FNBP1L

FNBP1L
Identifiers
Aliases	FNBP1L, C1orf39, TOCA1, formin binding protein 1 like
External IDs	OMIM: 608848; MGI: 1925642; GeneCards: FNBP1L
Gene location (Human) Chr. Chromosome 1 (human) Band 1p22.1 Start 93,448,118 bp End 93,554,661 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 G1 Start 122,332,368 bp End 122,413,364 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence amniotic fluid ventricular zone glomerulus metanephric glomerulus renal medulla parotid gland jejunal mucosa visceral pleura hair follicle Top expressed in hand superior cervical ganglion trigeminal ganglion medial ganglionic eminence otic vesicle primary oocyte medullary collecting duct secondary oocyte fossa renal corpuscle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding lipid binding GTPase binding cadherin binding Cellular component cytoplasm membrane plasma membrane cell cortex cytoskeleton cytoplasmic vesicle cytosol Biological process endocytosis vesicle organization membrane invagination plasma membrane tubulation autophagy clathrin-dependent endocytosis vesicle budding from membrane vesicle transport along actin filament positive regulation of filopodium assembly cilium assembly membrane organization Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 54874 214459 Ensembl ENSG00000137942 ENSMUSG00000039735 UniProt Q5T0N5 Q8K012 RefSeq (mRNA) NM_001024948 NM_001164473 NM_017737 NM_001114665 NM_153118 RefSeq (protein) NP_001020119 NP_001157945 NP_060207 n/a Location (UCSC) Chr 1: 93.45 – 93.55 Mb Chr 3: 122.33 – 122.41 Mb PubMed search
Wikidata
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Formin-binding protein 1-like is a protein that in humans is encoded by the FNBP1L gene.

Function

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.

Clinical significance

FNBP1L polymorphisms, specifically the SNP rs236330 has been associated with normally varying intelligence differences in adults and in children.