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

    Gene ID: 54874, updated on 3-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
    mouse all
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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 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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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    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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