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

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; 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

Location:: 1p22.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (93448118..93554661)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (93293865..93400393)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (93913675..94020218)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
the Toca-1-N-WASP complex can link filopodial formation to endocytosis
Title: The Toca-1-N-WASP complex links filopodial formation to endocytosis.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482065

NoName (e-PCR)
- UniSTS:481574

SHGC-75167 (e-PCR)
- UniSTS:65155

GDB:451589 (e-PCR)
- UniSTS:157320

GDB:451598 (e-PCR)
- UniSTS:157322

SHGC-75173 (e-PCR)
- UniSTS:59283

NoName (e-PCR)
- UniSTS:489886

G13388 (e-PCR)
- UniSTS:66270

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	HDA more info	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)

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
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
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