not associated with imprinted expression.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125310 (e-PCR)
- UniSTS:162132

NoName (e-PCR)
- UniSTS:236891

Actn1 (e-PCR), detects polymorphism
- UniSTS:228474

C77473 (e-PCR)
- UniSTS:208829

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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 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 nuclear receptor coactivator activity	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	IEA Inferred from Electronic Annotation more info
enables structural constituent of postsynapse	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation 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
involved_in actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament network formation	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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
involved_in platelet formation	IEA Inferred from Electronic Annotation more info
involved_in platelet formation	ISO Inferred from Sequence Orthology more info
involved_in platelet morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in postsynapse organization	IEA Inferred from Electronic Annotation 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
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in actin filament	IEA Inferred from Electronic Annotation 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
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
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
located_in 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
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
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
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

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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)

NM_001346669.2 → NP_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
NM_001379075.1 → NP_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:750 → 839

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:395 → 622

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:634 → 733

Spectrin; Spectrin repeat

pfam08726
Location:844 → 910

EFhand_Ca_insen; Ca2+ insensitive EF hand

cd21214
Location:28 → 132

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

cd21216
Location:136 → 250

CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
NM_001379076.1 → NP_001366005.1 alpha-actinin-1 isoform 4

Status: VALIDATED

Source sequence(s)

AC108401, CT030161

Conserved Domains (6) summary

cd00051
Location:685 → 752

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:330 → 557

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:569 → 668

Spectrin; Spectrin repeat

pfam08726
Location:757 → 823

EFhand_Ca_insen; Ca2+ insensitive EF hand

cd21216
Location:71 → 185

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

cl00030
Location:1 → 67

CH_SF; calponin homology (CH) domain superfamily
NM_134156.3 → NP_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:145 → 249

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:750 → 817

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:395 → 622

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:32 → 130

CH; Calponin homology (CH) domain

pfam00435
Location:634 → 733

Spectrin; Spectrin repeat

pfam08726
Location:822 → 888

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:752 → 816

EF-hand_7; EF-hand domain pair

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_000078.7 Reference GRCm39 C57BL/6J

Range

80214316..80307165 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (4) summary

cd00051
Location:507 → 596

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:152 → 379

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:601 → 667

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:391 → 489

Spectrin; Spectrin repeat
XM_036157161.1 → XP_036013054.1 alpha-actinin-1 isoform X3

Conserved Domains (4) summary

cd00051
Location:475 → 564

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:120 → 347

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:359 → 458

Spectrin; Spectrin repeat

pfam08726
Location:569 → 635

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_036157160.1 → XP_036013053.1 alpha-actinin-1 isoform X1

Conserved Domains (6) summary

cd00051
Location:685 → 774

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:330 → 557

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:569 → 668

Spectrin; Spectrin repeat

pfam08726
Location:779 → 845

EFhand_Ca_insen; Ca2+ insensitive EF hand

cd21216
Location:71 → 185

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

cl00030
Location:1 → 67

CH_SF; calponin homology (CH) domain superfamily
XM_006515389.3 → XP_006515452.1 alpha-actinin-1 isoform X1

Conserved Domains (6) summary

cd00051
Location:685 → 774

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:330 → 557

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:569 → 668

Spectrin; Spectrin repeat

pfam08726
Location:779 → 845

EFhand_Ca_insen; Ca2+ insensitive EF hand

cd21216
Location:71 → 185

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

cl00030
Location:1 → 67

CH_SF; calponin homology (CH) domain superfamily