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Aliases for ACTN1 Gene

Aliases for ACTN1 Gene

  • Actinin Alpha 1 2 3 5
  • Alpha-Actinin Cytoskeletal Isoform 3 4
  • F-Actin Cross-Linking Protein 3 4
  • Non-Muscle Alpha-Actinin-1 3 4
  • Actinin 1 Smooth Muscle 3
  • Alpha-Actinin-1 3
  • BDPLT15 3

External Ids for ACTN1 Gene

Previous GeneCards Identifiers for ACTN1 Gene

  • GC14M066846
  • GC14M063137
  • GC14M067330
  • GC14M067331
  • GC14M068410
  • GC14M069341
  • GC14M049510

Summaries for ACTN1 Gene

Entrez Gene Summary for ACTN1 Gene

  • 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]

GeneCards Summary for ACTN1 Gene

ACTN1 (Actinin Alpha 1) is a Protein Coding gene. Diseases associated with ACTN1 include Bleeding Disorder, Platelet-Type, 15 and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are Tight junction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot for ACTN1 Gene

  • F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Gene Wiki entry for ACTN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTN1 Gene

Genomics for ACTN1 Gene

Regulatory Elements for ACTN1 Gene

Enhancers for ACTN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F068931 1.8 FANTOM5 Ensembl ENCODE 19.7 +33.7 33740 29.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ERH ACTN1 RPL7AP6 CCDC177 ZFP36L1 DCAF5 GALNT16 GC14P068937
GH14F069691 1.7 FANTOM5 Ensembl ENCODE 16 -718.6 -718585 12.4 HDGF PKNOX1 CREB3L1 MLX ARID4B DMAP1 SLC30A9 KLF13 SP5 MXD4 SUSD6 SRSF5 HMGN1P3 ACTN1 RPL7AP6 TTC9 SLC8A3 PIR54293 GC14P069678
GH14F069041 1.4 FANTOM5 Ensembl ENCODE 11.2 -68.2 -68245 11.8 FEZF1 RAD21 RFX5 YY1 ZNF335 FOS CEBPB REST NR2F2 SREBF1 ACTN1 RPS29P1 DDX18P1
GH14F069076 1.4 FANTOM5 Ensembl ENCODE 10.9 -100.0 -99979 5.1 SIN3A BMI1 RAD21 RARA SCRT2 RCOR1 FOS EGR2 ZNF263 ZNF680 ACTN1 SRSF5 DDX18P1 RPS29P1
GH14F069054 1.3 FANTOM5 Ensembl ENCODE 11.1 -76.9 -76942 3.8 CTCF HDAC1 PKNOX1 JUN MAX ZNF175 BMI1 ZIC2 RAD21 FOS ACTN1 EXD2 DCAF5 ZFP36L1 DDX18P1 RPS29P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACTN1 on UCSC Golden Path with GeneCards custom track

Promoters for ACTN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000420048 740 3401 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 FOS ZNF263 SP3 SP5

Genomic Location for ACTN1 Gene

68,874,123 bp from pter
68,979,440 bp from pter
105,318 bases
Minus strand

Genomic View for ACTN1 Gene

Genes around ACTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTN1 Gene

Proteins for ACTN1 Gene

  • Protein details for ACTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3V8S3
    • B4DHH3
    • B7TY16
    • Q1HE25
    • Q9BTN1

    Protein attributes for ACTN1 Gene

    892 amino acids
    Molecular mass:
    103058 Da
    Quaternary structure:
    • Homodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP. Interacts with PSD. Interacts with MICALL2 (By similarity). Interacts with DNM2 and CTTN (By similarity).

    Three dimensional structures from OCA and Proteopedia for ACTN1 Gene

    Alternative splice isoforms for ACTN1 Gene


neXtProt entry for ACTN1 Gene

Post-translational modifications for ACTN1 Gene

  • Ubiquitination at Lys 633
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACTN1 (alpha-Actinin 1)
  • Cell Signaling Technology (CST) Antibodies for ACTN1 (ACTN1)
  • Cloud-Clone Corp. Antibodies for ACTN1

No data available for DME Specific Peptides for ACTN1 Gene

Domains & Families for ACTN1 Gene

Gene Families for ACTN1 Gene

Suggested Antigen Peptide Sequences for ACTN1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 actin-binding domain.
  • Belongs to the alpha-actinin family.
  • Contains 4 spectrin repeats.
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 2 EF-hand domains.
  • Belongs to the alpha-actinin family.
  • Contains 4 spectrin repeats.
genes like me logo Genes that share domains with ACTN1: view

Function for ACTN1 Gene

Molecular function for ACTN1 Gene

GENATLAS Biochemistry:
actinin,alpha 1,actin filament cross-linking,calcium sensitive,cytoskeletal type,expressed in non muscle cells
UniProtKB/Swiss-Prot Function:
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Gene Ontology (GO) - Molecular Function for ACTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0003779 actin binding IEA --
GO:0005178 integrin binding IPI 11223950
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10793131
genes like me logo Genes that share ontologies with ACTN1: view
genes like me logo Genes that share phenotypes with ACTN1: view

Human Phenotype Ontology for ACTN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTN1 Gene

Localization for ACTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTN1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane. Cell junction. Cell projection, ruffle. Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By similarity). {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 3

Gene Ontology (GO) - Cellular Components for ACTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 11223950
GO:0001726 ruffle IEA,IDA 11223950
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005622 intracellular IDA 21784188
genes like me logo Genes that share ontologies with ACTN1: view

