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Aliases for FMN1 Gene

Aliases for FMN1 Gene

  • Formin 1 2 3 5
  • Limb Deformity Protein Homolog 3 4
  • Formin (Limb Deformity) 2 3
  • FMN 3 4
  • LD 3 4
  • Limb Deformity Protein 2

External Ids for FMN1 Gene

Previous HGNC Symbols for FMN1 Gene

  • LD
  • FMN

Previous GeneCards Identifiers for FMN1 Gene

  • GC15M030854
  • GC15M033066
  • GC15M009919
  • GC15M033059

Summaries for FMN1 Gene

Entrez Gene Summary for FMN1 Gene

  • This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

GeneCards Summary for FMN1 Gene

FMN1 (Formin 1) is a Protein Coding gene. Diseases associated with FMN1 include thoracic outlet syndrome and cenani-lenz syndrome. Among its related pathways are Cell adhesion_Cadherin-mediated cell adhesion and E-cadherin signaling in keratinocytes. GO annotations related to this gene include actin binding and microtubule binding. An important paralog of this gene is FHOD1.

UniProtKB/Swiss-Prot for FMN1 Gene

  • Plays a role in the formation of adherens junction and the polymerization of linear actin cables.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMN1 Gene

Genomics for FMN1 Gene

Regulatory Elements for FMN1 Gene

Promoters for FMN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FMN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FMN1 Gene

Chromosome:
15
Start:
32,765,544 bp from pter
End:
33,194,784 bp from pter
Size:
429,241 bases
Orientation:
Minus strand

Genomic View for FMN1 Gene

Genes around FMN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FMN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMN1 Gene

Proteins for FMN1 Gene

  • Protein details for FMN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68DA7-FMN1_HUMAN
    Recommended name:
    Formin-1
    Protein Accession:
    Q68DA7
    Secondary Accessions:
    • Q3B7I6
    • Q3ZAR4
    • Q6ZSY1

    Protein attributes for FMN1 Gene

    Size:
    1419 amino acids
    Molecular mass:
    157578 Da
    Quaternary structure:
    • Interacts with alpha-catenin and may interact with tubulin.

    Alternative splice isoforms for FMN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FMN1 Gene

Proteomics data for FMN1 Gene at MOPED

Post-translational modifications for FMN1 Gene

  • Phosphorylated on serine and possibly threonine residues.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FMN1 Gene

Domains & Families for FMN1 Gene

Protein Domains for FMN1 Gene

Suggested Antigen Peptide Sequences for FMN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q68DA7

UniProtKB/Swiss-Prot:

FMN1_HUMAN :
  • Contains 1 FH1 (formin homology 1) domain.
  • Belongs to the formin homology family. Cappuccino subfamily.
Domain:
  • Contains 1 FH1 (formin homology 1) domain.
  • Contains 1 FH2 (formin homology 2) domain.
Family:
  • Belongs to the formin homology family. Cappuccino subfamily.
genes like me logo Genes that share domains with FMN1: view

No data available for Gene Families for FMN1 Gene

Function for FMN1 Gene

Molecular function for FMN1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the formation of adherens junction and the polymerization of linear actin cables.

Gene Ontology (GO) - Molecular Function for FMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with FMN1: view
genes like me logo Genes that share phenotypes with FMN1: view

Animal Models for FMN1 Gene

MGI Knock Outs for FMN1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FMN1 Gene

Localization for FMN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMN1 Gene

Nucleus. Cytoplasm. Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localization to the adherens junctions is alpha-catenin-dependent. Also localizes to F-actin bundles originating from adherens junctions and to microtubules (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FMN1 Gene COMPARTMENTS Subcellular localization image for FMN1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 4
endosome 1

Gene Ontology (GO) - Cellular Components for FMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005884 actin filament IEA --
GO:0005912 adherens junction IEA --
GO:0015630 microtubule cytoskeleton IEA --
genes like me logo Genes that share ontologies with FMN1: view

Pathways & Interactions for FMN1 Gene

genes like me logo Genes that share pathways with FMN1: view

Pathways by source for FMN1 Gene

1 BioSystems pathway for FMN1 Gene
1 GeneGo (Thomson Reuters) pathway for FMN1 Gene

Gene Ontology (GO) - Biological Process for FMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030838 positive regulation of actin filament polymerization IEA --
GO:0035136 forelimb morphogenesis IEA --
GO:0035137 hindlimb morphogenesis IEA --
GO:0045010 actin nucleation IEA --
GO:0048705 skeletal system morphogenesis IEA --
genes like me logo Genes that share ontologies with FMN1: view

No data available for SIGNOR curated interactions for FMN1 Gene

Drugs & Compounds for FMN1 Gene

(3) Drugs for FMN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for FMN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FMN1: view

Transcripts for FMN1 Gene

Unigene Clusters for FMN1 Gene

Formin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FMN1 Gene

No ASD Table

Relevant External Links for FMN1 Gene

GeneLoc Exon Structure for
FMN1
ECgene alternative splicing isoforms for
FMN1

Expression for FMN1 Gene

mRNA expression in normal human tissues for FMN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FMN1 Gene

