The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] See more...

Aliases for FNBP1L Gene

Aliases for FNBP1L Gene

  • Formin Binding Protein 1 Like 2 3 5
  • TOCA1 2 3 4
  • Transducer Of Cdc42-Dependent Actin Assembly Protein 1 3 4
  • Formin-Binding Protein 1-Like 3 4
  • C1orf39 3 4
  • Toca-1 3 4
  • Transducer Of Cdc42-Dependent Actin Assembly 1 3
  • Chromosome 1 Open Reading Frame 39 2
  • Formin Binding Protein 1-Like 2
  • FLJ20275 2
  • FNBP1L 5

External Ids for FNBP1L Gene

Previous HGNC Symbols for FNBP1L Gene

  • C1orf39

Previous GeneCards Identifiers for FNBP1L Gene

  • GC01P093626
  • GC01P093737
  • GC01P093913
  • GC01P092035

Summaries for FNBP1L Gene

Entrez Gene Summary for FNBP1L Gene

  • The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for FNBP1L Gene

FNBP1L (Formin Binding Protein 1 Like) is a Protein Coding gene. Diseases associated with FNBP1L include Malignant Breast Melanoma and Familial Hypocalciuric Hypercalcemia. Among its related pathways are Vesicle-mediated transport and Shigellosis. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is FNBP1.

UniProtKB/Swiss-Prot Summary for FNBP1L Gene

  • Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens.

Gene Wiki entry for FNBP1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FNBP1L Gene

Genomics for FNBP1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FNBP1L 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 FNBP1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FNBP1L

Top Transcription factor binding sites by QIAGEN in the FNBP1L gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • Ik-3
  • ISGF-3
  • Nkx2-2
  • p53
  • POU2F1
  • POU2F1a
  • SRY
  • STAT5B

Genomic Locations for FNBP1L Gene

Latest Assembly
chr1:93,448,067-93,569,671
(GRCh38/hg38)
Size:
121,605 bases
Orientation:
Plus strand

Previous Assembly
chr1:93,913,675-94,020,218
(GRCh37/hg19 by Entrez Gene)
Size:
106,544 bases
Orientation:
Plus strand

chr1:93,913,688-94,020,218
(GRCh37/hg19 by Ensembl)
Size:
106,531 bases
Orientation:
Plus strand

Genomic View for FNBP1L Gene

Genes around FNBP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FNBP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FNBP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FNBP1L Gene

Proteins for FNBP1L Gene

  • Protein details for FNBP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0N5-FBP1L_HUMAN
    Recommended name:
    Formin-binding protein 1-like
    Protein Accession:
    Q5T0N5
    Secondary Accessions:
    • J3QSS4
    • Q5T0N6
    • Q6B097
    • Q6P653
    • Q6R4Q4
    • Q9NXG1

    Protein attributes for FNBP1L Gene

    Size:
    605 amino acids
    Molecular mass:
    70065 Da
    Quaternary structure:
    • Homodimerizes, the dimers can polymerize end-to-end to form filamentous structures (By similarity). Interacts with GTP-bound CDC42 (PubMed:15260990). Interacts with DAAM1, DIAPH1, DIAPH2, DNM1, DNM2 and WASL/N-WASP (PubMed:16326391, PubMed:16630611, PubMed:16418535). Interacts with ATG3 (PubMed:19342671). Interacts (via SH3 domain) with ABI1, WASF2, CDC42 and WIPF1 (PubMed:19798448).
    SequenceCaution:
    • Sequence=BAA91051.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FNBP1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FNBP1L Gene

Post-translational modifications for FNBP1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FNBP1L Gene

Domains & Families for FNBP1L Gene

Gene Families for FNBP1L Gene

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

Protein Domains for FNBP1L Gene

InterPro:
Blocks:
  • Cdc15/Fes/CIP4
  • 2-oxo acid dehydrogenase, acyltransferase component, lipoyl-binding

Suggested Antigen Peptide Sequences for FNBP1L Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78880 (B7Z9L6_HUMAN)
  • Transducer of Cdc42-dependent actin assembly protein 1 (FBP1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T0N5

UniProtKB/Swiss-Prot:

FBP1L_HUMAN :
  • The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation (By similarity).
  • Belongs to the FNBP1 family.
Domain:
  • The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation (By similarity).
Family:
  • Belongs to the FNBP1 family.
genes like me logo Genes that share domains with FNBP1L: view

Function for FNBP1L Gene

Molecular function for FNBP1L Gene

UniProtKB/Swiss-Prot Function:
Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens.

Phenotypes From GWAS Catalog for FNBP1L Gene

Gene Ontology (GO) - Molecular Function for FNBP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16630611
GO:0008289 lipid binding IEA --
GO:0045296 cadherin binding HDA 25468996
GO:0051020 GTPase binding IPI 19798448
genes like me logo Genes that share ontologies with FNBP1L: view
genes like me logo Genes that share phenotypes with FNBP1L: view

miRNA for FNBP1L Gene

miRTarBase miRNAs that target FNBP1L

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FNBP1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FNBP1L Gene

Localization for FNBP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for FNBP1L Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cytoplasmic vesicle. Cell membrane. Peripheral membrane protein. Cytoplasmic side.

