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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 PAK Pathway and ERK Signaling. 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 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

Additional gene information for ACTN1 Gene

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

Genomics for ACTN1 Gene

GeneHancer (GH) Regulatory Elements for ACTN1 Gene

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
GH14I068973 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 933 9.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 FOS SP3 ACTN1-AS1 ACTN1 DCAF5 SUSD6 DDX18P1 SRSF5 GC14P068937
GH14I068931 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +37.0 37039 22.8 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A YY1 ZNF143 FOS SP5 MXD4 ACTN1 ZFP36L1 DCAF5 GALNT16 GC14P068937 BANF1P1
GH14I068954 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +22.3 22323 5.1 FOXA2 MLX ARID4B DMAP1 ZNF48 RXRA SP5 NFYC ZHX2 MXD4 ACTN1 GC14P068937
GH14I069042 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -65.8 -65760 5.6 BCOR MEIS2 CTCF FOXA2 NFIB MAX ZMYM3 RAD21 YY1 ZNF335 ACTN1 RPS29P1 DDX18P1
GH14I069048 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -71.6 -71645 5 SOX13 SMAD1 NFIB MAX RAD21 RFX5 YY1 RFX1 NFIA RXRA ACTN1 RPS29P1 DDX18P1 DCAF5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTN1 gene promoter:

Genomic Locations for ACTN1 Gene

Genomic Locations for ACTN1 Gene
chr14:68,874,123-68,979,440
(GRCh38/hg38)
Size:
105,318 bases
Orientation:
Minus strand
chr14:69,340,840-69,446,157
(GRCh37/hg19)

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

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
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACTN1 Gene

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

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.

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 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

Clone Products

  • Addgene plasmids 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
extracellular 5
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • 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 IDA 11223950
GO:0001726 ruffle IEA,IDA 11223950
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,HDA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
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:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
ACTN1

Expression for ACTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

ACTN1

SOURCE GeneReport for Unigene cluster for ACTN1 Gene:

Hs.509765

Evidence on tissue expression from TISSUES for ACTN1 Gene

  • Nervous system(5)
  • Intestine(4.8)
  • Skin(4.8)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(4.3)
  • Kidney(4.2)
  • Pancreas(3.4)
  • Eye(2.9)
  • Heart(2.7)
  • Muscle(2.7)
  • Gall bladder(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Organs:
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 33 34
  • 99.33 (n)
oppossum
(Monodelphis domestica)
Mammalia ACTN1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTN1 33 34
  • 94.16 (n)
cow
(Bos Taurus)
Mammalia ACTN1 33 34
  • 94.13 (n)
rat
(Rattus norvegicus)
Mammalia Actn1 33
  • 91.89 (n)
mouse
(Mus musculus)
Mammalia Actn1 33 16 34
  • 91.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACTN1 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACTN1 33
  • 85.01 (n)
lizard
(Anolis carolinensis)
Reptilia ACTN1 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actn1 33
  • 80.94 (n)
Str.11134 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18387 33
zebrafish
(Danio rerio)
Actinopterygii actn1 33 34
  • 81.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta Actn 35
  • 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

ENSEMBL:
Gene Tree for ACTN1 (if available)
TreeFam:
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 Variation AA Info Type
rs387907345 pathogenic, Platelet-type bleeding disorder 15, Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] 68,921,033(-) C/T coding_sequence_variant, missense_variant
rs387907346 pathogenic, Platelet-type bleeding disorder 15, Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] 68,978,963(-) G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs387907347 pathogenic, Platelet-type bleeding disorder 15, Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] 68,879,987(-) C/T coding_sequence_variant, missense_variant
rs387907348 pathogenic, Platelet-type bleeding disorder 15, Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] 68,925,641(-) C/T coding_sequence_variant, missense_variant
rs387907349 pathogenic, Platelet-type bleeding disorder 15, Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] 68,880,030(-) G/A coding_sequence_variant, missense_variant

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

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

Disorders for ACTN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ACTN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ACTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (Journal of neurochemistry 2006) 3 4 22 58
  2. 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 58
  3. ACTN1 mutations cause congenital macrothrombocytopenia. (PMID: 23434115) Kunishima S … Ogawa S (American journal of human genetics 2013) 3 4 58
  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 58
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58

Products for ACTN1 Gene

Sources for ACTN1 Gene

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