This gene is overexpressed in Retina (49.7) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FMN1 Gene



SOURCE GeneReport for Unigene cluster for FMN1 Gene Hs.657649

genes like me logo Genes that share expression patterns with FMN1: view

Protein tissue co-expression partners for FMN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FMN1 Gene

Orthologs for FMN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMN1 36
  • 98 (a)
OneToOne
FMN1 35
  • 98.67 (n)
  • 97.61 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FMN1 36
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fmn1 16
Fmn1 36
  • 49 (a)
OneToOne
Fmn1 35
  • 82.15 (n)
  • 76.77 (a)
oppossum
(Monodelphis domestica)
Mammalia FMN1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FMN1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fmn1 35
  • 81.37 (n)
  • 76.01 (a)
chicken
(Gallus gallus)
Aves FMN1 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmn1 35
  • 58.63 (n)
  • 52.41 (a)
zebrafish
(Danio rerio)
Actinopterygii fmn1 36
  • 34 (a)
OneToMany
FMN1 (2 of 4) 36
  • 67 (a)
OneToMany
FMN1 (3 of 4) 36
  • 35 (a)
OneToMany
FMN1 (4 of 4) 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta capu 36
  • 21 (a)
OneToMany
Species with no ortholog for FMN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 FMN1 Gene

ENSEMBL:
Gene Tree for FMN1 (if available)
TreeFam:
Gene Tree for FMN1 (if available)

Paralogs for FMN1 Gene

Paralogs for FMN1 Gene

(2) SIMAP similar genes for FMN1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FMN1: view

Variants for FMN1 Gene

Sequence variations from dbSNP and Humsavar for FMN1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs2306277 - 33,065,061(-) CAGCC(C/T)GACTG intron-variant, reference, missense
rs538535 -- 32,881,283(-) ACTTA(A/C)ATGTA intron-variant
rs43768 -- 32,926,012(+) ggggc(A/G)ttttc intron-variant
rs544432 -- 32,879,171(-) AAGTA(A/T)TTCAG intron-variant, utr-variant-3-prime
rs551704 -- 32,878,404(-) TCTTG(C/G)TCTTC intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for FMN1 Gene

Variant ID Type Subtype PubMed ID
esv33337 CNV Gain+Loss 17666407
esv2422296 CNV Duplication 17116639
nsv456785 CNV Gain 19166990
nsv832961 CNV Gain 17160897
nsv903977 CNV Gain 21882294
esv1210728 CNV Insertion 17803354
esv1647338 CNV Deletion 17803354
esv2749543 CNV Deletion 23290073
esv1533512 CNV Deletion 17803354
nsv1482 CNV Loss 18451855
nsv832962 CNV Loss 17160897
esv268415 CNV Insertion 20981092
dgv2336n71 CNV Gain 21882294
dgv2337n71 CNV Gain 21882294
esv2749544 CNV Deletion 23290073
esv1089006 CNV Deletion 17803354
nsv903982 CNV Gain 21882294
nsv521903 CNV Loss 19592680
nsv524708 CNV Loss 19592680

Variation tolerance for FMN1 Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.56; 98.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FMN1 Gene

HapMap Linkage Disequilibrium report
FMN1
Human Gene Mutation Database (HGMD)
FMN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMN1 Gene

Disorders for FMN1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FMN1 Gene - From: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thoracic outlet syndrome
  • tos - thoracic outlet syndrome
cenani-lenz syndrome
  • syndactyly cenani lenz type
epiphyseal chondrodysplasia, miura type
  • ecdm
sarcomatosis
  • sarcomatosis nos
renal hypoplasia
- elite association - COSMIC cancer census association via MalaCards
Search FMN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FMN1

Genetic Association Database (GAD)
FMN1
Human Genome Epidemiology (HuGE) Navigator
FMN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FMN1
genes like me logo Genes that share disorders with FMN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FMN1 Gene

Publications for FMN1 Gene

  1. A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs. (PMID: 1673046) Maas R.L. … Leder P. (Am. J. Hum. Genet. 1991) 2 3 4 23 67
  2. Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins. (PMID: 19605360) Pechlivanis M. … Kerkhoff E. (J. Biol. Chem. 2009) 3 23
  3. Identification and characterization of the human FMN1 gene in silico. (PMID: 15202026) Katoh M. … Katoh M. (Int. J. Mol. Med. 2004) 3 23
  4. Mammalian formin-1 participates in adherens junctions and polymerization of linear actin cables. (PMID: 14647292) Kobielak A. … Fuchs E. (Nat. Cell Biol. 2004) 3 23
  5. Probing nuclear pore complex architecture with proximity-dependent biotinylation. (PMID: 24927568) Kim D.I. … Roux K.J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3

Products for FMN1 Gene

Sources for FMN1 Gene

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