This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs,... See more...

Aliases for FSCN1 Gene

Aliases for FSCN1 Gene

  • Fascin Actin-Bundling Protein 1 2 3 5
  • P55 2 3 4
  • 55 KDa Actin-Bundling Protein 3 4
  • Fascin 3 4
  • FAN1 3 4
  • HSN 3 4
  • SNL 3 4
  • Fascin Homolog 1, Actin-Bundling Protein (Strongylocentrotus Purpuratus) 2
  • Singed (Drosophila)-Like (Sea Urchin Fascin Homolog Like) 2
  • Epididymis Secretory Sperm Binding Protein 3
  • Fascin Homolog 1, Actin-Bundling Protein 3
  • Singed-Like (Fascin Homolog, Sea Urchin) 3
  • Singed, Drosophila, Homolog-Like 2
  • Actin Bundling Protein 2
  • Singed-Like Protein 4
  • FLJ38511 2
  • FSCN1 5

External Ids for FSCN1 Gene

Previous HGNC Symbols for FSCN1 Gene

  • SNL

Previous GeneCards Identifiers for FSCN1 Gene

  • GC07P005276
  • GC07P005376
  • GC07P005405
  • GC07P005598
  • GC07P005544
  • GC07P005632

Summaries for FSCN1 Gene

Entrez Gene Summary for FSCN1 Gene

  • This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]

GeneCards Summary for FSCN1 Gene

FSCN1 (Fascin Actin-Bundling Protein 1) is a Protein Coding gene. Diseases associated with FSCN1 include Juvenile Xanthogranuloma and Inverted Papilloma. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Interleukin-4 and 13 signaling. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is FSCN2.

UniProtKB/Swiss-Prot Summary for FSCN1 Gene

  • Actin-binding protein that contains 2 major actin binding sites (PubMed:21685497, PubMed:23184945). Organizes filamentous actin into parallel bundles (PubMed:20393565, PubMed:21685497, PubMed:23184945). Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers (PubMed:22155786). Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration (PubMed:20393565, PubMed:21685497, PubMed:23184945). Mediates reorganization of the actin cytoskeleton and axon growth cone collapse in response to NGF (PubMed:22155786).

Gene Wiki entry for FSCN1 Gene

Additional gene information for FSCN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FSCN1 Gene

Genomics for FSCN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FSCN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSCN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSCN1

Top Transcription factor binding sites by QIAGEN in the FSCN1 gene promoter:
  • CREB
  • deltaCREB
  • p53

Genomic Locations for FSCN1 Gene

Genomic Locations for FSCN1 Gene
chr7:5,592,816-5,606,655
(GRCh38/hg38)
Size:
13,840 bases
Orientation:
Plus strand
chr7:5,632,439-5,646,286
(GRCh37/hg19)
Size:
13,848 bases
Orientation:
Plus strand

Genomic View for FSCN1 Gene

Genes around FSCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSCN1 Gene

Proteins for FSCN1 Gene

  • Protein details for FSCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16658-FSCN1_HUMAN
    Recommended name:
    Fascin
    Protein Accession:
    Q16658
    Secondary Accessions:
    • A6NI89
    • B2RE97
    • Q96IC5
    • Q96IH1
    • Q9BRF1

    Protein attributes for FSCN1 Gene

    Size:
    493 amino acids
    Molecular mass:
    54530 Da
    Quaternary structure:
    • Interacts with RUFY3 (via N-terminus); the interaction induces neuron axon development (By similarity). Interacts with NGFR (By similarity). Associates with CTNNB1 (By similarity). Interacts with PLXNB3 (PubMed:21706053).
    SequenceCaution:
    • Sequence=AAH07539.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FSCN1 Gene

neXtProt entry for FSCN1 Gene

Post-translational modifications for FSCN1 Gene

  • Phosphorylation at Ser-39 inhibits actin-binding (PubMed:8647875, PubMed:8999969). Phosphorylation is required for the reorganization of the actin cytoskeleton in response to NGF (PubMed:22155786).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FSCN1 Gene

No data available for DME Specific Peptides for FSCN1 Gene

Domains & Families for FSCN1 Gene

Gene Families for FSCN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FSCN1 Gene

