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 ... See more...

Aliases for ACTN1 Gene

Aliases for ACTN1 Gene

  • Actinin Alpha 1 2 3 5
  • F-Actin Cross-Linking Protein 3 4
  • Non-Muscle Alpha-Actinin-1 3 4
  • Alpha-Actinin-1 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Alpha-Actinin Cytoskeletal Isoform 4
  • Actinin 1 Smooth Muscle 3
  • BDPLT15 3
  • ACTN1 5

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 MET promotes cell motility and Adherens junction. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTN1 Gene

Genomics for ACTN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J068973 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.9 933 9.8 SP1 MYC ZNF600 IKZF1 ATF2 KLF9 CEBPA POLR2A ZIC2 ZBTB10 ACTN1-DT ACTN1 lnc-DCAF5-4 ZFP36L1
GH14J068778 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.4 +191.2 191219 20.4 BCLAF1 SP1 ZNF207 MYC ZNF654 ZNF600 NCOR1 IKZF1 SSRP1 ZNF580 ZFP36L1 HSALNG0102114 HSALNG0102115 HSALNG0102116 SRSF5 ZFYVE26 SUSD6 DDX18P1 DCAF5 ACTN1
GH14J068935 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +34.8 34779 18.3 IKZF1 ZNF600 SSRP1 JUND ZNF592 ZMYM3 ATF2 CEBPA ZNF10 ATF3 ACTN1 GALNT16 BANF1P1 lnc-RAD51B-3 ACTN1-DT ZFP36L1
GH14J069149 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.5 -172.9 -172915 5.8 BCLAF1 ZNF207 MYC NCOR1 IKZF1 ZNF580 POLR2A ZIC2 ZBTB10 YY1 DCAF5 ENSG00000276063 lnc-DCAF5-3 lnc-EXD2-10 ACTN1 HMGN1P3 ENSG00000206768
GH14J068954 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 13.2 +22.3 22323 5.1 SSRP1 ZIC2 MXD4 HOMEZ KMT2B THAP11 FOXA2 KDM6A RXRA SMAD4 ACTN1 ACTN1-DT lnc-RAD51B-3 ZFP36L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTN1

Top Transcription factor binding sites by QIAGEN in the ACTN1 gene promoter:
  • AhR
  • Arnt
  • c-Myb
  • CREB
  • Elk-1
  • GR
  • GR-alpha
  • MyoD
  • Sp1

Genomic Locations for ACTN1 Gene

Latest Assembly
chr14:68,874,123-68,979,440
(GRCh38/hg38)
Size:
105,318 bases
Orientation:
Minus strand

Previous Assembly
chr14:69,340,845-69,446,019
(GRCh37/hg19 by Entrez Gene)
Size:
105,175 bases
Orientation:
Minus strand

chr14:69,340,860-69,446,157
(GRCh37/hg19 by Ensembl)
Size:
105,298 bases
Orientation:
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:
    P12814-ACTN1_HUMAN
    Recommended name:
    Alpha-actinin-1
    Protein Accession:
    P12814
    Secondary Accessions:
    • B3V8S3
    • B4DHH3
    • B7TY16
    • Q1HE25
    • Q9BTN1

    Protein attributes for ACTN1 Gene

    Size:
    892 amino acids
    Molecular mass:
    103058 Da
    Quaternary structure:
    • Homodimer; antiparallel. Interacts with MYOZ2, TTID and LPP (PubMed:10369880, PubMed:11114196, PubMed:12615977). Interacts with DDN (PubMed:16464232). Interacts with PSD. Interacts with MICALL2 (By similarity). Interacts with DNM2 and CTTN. Interacts with PDLIM1. Interacts with PDLIM2. Interacts with PDLIM4 (via PDZ domain) (By similarity).

    Three dimensional structures from OCA and Proteopedia for ACTN1 Gene

    Alternative splice isoforms for ACTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACTN1 Gene

Post-translational modifications for ACTN1 Gene

  • Ubiquitination at Lys633
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACTN1 Gene

Domains & Families for ACTN1 Gene

Gene Families for ACTN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACTN1 Gene

InterPro:
Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat

Suggested Antigen Peptide Sequences for ACTN1 Gene

GenScript: Design optimal peptide antigens:
  • ACTN1 protein (A1L0V1_HUMAN)
  • Non-muscle alpha-actinin-1 (ACTN1_HUMAN)
  • Actinin alpha 1 isoform 3 (B7TY16_HUMAN)
  • Alpha-actinin 1 (Q5ZEZ4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12814

UniProtKB/Swiss-Prot:

ACTN1_HUMAN :
  • Belongs to the alpha-actinin family.
Family:
  • Belongs to the alpha-actinin family.
genes like me logo Genes that share domains with ACTN1: view

Function for ACTN1 Gene

Molecular function for ACTN1 Gene

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.
GENATLAS Biochemistry:
actinin,alpha 1,actin filament cross-linking,calcium sensitive,cytoskeletal type,expressed in non muscle cells

Phenotypes From GWAS Catalog for ACTN1 Gene

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 IEA,IPI 11223950
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 10753915
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTN1

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. {ECO:0000250 UniProtKB:Q7TPR4}.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 5
cytosol 5
plasma membrane 4
extracellular 4
nucleus 3
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Focal adhesion sites (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA,IDA 11223950
GO:0001726 ruffle IEA,IDA 11223950
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 16502470
GO:0005737 cytoplasm IEA,IDA 16464232
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

