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FNBP1L formin binding protein 1 like [ Homo sapiens (human) ]

Gene ID: 54874, updated on 27-Nov-2024

Summary

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Official Symbol
FNBP1Lprovided by HGNC
Official Full Name
formin binding protein 1 likeprovided by HGNC
Primary source
HGNC:HGNC:20851
See related
Ensembl:ENSG00000137942 MIM:608848; AllianceGenome:HGNC:20851
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TOCA1; C1orf39
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 14.8), kidney (RPKM 13.9) and 24 other tissues See more
Orthologs
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Genomic context

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See FNBP1L in Genome Data Viewer
Location:
1p22.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93448118..93554661)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (93293865..93400393)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93913675..94020218)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:93811059-93811594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1331 Neighboring gene F-box and WD repeat domain containing 11 pseudogene Neighboring gene down-regulator of transcription 1 Neighboring gene Sharpr-MPRA regulatory region 11866 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93913324-93914302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93920767-93921285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93920247-93920766 Neighboring gene MPRA-validated peak323 silencer Neighboring gene RNA, 5S ribosomal pseudogene 53 Neighboring gene tRNA-Cys (anticodon GCA) 7-1 Neighboring gene Sharpr-MPRA regulatory region 13550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:94018571-94019099 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:94038039-94039036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94050266-94050778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94054691-94055235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94054146-94054690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94057721-94058221 Neighboring gene BCAR3 adaptor protein, NSP family member Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94075253-94075816 Neighboring gene BCAR3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94079051-94079704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94079705-94080357 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94081011-94081663 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94082971-94083623 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:94102407-94102965 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94101848-94102406 Neighboring gene Sharpr-MPRA regulatory region 755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94104972-94105607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1333 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94109607-94110328 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:94127441-94128640 Neighboring gene Sharpr-MPRA regulatory region 8830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1084 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:94158555-94159754 Neighboring gene uncharacterized LOC102723480 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:94166702-94167901

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of interactions among host and bacterial proteins and evaluation of their role early during Shigella flexneri infection. Miller KA, et al. Microbiology (Reading), 2018 Apr. PMID 29488864, Free PMC Article
  2. Transducer of Cdc42-dependent actin assembly promotes breast cancer invasion and metastasis. Chander H, et al. Oncogene, 2013 Jun 20. PMID 22824798
  3. Membrane-deforming proteins play distinct roles in actin pedestal biogenesis by enterohemorrhagic Escherichia coli. Campellone KG, et al. J Biol Chem, 2012 Jun 8. PMID 22544751, Free PMC Article
  4. Bacterial actin assembly requires toca-1 to relieve N-wasp autoinhibition. Leung Y, et al. Cell Host Microbe, 2008 Jan 17. PMID 18191793, Free PMC Article
  5. A novel hybrid yeast-human network analysis reveals an essential role for FNBP1L in antibacterial autophagy. Huett A, et al. J Immunol, 2009 Apr 15. PMID 19342671, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. During Shigella flexneri infection host protein Toca-1 precipitate not only the Shigella type 3 secreted effector protein IcsB, but also the type 3 secreted proteins OspC3, IpgD and IpaB. In infected cells, OspC3-mediated restriction of IL-18 production does not require the interaction with Toca-1.
    Title: Identification of interactions among host and bacterial proteins and evaluation of their role early during Shigella flexneri infection.
  2. This suggests that TOCA1 binding to Cdc42 is an early step in the Cdc42-dependent pathways that govern actin dynamics, and the differential binding affinities of the effectors facilitate a handover from TOCA1 to N-WASP, which can then drive recruitment of the actin-modifying machinery.
    Title: Investigation of the Interaction between Cdc42 and Its Effector TOCA1: HANDOVER OF Cdc42 TO THE ACTIN REGULATOR N-WASP IS FACILITATED BY DIFFERENTIAL BINDING AFFINITIES.
  3. Loss of p53 tumor suppressor function in breast cancers leads to upregulation of Toca-1, and results in enhanced risk of developing metastatic disease.
    Title: Toca-1 is suppressed by p53 to limit breast cancer cell invasion and tumor metastasis.
  4. GWAS results show that the aggregate effects of common SNPs explain 22-46% of phenotypic variation in childhood intelligence in the three largest cohorts; FNBP1L was also significantly associated with childhood intelligence
    Title: Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
  5. findings suggest that Toca-1 functions at an early step in the dissemination of metastatic breast tumor cells; taken together, results identify Toca-1 as a proinvasive protein in breast adenocarcinoma
    Title: Transducer of Cdc42-dependent actin assembly promotes breast cancer invasion and metastasis.
  6. Toca-1 knockdown cells also display a significant defect in EGF-induced motility and invasiveness.
    Title: Transducer of Cdc42-dependent actin assembly promotes epidermal growth factor-induced cell motility and invasiveness.
  7. Cdc42 may influence endocytic membrane trafficking by regulating the formation and activity of the Toca-1/N-WASP complex.
    Title: Cdc42 interaction with N-WASP and Toca-1 regulates membrane tubulation, vesicle formation and vesicle motility: implications for endocytosis.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. the Toca-1-N-WASP complex can link filopodial formation to endocytosis
    Title: The Toca-1-N-WASP complex links filopodial formation to endocytosis.
  10. FNBP1L appears dispensable for other forms of autophagy induced by serum starvation or rapamycin
    Title: A novel hybrid yeast-human network analysis reveals an essential role for FNBP1L in antibacterial autophagy.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables cadherin binding HDA PubMed 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in clathrin-dependent endocytosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in membrane invagination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in plasma membrane tubulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of filopodium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle budding from membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle transport along actin filament IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
formin-binding protein 1-like
Names
toca-1
transducer of Cdc42-dependent actin assembly 1
transducer of Cdc42-dependent actin assembly protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001024948.3 → NP_001020119.1  formin-binding protein 1-like isoform 1

