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ACTN1 actinin alpha 1 [ Homo sapiens (human) ]

Gene ID: 87, updated on 4-Oct-2020

Summary

Official Symbol
ACTN1provided by HGNC
Official Full Name
actinin alpha 1provided by HGNC
Primary source
HGNC:HGNC:163
See related
Ensembl:ENSG00000072110 MIM:102575
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BDPLT15
Summary
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 77.5), urinary bladder (RPKM 66.3) and 24 other tissues See more
Orthologs

Genomic context

See ACTN1 in Genome Data Viewer
Location:
14q24.1; 14q22-q24
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (68874123..68979302, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69340840..69446083, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mago homolog 3, pseudogene Neighboring gene basic leucine zipper nuclear factor 2, pseudogene Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 3 Neighboring gene HNF1 motif-containing MPRA enhancer 116 Neighboring gene BANF1 pseudogene 1 Neighboring gene ACTN1 antisense RNA 1 Neighboring gene ribosomal protein S29 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide and candidate gene association study of cigarette smoking behaviors.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
GeneReviews: Not available
Platelet-type bleeding disorder 15
MedGen: C3554663 OMIM: 615193 GeneReviews: Not available
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr upregulates ACTN1 in HeLa cells within 12 hours of exposure PubMed
retropepsin gag-pol Alpha-actinin is cleaved in vitro by HIV-1 protease at amino acid residues 166-167 and 471-472 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40884, FLJ54432

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of postsynapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
vinculin binding IDA
Inferred from Direct Assay
more info
PubMed 
vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin crosslink formation IEA
Inferred from Electronic Annotation
more info
 
actin filament bundle assembly IEA
Inferred from Electronic Annotation
more info
 
actin filament network formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cellular component movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT platelet activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
platelet formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with actin filament IDA
Inferred from Direct Assay
more info
PubMed 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell projection IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
pseudopodium TAS
Traceable Author Statement
more info
PubMed 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alpha-actinin-1
Names
F-actin cross-linking protein
actinin 1 smooth muscle
epididymis secretory sperm binding protein
non-muscle alpha-actinin-1

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.

Genomic

  1. NG_029480.1 RefSeqGene

    Range
    5001..110244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_886

mRNA and Protein(s)

  1. NM_001102.4NP_001093.1  alpha-actinin-1 isoform b

    See identical proteins and their annotated locations for NP_001093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC003576, BC004984, BI494856, DC321454
    Consensus CDS
    CCDS9792.1
    UniProtKB/Swiss-Prot
    P12814
    UniProtKB/TrEMBL
    A0A024R694
    Related
    ENSP00000193403.6, ENST00000193403.10
    Conserved Domains (5) summary
    COG5069
    Location:29292
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    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; ...
    pfam08726
    Location:822888
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:634732
    Spectrin; Spectrin repeat
  2. NM_001130004.2NP_001123476.1  alpha-actinin-1 isoform a

    See identical proteins and their annotated locations for NP_001123476.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC004984, BI494856, DC372566, DQ496098
    Consensus CDS
    CCDS45130.1
    UniProtKB/Swiss-Prot
    P12814
    Related
    ENSP00000377941.4, ENST00000394419.8
    Conserved Domains (5) summary
    COG5069
    Location:29292
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    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:274384
    Spectrin; Spectrin repeat
    pfam08726
    Location:844910
    EFhand_Ca_insen; Ca2+ insensitive EF hand
  3. NM_001130005.2NP_001123477.1  alpha-actinin-1 isoform c

    See identical proteins and their annotated locations for NP_001123477.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC003576, BC004984, BI494856, DC321454, EU716325
    Consensus CDS
    CCDS45129.1
    UniProtKB/Swiss-Prot
    P12814
    Related
    ENSP00000414272.2, ENST00000438964.6
    Conserved Domains (5) summary
    COG5069
    Location:29292
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    COG5126
    Location:743847
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    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; ...
    pfam08726
    Location:817883
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:634732
    Spectrin; Spectrin repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    68874123..68979302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021722.2XP_016877211.1  alpha-actinin-1 isoform X3

  2. XM_017021725.1XP_016877214.1  alpha-actinin-1 isoform X5

  3. XM_011537267.3XP_011535569.1  alpha-actinin-1 isoform X9

    Conserved Domains (7) summary
    smart00033
    Location:64162
    CH; Calponin homology domain
    cd00014
    Location:174278
    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:779846
    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:424651
    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:663762
    Spectrin; Spectrin repeat
    pfam08726
    Location:851917
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:781845
    EF-hand_7; EF-hand domain pair
  4. XM_011537265.2XP_011535567.1  alpha-actinin-1 isoform X7

    Conserved Domains (7) summary
    smart00033
    Location:64162
    CH; Calponin homology domain
    cd00014
    Location:174278
    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:787854
    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:424659
    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:303413
    Spectrin; Spectrin repeat
    pfam08726
    Location:859925
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:789853
    EF-hand_7; EF-hand domain pair
  5. XM_017021720.1XP_016877209.1  alpha-actinin-1 isoform X1

  6. XM_017021727.2XP_016877216.1  alpha-actinin-1 isoform X11

  7. XM_017021728.2XP_016877217.1  alpha-actinin-1 isoform X12

  8. XM_011537268.3XP_011535570.1  alpha-actinin-1 isoform X10

    Conserved Domains (7) summary
    smart00033
    Location:64162
    CH; Calponin homology domain
    cd00014
    Location:174278
    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:779841
    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:424651
    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:663762
    Spectrin; Spectrin repeat
    pfam08726
    Location:846912
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:781840
    EF-hand_7; EF-hand domain pair
  9. XM_011537266.3XP_011535568.1  alpha-actinin-1 isoform X8

    Conserved Domains (7) summary
    smart00033
    Location:64162
    CH; Calponin homology domain
    cd00014
    Location:174278
    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:787849
    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:424659
    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:303413
    Spectrin; Spectrin repeat
    pfam08726
    Location:854920
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:789848
    EF-hand_7; EF-hand domain pair
  10. XM_017021723.2XP_016877212.1  alpha-actinin-1 isoform X4

  11. XM_017021726.2XP_016877215.1  alpha-actinin-1 isoform X6

  12. XM_017021721.2XP_016877210.1  alpha-actinin-1 isoform X2

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