Suggested Antigen Peptide Sequences for FSCN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38511 fis, clone HCHON2000417, highly similar to FASCIN (B3KTM9_HUMAN)
  • p55 (FSCN1_HUMAN)
  • FSCN1 protein (Q96IH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16658

UniProtKB/Swiss-Prot:

FSCN1_HUMAN :
  • Composed of four fascin beta-trefoil domains.
  • Belongs to the fascin family.
Domain:
  • Composed of four fascin beta-trefoil domains.
Family:
  • Belongs to the fascin family.
genes like me logo Genes that share domains with FSCN1: view

Function for FSCN1 Gene

Molecular function for FSCN1 Gene

UniProtKB/Swiss-Prot Function:
Actin-binding protein that contains 2 major actin binding sites (PubMed:21685497, PubMed:23184945). Organizes filamentous actin into parallel bundles (PubMed:20393565, PubMed:21685497, PubMed:23184945). Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers (PubMed:22155786). Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration (PubMed:20393565, PubMed:21685497, PubMed:23184945). Mediates reorganization of the actin cytoskeleton and axon growth cone collapse in response to NGF (PubMed:22155786).

Phenotypes From GWAS Catalog for FSCN1 Gene

Gene Ontology (GO) - Molecular Function for FSCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin binding IEA,IDA 8999969
GO:0005515 protein binding IPI 15161933
GO:0008144 drug binding IDA 20393565
GO:0030674 protein binding, bridging IEA --
genes like me logo Genes that share ontologies with FSCN1: view
genes like me logo Genes that share phenotypes with FSCN1: view

Animal Models for FSCN1 Gene

MGI Knock Outs for FSCN1:
  • Fscn1 Fscn1<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for FSCN1

CRISPR Products

miRNA for FSCN1 Gene

miRTarBase miRNAs that target FSCN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSCN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FSCN1 Gene

Localization for FSCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSCN1 Gene

Cytoplasm, cytosol. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cell projection, filopodium. Cell projection, invadopodium. Cell projection, microvillus. Cell junction. Note=Colocalized with RUFY3 and F-actin at filipodia of the axonal growth cone. Colocalized with DBN1 and F-actin at the transitional domain of the axonal growth cone (By similarity). {ECO:0000250 UniProtKB:Q61553, ECO:0000269 PubMed:21706053}.

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 FSCN1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 3
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FSCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 3525578
GO:0001726 ruffle IBA,IDA 3525578
GO:0002102 podosome IDA 20137952
GO:0005737 cytoplasm IBA,IDA 9571235
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FSCN1: view

Pathways & Interactions for FSCN1 Gene

genes like me logo Genes that share pathways with FSCN1: view

Pathways by source for FSCN1 Gene

1 Sino Biological pathway for FSCN1 Gene
1 KEGG pathway for FSCN1 Gene
1 GeneGo (Thomson Reuters) pathway for FSCN1 Gene
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
2 Cell Signaling Technology pathways for FSCN1 Gene

SIGNOR curated interactions for FSCN1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FSCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IEA --
GO:0007043 cell-cell junction assembly IDA 9571235
GO:0007163 establishment or maintenance of cell polarity IBA 21873635
GO:0010592 positive regulation of lamellipodium assembly IDA 9571235
GO:0016477 cell migration IEA,IMP 20393565
genes like me logo Genes that share ontologies with FSCN1: view

Drugs & Compounds for FSCN1 Gene

(4) Drugs for FSCN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for FSCN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FSCN1: view

Transcripts for FSCN1 Gene

mRNA/cDNA for FSCN1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSCN1

Alternative Splicing Database (ASD) splice patterns (SP) for FSCN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b · 8c
SP1: - - - - - -
SP2: -
SP3: - - - -
SP4: - -
SP5: -
SP6: - -
SP7:

Relevant External Links for FSCN1 Gene

GeneLoc Exon Structure for
FSCN1

Expression for FSCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FSCN1 Gene

This gene is overexpressed in Testis (10.8), Fetal Brain (7.6), and Lymph node (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FSCN1 Gene