Pathways by source for ACTN1 Gene

6 GeneGo (Thomson Reuters) pathways for ACTN1 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Integrin outside-in signaling
6 Qiagen pathways for ACTN1 Gene
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • ILK Signaling
  • Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for ACTN1 Gene

SIGNOR curated interactions for ACTN1 Gene

Inactivates:
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

(3) Drugs for ACTN1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Human calcitonin Approved, Investigational Pharma Target, incorporation into and destabilization 0
genes like me logo Genes that share compounds with ACTN1: view

Transcripts for ACTN1 Gene

mRNA/cDNA for ACTN1 Gene

3 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTN1

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: -
SP3:
SP4:
SP5: - - - - -
SP6: - - - - - - - - - -
SP7: -
SP8: - -
SP9:
SP10:
SP11: - -
SP12: -

ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: - - -
SP2: - - - -
SP3:
SP4: - - - - -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ACTN1 Gene

GeneLoc Exon Structure for
ACTN1

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, MaxQB, and MOPED for ACTN1 Gene



Protein tissue co-expression partners for ACTN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTN1

SOURCE GeneReport for Unigene cluster for ACTN1 Gene:

Hs.509765

Evidence on tissue expression from TISSUES for ACTN1 Gene

  • Nervous system(5)
  • Skin(4.9)
  • Intestine(4.8)
  • Liver(4.7)
  • Blood(4.6)
  • Lung(4.4)
  • Kidney(4.3)
  • Pancreas(3.7)
  • Eye(3.3)
  • Heart(3.2)
  • Muscle(3.2)
  • Bone marrow(2.6)
  • Bone(2.3)
  • Spleen(2.3)
  • Lymph node(2.2)
  • Stomach(2.2)
  • Adrenal gland(2.1)
  • Thyroid gland(2.1)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Regions:
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
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
Chimpanzee
(Pan troglodytes)
Mammalia ACTN1 29 30
  • 99.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACTN1 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTN1 29 30
  • 94.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACTN1 29 30
  • 94.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actn1 29
  • 91.89 (n)
Mouse
(Mus musculus)
Mammalia Actn1 29 16 30
  • 91.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACTN1 30
  • 91 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACTN1 29
  • 85.01 (n)
Lizard
(Anolis carolinensis)
Reptilia ACTN1 30
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia actn1 29
  • 80.94 (n)
Str.11134 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.18387 29
Zebrafish
(Danio rerio)
Actinopterygii actn1 29 30
  • 81.72 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Actn 31
  • 68 (a)
Species where no ortholog for ACTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for ACTN1 (if available)
TreeFam:
Gene Tree for ACTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTN1: view image
Alliance of Genome Resources:
Additional Orthologs for ACTN1

Paralogs for ACTN1 Gene

(31) SIMAP similar genes for ACTN1 Gene using alignment to 13 proteins:

  • ACTN1_HUMAN
  • A1L0V1_HUMAN
  • G3V2E8_HUMAN
  • G3V2N5_HUMAN
  • G3V2W4_HUMAN
  • G3V2X9_HUMAN
  • G3V380_HUMAN
  • G3V5M4_HUMAN
  • H0YJ11_HUMAN
  • H0YJW3_HUMAN
  • H7C5W8_HUMAN
  • H9KV75_HUMAN
  • Q5ZEZ4_HUMAN

Pseudogenes.org Pseudogenes for ACTN1 Gene

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

Variants for ACTN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTN1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
872047 Likely Pathogenic: not provided 68,880,030(-) G/C
NM_001130004.2(ACTN1):c.2212C>G (p.Arg738Gly)
MISSENSE
872048 Uncertain Significance: not provided 68,880,056(-) T/C
NM_001130004.2(ACTN1):c.2186A>G (p.Asn729Ser)
MISSENSE
985810 Uncertain Significance: Inborn genetic diseases 68,885,504(-) T/C
NM_001130004.2(ACTN1):c.1306A>G (p.Lys436Glu)
MISSENSE
986185 Likely Pathogenic: Inborn genetic diseases 68,892,180(-) C/T
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln)
MISSENSE
988884 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 68,874,876(-) C/G
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACTN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for ACTN1 Gene

Human Gene Mutation Database (HGMD)
ACTN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTN1
Leiden Open Variation Database (LOVD)
ACTN1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ACTN1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ACTN1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ACTN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTN1_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for ACTN1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ACTN1: view

No data available for Genatlas for ACTN1 Gene

Publications for ACTN1 Gene

  1. ACTN1 mutations cause congenital macrothrombocytopenia. (PMID: 23434115) Kunishima S … Ogawa S (American journal of human genetics 2013) 3 4 72
  2. Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring. (PMID: 16464232) Kremerskothen J … Barnekow A (Journal of neurochemistry 2006) 3 4 22
  3. Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. (PMID: 2349951) Youssoufian H … Kwiatkowski DJ (American journal of human genetics 1990) 2 3 4
  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) Guéguen P … Férec C (PloS one 2013) 3 4
  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 (Experimental cell research 2010) 3 22

Products for ACTN1 Gene

Sources for ACTN1 Gene