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Aliases for FMNL1 Gene

Aliases for FMNL1 Gene

  • Formin Like 1 2 3 5
  • CLL-Associated Antigen KW-13 3 4
  • Leukocyte Formin 3 4
  • Formin-Like 1 2 3
  • C17orf1B 3 4
  • C17ORF1 3 4
  • FMNL 3 4
  • Formin-Like 2
  • FHOD4 3
  • KW-13 3
  • FRL1 4

External Ids for FMNL1 Gene

Previous HGNC Symbols for FMNL1 Gene

  • C17orf1B
  • FMNL

Previous GeneCards Identifiers for FMNL1 Gene

  • GC17P043774
  • GC17P040656
  • GC17P043299
  • GC17P039060

Summaries for FMNL1 Gene

Entrez Gene Summary for FMNL1 Gene

  • This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for FMNL1 Gene

FMNL1 (Formin Like 1) is a Protein Coding gene. Among its related pathways are Signaling by Rho GTPases and Mitotic Prometaphase. GO annotations related to this gene include binding and actin filament binding. An important paralog of this gene is FMNL2.

UniProtKB/Swiss-Prot for FMNL1 Gene

  • May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.

Gene Wiki entry for FMNL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMNL1 Gene

Genomics for FMNL1 Gene

Regulatory Elements for FMNL1 Gene

Enhancers for FMNL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FMNL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FMNL1 Gene

Chromosome:
17
Start:
45,221,444 bp from pter
End:
45,247,320 bp from pter
Size:
25,877 bases
Orientation:
Plus strand

Genomic View for FMNL1 Gene

Genes around FMNL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FMNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMNL1 Gene

Proteins for FMNL1 Gene

  • Protein details for FMNL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95466-FMNL1_HUMAN
    Recommended name:
    Formin-like protein 1
    Protein Accession:
    O95466
    Secondary Accessions:
    • D2DGW2
    • Q6DKG5
    • Q6IBP3
    • Q86UH1
    • Q8N671
    • Q8TDH1
    • Q96H10

    Protein attributes for FMNL1 Gene

    Size:
    1100 amino acids
    Molecular mass:
    121854 Da
    Quaternary structure:
    • Interacts with RAC1, PFN1 and PFN2 (By similarity). Interacts (activated by RAC1) with SRGAP2 (via SH3 domain); regulates the actin filament severing activity of FMNL1.
    SequenceCaution:
    • Sequence=AAH21906.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA07870.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FMNL1 Gene

    Alternative splice isoforms for FMNL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FMNL1 Gene

Proteomics data for FMNL1 Gene at MOPED

Post-translational modifications for FMNL1 Gene

Other Protein References for FMNL1 Gene

Antibody Products

No data available for DME Specific Peptides for FMNL1 Gene

Domains & Families for FMNL1 Gene

Protein Domains for FMNL1 Gene

Suggested Antigen Peptide Sequences for FMNL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95466

UniProtKB/Swiss-Prot:

FMNL1_HUMAN :
  • The DAD domain regulates activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
  • Belongs to the formin homology family.
Domain:
  • The DAD domain regulates activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
  • Contains 1 DAD (diaphanous autoregulatory) domain.
  • Contains 1 FH2 (formin homology 2) domain.
  • Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
Family:
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with FMNL1: view

No data available for Gene Families for FMNL1 Gene

Function for FMNL1 Gene

Molecular function for FMNL1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.

Gene Ontology (GO) - Molecular Function for FMNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21148482
GO:0051015 actin filament binding IEA,ISS --
genes like me logo Genes that share ontologies with FMNL1: view
genes like me logo Genes that share phenotypes with FMNL1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FMNL1 Gene

Localization for FMNL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMNL1 Gene

Cytoplasm. Cell membrane; Lipid-anchor. Cytoplasmic vesicle, phagosome. Note=Recruited to actin-rich phagosomes during phagocytosis. Translocates to the plasma membrane upon activation by RAC1 (By similarity). {ECO:0000250}.
Isoform 3: Cytoplasm, cell cortex. Cell projection, bleb. Note=Colocalized with F-actin in bleb protrusions.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FMNL1 Gene COMPARTMENTS Subcellular localization image for FMNL1 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
cytoskeleton 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FMNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with FMNL1: view