Protein tissue co-expression partners for FSCN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSCN1

SOURCE GeneReport for Unigene cluster for FSCN1 Gene:

Hs.118400

mRNA Expression by UniProt/SwissProt for FSCN1 Gene:

Q16658-FSCN1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for FSCN1 Gene

  • Nervous system(5)
  • Eye(4.8)
  • Lung(4.8)
  • Muscle(4.7)
  • Liver(4.6)
  • Skin(4)
  • Kidney(4)
  • Pancreas(3.3)
  • Heart(3.1)
  • Intestine(2.8)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Blood(2.6)
  • Bone(2.3)
  • Adrenal gland(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with FSCN1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSCN1 Gene

Orthologs for FSCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FSCN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FSCN1 30 31
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FSCN1 30 31
  • 93.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FSCN1 30 31
  • 91.14 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fscn1 30 17 31
  • 90.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fscn1 30
  • 90.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia FSCN1 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FSCN1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FSCN1 30 31
  • 82.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FSCN1 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fscn1 30
  • 70.22 (n)
MGC75811 30
African clawed frog
(Xenopus laevis)
Amphibia LOC397934 30
Zebrafish
(Danio rerio)
Actinopterygii fscn1a 30 31
  • 73.27 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta sn 31
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for FSCN1 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 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 FSCN1 Gene

ENSEMBL:
Gene Tree for FSCN1 (if available)
TreeFam:
Gene Tree for FSCN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FSCN1: view image

Paralogs for FSCN1 Gene

Paralogs for FSCN1 Gene

(1) SIMAP similar genes for FSCN1 Gene using alignment to 6 proteins:

  • FSCN1_HUMAN
  • C9JFC0_HUMAN
  • C9JPH9_HUMAN
  • H7BYX5_HUMAN
  • J3KNT0_HUMAN
  • Q96IH1_HUMAN

Pseudogenes.org Pseudogenes for FSCN1 Gene

genes like me logo Genes that share paralogs with FSCN1: view

Variants for FSCN1 Gene

Additional dbSNP identifiers (rs#s) for FSCN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FSCN1 Gene

Variant ID Type Subtype PubMed ID
dgv3482n106 OTHER inversion 24896259
esv2665366 CNV deletion 23128226
nsv1153033 CNV deletion 26484159
nsv436904 CNV insertion 17901297
nsv819922 CNV gain 19587683
nsv830890 CNV loss 17160897

Variation tolerance for FSCN1 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSCN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSCN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSCN1 Gene

Disorders for FSCN1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for FSCN1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
juvenile xanthogranuloma
  • multiple eruptive juvenile xanthogranuloma
inverted papilloma
  • inverted papilloma, squamous cell
rosai-dorfman disease
  • histiocytosis with joint contractures and sensorineural deafness
langerhans cell histiocytosis
  • letterer-siwe disease
bile duct cancer
  • bile duct tumor
- elite association - COSMIC cancer census association via MalaCards
Search FSCN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FSCN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FSCN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FSCN1 Gene

Publications for FSCN1 Gene

  1. cDNA cloning and expression of the human homolog of the sea urchin fascin and Drosophila singed genes which encodes an actin-bundling protein. (PMID: 8068206) Duh FM … Lerman MI (DNA and cell biology 1994) 2 3 4 23
  2. The actin-bundling protein fascin stabilizes actin in invadopodia and potentiates protrusive invasion. (PMID: 20137952) Li A … Machesky LM (Current biology : CB 2010) 3 4 23
  3. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. (PMID: 10783262) Tubb BE … Bryan J (Genomics 2000) 2 3 23
  4. Fascin, an actin-bundling protein, induces membrane protrusions and increases cell motility of epithelial cells. (PMID: 9571235) Yamashiro S … Matsumura F (Molecular biology of the cell 1998) 3 4 23
  5. Identification of an actin binding region and a protein kinase C phosphorylation site on human fascin. (PMID: 8999969) Ono S … Matsumura F (The Journal of biological chemistry 1997) 3 4 23

Products for FSCN1 Gene

Sources for FSCN1 Gene