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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
  • C17orf1B 3 4
  • C17orf1 3 4
  • FMNL 3 4
  • Formin-Like Protein 1 3
  • Formin-Like 1 2
  • 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. Gene Ontology (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

Additional gene information for FMNL1 Gene

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

Genomics for FMNL1 Gene

GeneHancer (GH) Regulatory Elements for FMNL1 Gene

Promoters and enhancers for FMNL1 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
GH17J045220 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 690.5 +4.9 4883 12.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A IRF4 SLC30A9 POLR2B ZNF766 ZNF143 FMNL1 PLEKHM1 ENSG00000233175 LRRC37A4P ENSG00000233483 ARHGAP27 SLC25A39 SPATA32 KANSL1-AS1 MAP3K14
GH17J045240 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 650.3 +20.3 20297 1.8 HIC1 MXI1 POLR2A SIN3A ZBTB33 GC17P045262 GC17P045275 GC17P045273 GC17P045272 GC17P045269 GC17P045267 GC17P045264 GC17P045263 GC17P045244 GC17P045242
GH17J045219 Enhancer 0.7 ENCODE dbSUPER 650.7 -2.0 -1975 0.2 CTCF SKIL ARNT ZNF629 REST ZEB2 FMNL1 LOC339192 GC17P045196
GH17J045305 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.2 +92.3 92287 17.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 MAP3K14 FMNL1 SPATA32 PLEKHM1 ENSG00000262372 KANSL1 LINC02210 ARHGAP27 EFTUD2 ENSG00000224505
GH17J045404 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +189.4 189359 13.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 GLIS2 ATF7 GC17M045407 LINC02210 LRRC37A4P ARHGAP27 ARL17B KANSL1 FMNL1 ENSG00000262372 SPATA32 LRRC37A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FMNL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FMNL1 gene promoter:
  • HSF2
  • MAZR
  • AP-1
  • ISGF-3
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB
  • JunD

Genomic Locations for FMNL1 Gene

Genomic Locations for FMNL1 Gene
chr17:45,221,444-45,247,320
(GRCh38/hg38)
Size:
25,877 bases
Orientation:
Plus strand
chr17:43,298,811-43,324,687
(GRCh37/hg19)
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

Post-translational modifications for FMNL1 Gene

  • Myristoylation mediates membrane localization and blebbing.
  • Ubiquitination at isoforms=2, 3111
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FMNL1 Gene

Domains & Families for FMNL1 Gene

Gene Families for FMNL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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).
Family:
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with FMNL1: view

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.

Phenotypes From GWAS Catalog for FMNL1 Gene

Gene Ontology (GO) - Molecular Function for FMNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 21148482
GO:0005522 profilin binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FMNL1

Clone 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
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 FMNL1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FMNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane ISS --
GO:0005938 cell cortex IEA --
GO:0016020 membrane IEA,HDA 19946888
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:0007010 cytoskeleton organization IEA --
GO:0008360 regulation of cell shape IEA,IMP 21834987
GO:0009987 cellular process IEA --
GO:0016043 cellular component 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FMNL1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FMNL1 Gene



Protein tissue co-expression partners for FMNL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FMNL1 Gene:

FMNL1

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.

Evidence on tissue expression from TISSUES for FMNL1 Gene

  • Blood(4.6)
  • Nervous system(4.6)
  • Bone marrow(4.4)
  • Liver(4.2)
  • Lymph node(2.4)
genes like me logo Genes that share expression patterns with FMNL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FMNL1 Gene

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 34 33
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FMNL1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FMNL1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fmnl1 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FMNL1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FMNL1 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMNL1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5762 33
zebrafish
(Danio rerio)
Actinopterygii FMNL1 (2 of 2) 34
  • 57 (a)
OneToMany
fmnl1a 34
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.318 33
fruit fly
(Drosophila melanogaster)
Insecta CG32138 34
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frl-1 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for FMNL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FMNL1: view image

Paralogs for FMNL1 Gene

Paralogs for FMNL1 Gene

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

  • FMNL_HUMAN
  • I6L9I9_HUMAN
  • K7EJE6_HUMAN
  • K7EK60_HUMAN
  • K7EMY8_HUMAN
  • K7ERL1_HUMAN
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 Variation AA Info Type
rs1000184837 -- 45,228,441(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000185073 -- 45,223,550(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000214357 -- 45,223,232(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000367349 -- 45,228,833(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000412499 -- 45,234,394(+) G/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv1004857 CNV deletion 20482838
nsv1070406 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv527788 CNV loss 19592680
nsv953904 CNV deletion 24416366

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)

Additional Variant Information for FMNL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FMNL1

SNP Genotyping and Copy Number Assay Products

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

Disorders for FMNL1 Gene

Additional Disease Information for 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. Formin-like 1 (FMNL1) is regulated by N-terminal myristoylation and induces polarized membrane blebbing. (PMID: 19815554) Han Y … Krackhardt AM (The Journal of biological chemistry 2009) 3 4 22 58
  2. Identification and characterization of human FMNL1, FMNL2 and FMNL3 genes in silico. (PMID: 12684686) Katoh M … Katoh M (International journal of oncology 2003) 2 3 22 58
  3. 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 FC … Brookes AJ (Human genetics 1998) 2 3 4 58
  4. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 58
  5. Bi-modal regulation of a formin by srGAP2. (PMID: 21148482) Mason FM … Soderling SH (The Journal of biological chemistry 2011) 3 4 58

Products for FMNL1 Gene

Sources for FMNL1 Gene

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