Pathways & Interactions for FMNL1 Gene

genes like me logo Genes that share pathways with FMNL1: view

Pathways by source for FMNL1 Gene

Gene Ontology (GO) - Biological Process for FMNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006929 substrate-dependent cell migration IEA --
GO:0009987 cellular process IEA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with FMNL1: view

No data available for SIGNOR curated interactions for FMNL1 Gene

Drugs & Compounds for FMNL1 Gene

No Compound Related Data Available

Transcripts for FMNL1 Gene

Unigene Clusters for FMNL1 Gene

Formin-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FMNL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1:
SP2: - - -
SP3:
SP4:
SP5: -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11: -
SP12:

ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12: -

Relevant External Links for FMNL1 Gene

GeneLoc Exon Structure for
FMNL1
ECgene alternative splicing isoforms for
FMNL1

Expression for FMNL1 Gene

mRNA expression in normal human tissues for FMNL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FMNL1 Gene

This gene is overexpressed in Whole Blood (x23.4).

Protein differential expression in normal tissues from HIPED for FMNL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.1), Tlymphocyte (13.6), Lymph node (10.5), and Monocytes (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FMNL1 Gene



SOURCE GeneReport for Unigene cluster for FMNL1 Gene Hs.100217

mRNA Expression by UniProt/SwissProt for FMNL1 Gene

O95466-FMNL1_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with FMNL1: view

Protein tissue co-expression partners for FMNL1 Gene

- Elite partner

Primer Products

Orthologs for FMNL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMNL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMNL1 35
  • 99.64 (n)
  • 99.82 (a)
FMNL1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FMNL1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FMNL1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FMNL1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fmnl1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves FMNL1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMNL1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5762 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.318 35
zebrafish
(Danio rerio)
Actinopterygii FMNL1 (2 of 2) 36
  • 57 (a)
OneToMany
fmnl1a 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32138 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frl-1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for FMNL1:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for FMNL1 Gene

ENSEMBL:
Gene Tree for FMNL1 (if available)
TreeFam:
Gene Tree for FMNL1 (if available)

Paralogs for FMNL1 Gene

Paralogs for FMNL1 Gene

(4) SIMAP similar genes for FMNL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FMNL1: view

Variants for FMNL1 Gene

Sequence variations from dbSNP and Humsavar for FMNL1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1023995 -- 45,239,153(+) tcagg(C/T)agacc intron-variant
rs1801353 -- 45,242,403(+) TGGCA(C/T)TGAAA reference, synonymous-codon
rs1133458 -- 45,238,180(-) TCTCA(C/T)AGCAT intron-variant
rs1906342 -- 45,226,241(+) CAGCG(A/G)TGGTG intron-variant
rs1989229 -- 45,235,526(-) GTCTC(C/T)CTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FMNL1 Gene

Variant ID Type Subtype PubMed ID
nsv527788 CNV Loss 19592680
nsv908300 CNV Loss 21882294
nsv908302 CNV Loss 21882294
nsv908303 CNV Loss 21882294
esv1004857 CNV Deletion 20482838

Variation tolerance for FMNL1 Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.74; 91.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FMNL1 Gene

HapMap Linkage Disequilibrium report
FMNL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMNL1 Gene

Disorders for FMNL1 Gene

Relevant External Links for FMNL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FMNL1

No disorders were found for FMNL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FMNL1 Gene

Publications for FMNL1 Gene

  1. The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17. (PMID: 9799091) Aronsson F.C. … Brookes A.J. (Hum. Genet. 1998) 2 3 4 67
  2. Identification and characterization of human FMNL1, FMNL2 and FMNL3 genes in silico. (PMID: 12684686) Katoh M. … Katoh M. (Int. J. Oncol. 2003) 2 3 23
  3. Formin-like 1 (FMNL1) is regulated by N-terminal myristoylation and induces polarized membrane blebbing. (PMID: 19815554) Han Y. … Krackhardt A.M. (J. Biol. Chem. 2009) 3 23
  4. Identification and characterization of human DAAM2 gene in silico. (PMID: 12632087) Katoh M. … Katoh M. (Int. J. Oncol. 2003) 3 23
  5. Human leukocyte formin: a novel protein expressed in lymphoid malignancies and associated with Akt. (PMID: 14592423) Favaro P.M. … Saad S.T. (Biochem. Biophys. Res. Commun. 2003) 3 23

Products for FMNL1 Gene

Sources for FMNL1 Gene

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