Pathways & Interactions for ACTN1 Gene

genes like me logo Genes that share pathways with ACTN1: view

SIGNOR curated interactions for ACTN1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ACTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007015 actin filament organization IMP 23434115
GO:0030168 NOT platelet activation IMP 24069336
GO:0030220 platelet formation IMP 23434115
GO:0036344 platelet morphogenesis IMP 23434115
genes like me logo Genes that share ontologies with ACTN1: view

Drugs & Compounds for ACTN1 Gene

(1) Drugs for ACTN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ACTN1: view

Transcripts for ACTN1 Gene

Unigene Clusters for ACTN1 Gene

Actinin, alpha 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^
SP1: - - - -
SP2: -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7: -
SP8: - -
SP11: - -
SP12: -

ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: - - -
SP2: - - - -
SP4: - - - - -
SP7: -

Relevant External Links for ACTN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTN1 Gene

This gene is overexpressed in Artery - Aorta (x4.5) and Esophagus - Muscularis (x4.2).

Protein differential expression in normal tissues from HIPED for ACTN1 Gene

This gene is overexpressed in Bone marrow stromal cell (6.1) and Amniocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACTN1 Gene

Protein tissue co-expression partners for ACTN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACTN1 Gene:


SOURCE GeneReport for Unigene cluster for ACTN1 Gene:

genes like me logo Genes that share expression patterns with ACTN1: view

No data available for mRNA Expression by UniProt/SwissProt for ACTN1 Gene

Orthologs for ACTN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACTN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACTN1 34 35
  • 99.33 (n)
(Monodelphis domestica)
Mammalia ACTN1 35
  • 98 (a)
(Canis familiaris)
Mammalia ACTN1 34 35
  • 94.16 (n)
(Bos Taurus)
Mammalia ACTN1 34 35
  • 94.13 (n)
(Rattus norvegicus)
Mammalia Actn1 34
  • 91.89 (n)
(Mus musculus)
Mammalia Actn1 34 16 35
  • 91.52 (n)
(Ornithorhynchus anatinus)
Mammalia ACTN1 35
  • 91 (a)
(Gallus gallus)
Aves ACTN1 34
  • 85.01 (n)
(Anolis carolinensis)
Reptilia ACTN1 35
  • 97 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia actn1 34
  • 80.94 (n)
Str.11134 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18387 34
(Danio rerio)
Actinopterygii actn1 34 35
  • 81.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta Actn 36
  • 68 (a)
Species where no ortholog for ACTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACTN1 Gene

Gene Tree for ACTN1 (if available)
Gene Tree for ACTN1 (if available)

Paralogs for ACTN1 Gene

Variants for ACTN1 Gene

Sequence variations from dbSNP and Humsavar for ACTN1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs387907345 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193], Pathogenic 68,921,033(-) AAGGC(A/G)TCAAA reference, missense
rs387907346 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193], Pathogenic 68,978,963(-) AGAAG(A/C)AGCAG upstream-variant-2KB, reference, missense
rs387907347 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193], Pathogenic 68,879,987(-) GTTCC(A/G)GGCCT reference, missense
rs387907348 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193], Pathogenic 68,925,641(-) CCTCC(A/G)GAAGG reference, missense
rs387907349 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193], Pathogenic 68,880,030(-) TGACC(C/T)GGGAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACTN1 Gene

Variant ID Type Subtype PubMed ID
nsv977484 CNV duplication 23825009
nsv832823 CNV loss 17160897
nsv479728 CNV novel sequence insertion 20440878
nsv478216 CNV novel sequence insertion 20440878
nsv477313 CNV novel sequence insertion 20440878
nsv474178 CNV novel sequence insertion 20440878
nsv456333 CNV loss 19166990
esv3367176 CNV duplication 20981092
esv2761842 CNV loss 21179565
dgv3736n54 CNV loss 21841781

Variation tolerance for ACTN1 Gene

Residual Variation Intolerance Score: 2.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 47.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTN1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTN1 Gene

Disorders for ACTN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACTN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 15
  • bleeding disorder, platelet type 15
autosomal dominant macrothrombocytopenia
thrombocytopenia-absent radius syndrome
  • chromosome 1q21.1 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ACTN1 in MalaCards View complete list of genes associated with diseases


  • Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. {ECO:0000269 PubMed:23434115, ECO:0000269 PubMed:24069336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACTN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACTN1: view

No data available for Genatlas for ACTN1 Gene

Publications for ACTN1 Gene

  1. Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring. (PMID: 16464232) Kremerskothen J. … Barnekow A. (J. Neurochem. 2006) 3 4 22 64
  2. Cloning and chromosomal localization of the human cytoskeletal alpha- actinin gene reveals linkage to the beta-spectrin gene. (PMID: 2349951) Youssoufian H. … Kwiatkowski D.J. (Am. J. Hum. Genet. 1990) 2 3 4 64
  3. ACTN1 mutations cause congenital macrothrombocytopenia. (PMID: 23434115) Kunishima S. … Ogawa S. (Am. J. Hum. Genet. 2013) 3 4 64
  4. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. (PMID: 24069336) GuAcguen P. … FAcrec C. (PLoS ONE 2013) 3 4 64
  5. Alpha-actinin 1 and alpha-actinin 4: contrasting roles in the survival, motility, and RhoA signaling of astrocytoma cells. (PMID: 20156433) Quick Q. … Skalli O. (Exp. Cell Res. 2010) 3 22 64

Products for ACTN1 Gene

Sources for ACTN1 Gene

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