    See identical proteins and their annotated locations for NP_001020119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks two alternate in-frame exons and differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (1) is shorter and has a distinct C-terminus compared to isoform 3.
    Source sequence(s)
    AC095034, AK000282, AK025526, AY514449, BC062477, DB219295, DW423801
    Consensus CDS
    CCDS53344.1
    UniProtKB/Swiss-Prot
    Q5T0N5
    Related
    ENSP00000260506.8, ENST00000260506.12
    Conserved Domains (3) summary
    cd07675
    Location:5 → 256
    F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
    cd11628
    Location:341 → 421
    HR1_CIP4_FNBP1L; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of vertebrate Cdc42-Interacting Protein 4 and FormiN Binding Protein 1-Like
    cd12072
    Location:483 → 539
    SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like

  2. NM_001164473.3 → NP_001157945.1  formin-binding protein 1-like isoform 3

    See identical proteins and their annotated locations for NP_001157945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC095034, AK000282, AK299760, AY514449, DW423801
    Consensus CDS
    CCDS53343.1
    UniProtKB/Swiss-Prot
    J3QSS4, Q5T0N5, Q5T0N6, Q6B097, Q6P653, Q6R4Q4, Q9NXG1
    Related
    ENSP00000271234.7, ENST00000271234.13
    Conserved Domains (3) summary
    cd07675
    Location:5 → 256
    F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
    cd11628
    Location:399 → 479
    HR1_CIP4_FNBP1L; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of vertebrate Cdc42-Interacting Protein 4 and FormiN Binding Protein 1-Like
    cd12072
    Location:541 → 597
    SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like

  3. NM_017737.5 → NP_060207.2  formin-binding protein 1-like isoform 2

    See identical proteins and their annotated locations for NP_060207.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC095034, AK000282, AY514449, DW423801
    Consensus CDS
    CCDS60192.1
    UniProtKB/Swiss-Prot
    Q5T0N5
    Related
    ENSP00000359275.2, ENST00000370253.6
    Conserved Domains (3) summary
    cd07675
    Location:5 → 256
    F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
    cd11628
    Location:341 → 421
    HR1_CIP4_FNBP1L; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of vertebrate Cdc42-Interacting Protein 4 and FormiN Binding Protein 1-Like
    cd12072
    Location:483 → 539
    SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    93448118..93554661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    93293865..93400393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T0N5.3 GenPept UniProtKB/Swiss-Prot:Q5T0N5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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