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 FNBP1L gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 4
nucleus 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FNBP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22684256
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with FNBP1L: view

Pathways & Interactions for FNBP1L Gene

genes like me logo Genes that share pathways with FNBP1L: view

Pathways by source for FNBP1L Gene

1 KEGG pathway for FNBP1L Gene
1 Qiagen pathway for FNBP1L Gene
  • CDC42 Pathway

Gene Ontology (GO) - Biological Process for FNBP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006900 vesicle budding from membrane IDA 20730103
GO:0006914 autophagy IEA --
GO:0007165 signal transduction IEA --
GO:0010324 membrane invagination IDA 20730103
genes like me logo Genes that share ontologies with FNBP1L: view

No data available for SIGNOR curated interactions for FNBP1L Gene

Drugs & Compounds for FNBP1L Gene

(1) Drugs for FNBP1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(124) Additional Compounds for FNBP1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(28:0)
  • pSer(14:0/14:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1W5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(30:0)
  • pSer(14:0/16:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1W7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(32:0)
  • pSer(14:0/18:0)
genes like me logo Genes that share compounds with FNBP1L: view

Transcripts for FNBP1L Gene

mRNA/cDNA for FNBP1L Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FNBP1L

Alternative Splicing Database (ASD) splice patterns (SP) for FNBP1L Gene

No ASD Table

Relevant External Links for FNBP1L Gene

GeneLoc Exon Structure for
FNBP1L

Expression for FNBP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FNBP1L Gene

Protein differential expression in normal tissues from HIPED for FNBP1L Gene

This gene is overexpressed in Fetal Brain (18.0), Peripheral blood mononuclear cells (8.7), Islet of Langerhans (7.2), and Platelet (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FNBP1L Gene



Protein tissue co-expression partners for FNBP1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FNBP1L

SOURCE GeneReport for Unigene cluster for FNBP1L Gene:

Hs.134060

Evidence on tissue expression from TISSUES for FNBP1L Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Liver(4.2)
  • Kidney(2.6)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with FNBP1L: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FNBP1L Gene

Orthologs for FNBP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for FNBP1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FNBP1L 29 30
  • 99.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FNBP1L 30
  • 98 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Fnbp1l 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FNBP1L 30
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FNBP1L 30
  • 95 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FNBP1L 30
  • 95 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FNBP1L 30
  • 93 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FNBP1L 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fnbp1l 29
  • 77.39 (n)
Str.20339 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.33887 29
Zebrafish
(Danio rerio)
Actinopterygii fnbp1l 29 30
  • 70.74 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Cip4 30
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea toca-1 30
  • 25 (a)
ManyToMany
toca-2 30
  • 19 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToMany
Species where no ortholog for FNBP1L 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)
  • Rat (Rattus norvegicus)
  • 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)

Evolution for FNBP1L Gene

ENSEMBL:
Gene Tree for FNBP1L (if available)
TreeFam:
Gene Tree for FNBP1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FNBP1L: view image
Alliance of Genome Resources:
Additional Orthologs for FNBP1L

Paralogs for FNBP1L Gene

Paralogs for FNBP1L Gene

(4) SIMAP similar genes for FNBP1L Gene using alignment to 3 proteins:

  • FBP1L_HUMAN
  • J3QSS4_HUMAN
  • S4R347_HUMAN
genes like me logo Genes that share paralogs with FNBP1L: view

Variants for FNBP1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FNBP1L Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
993827 Uncertain Significance: none provided 93,567,305(+) C/T
NM_003567.4(BCAR3):c.2273G>A (p.Arg758Gln)
MISSENSE
rs199743116 Benign: not provided 93,530,747(+) G/T
NM_001164473.2(FNBP1L):c.511-8G>T
INTRON
rs78349214 Benign: not provided 93,567,380(+) T/C
NM_003567.4(BCAR3):c.2198A>G (p.Asn733Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FNBP1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FNBP1L Gene

Variant ID Type Subtype PubMed ID
esv3403196 CNV insertion 20981092
nsv1011853 CNV loss 25217958
nsv946083 CNV duplication 23825009

Variation tolerance for FNBP1L Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FNBP1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FNBP1L
Leiden Open Variation Database (LOVD)
FNBP1L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FNBP1L Gene

Disorders for FNBP1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for FNBP1L Gene - From: COP

Disorder Aliases PubMed IDs
malignant breast melanoma
  • breast melanoma
familial hypocalciuric hypercalcemia
  • familial benign hypercalcemia
pontocerebellar hypoplasia
  • pch
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FNBP1L

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FNBP1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FNBP1L Gene

Publications for FNBP1L Gene

  1. A novel hybrid yeast-human network analysis reveals an essential role for FNBP1L in antibacterial autophagy. (PMID: 19342671) Huett A … Xavier RJ (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 4 22
  2. Identification and characterization of human FNBP1L gene in silico. (PMID: 14654988) Katoh M … Katoh M (International journal of molecular medicine 2004) 2 3 22
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. The Toca-1-N-WASP complex links filopodial formation to endocytosis. (PMID: 19213734) Bu W … Ahmed S (The Journal of biological chemistry 2009) 3 22
  5. Requirements for F-BAR proteins TOCA-1 and TOCA-2 in actin dynamics and membrane trafficking during Caenorhabditis elegans oocyte growth and embryonic epidermal morphogenesis. (PMID: 19798448) Giuliani C … Scita G (PLoS genetics 2009) 3 4

Products for FNBP1L Gene

Sources for FNBP1L Gene