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

    Gene ID: 54874, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See FNBP1L in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (93448067..93569671)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93913688..94020218)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 11 pseudogene Neighboring gene down-regulator of transcription 1 Neighboring gene RNA, 5S ribosomal pseudogene 53 Neighboring gene transfer RNA cysteine (anticodon GCA) Neighboring gene uncharacterized LOC100129046 Neighboring gene BCAR3 adaptor protein, NSP family member Neighboring gene uncharacterized LOC102723480

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_001024948.2NP_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)
      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:5256
      F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
      cd11628
      Location:341421
      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:483539
      SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like
    2. NM_001164473.2NP_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)
      AK000282, AK299760, AY514449, DW423801
      Consensus CDS
      CCDS53343.1
      UniProtKB/Swiss-Prot
      Q5T0N5
      UniProtKB/TrEMBL
      B4DSI7
      Related
      ENSP00000271234.7, ENST00000271234.11
      Conserved Domains (3) summary
      cd07675
      Location:5256
      F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
      cd11628
      Location:399479
      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:541597
      SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like
    3. NM_017737.5NP_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:5256
      F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
      cd11628
      Location:341421
      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:483539
      SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      93448067..93569671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541625.2XP_011539927.1  formin-binding protein 1-like isoform X1

      Conserved Domains (3) summary
      cd07675
      Location:5256
      F-BAR_FNBP1L; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 1-Like
      cd11628
      Location:341421
      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:483539
      SH3_FNBP1L; Src Homology 3 domain of Formin Binding Protein 1-Like
    2. XM_017001533.1XP_016857022.1  formin-binding protein 1-like isoform X2

    RNA

    1. XR_001737248.1 RNA Sequence

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