Homo sapiens Protein: FNBP1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-89360.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | FNBP1 | ||||||||||||||||||||||
Protein Name | formin binding protein 1 | ||||||||||||||||||||||
Synonyms | FBP17; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000347907 | ||||||||||||||||||||||
InnateDB Gene | IDBG-89354 (FNBP1) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
Function | May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL. {ECO:0000250, ECO:0000269PubMed:15252009, ECO:0000269PubMed:16318909, ECO:0000269PubMed:16326391, ECO:0000269PubMed:16418535, ECO:0000269PubMed:17512409}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Lysosome. Cytoplasmic vesicle. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Enriched in cortical regions coincident with F-actin. Also localizes to endocytic vesicles and lysosomes. | ||||||||||||||||||||||
Disease Associations | Note=A chromosomal aberration involving FNBP1 is found in acute leukemias. Translocation t(9;11)(q34;q23) with KMT2A/MLL1. The relatively low incidence of the KMT2A/MLL1-FNBP1 fusion protein in acute leukemia may reflect the marginal capacity of this fusion protein to induce cellular transformation. | ||||||||||||||||||||||
Tissue Specificity | Very highly expressed in the epithelial cells of the gastrointestinal tract, respiratory, reproductive and urinary systems. Also highly expressed in brown adipose tissue, cardiomyocytes, enteric ganglia and glucagon producing cells of the pancreas. Expressed in germ cells of the testis and all regions of the brain. {ECO:0000269PubMed:11438682, ECO:0000269PubMed:15252009}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001060
FCH domain IPR001452 SH3 domain IPR002583 Ribosomal protein S20 IPR011072 HR1 rho-binding repeat IPR011511 Variant SH3 domain |
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PFAM |
PF00611
PF00018 PF14604 PF01649 PF02185 PF07653 |
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PRINTS |
PR00452
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PIRSF | |||||||||||||||||||||||
SMART |
SM00055
SM00326 SM00742 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q96RU3 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q96RU3 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 23048 | ||||||||||||||||||||||
UniGene | Hs.627895 | ||||||||||||||||||||||
RefSeq | XP_005251886 | ||||||||||||||||||||||
HUGO | HGNC:17069 | ||||||||||||||||||||||
OMIM | 606191 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 10446 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB011126 AF265550 AK000975 AK023681 AL136141 AL158207 BC062463 BC101755 | ||||||||||||||||||||||
GenPept | AAH62463 AAI01756 AAK49824 BAA25480 BAA91451 BAB14638 CAI12149 CAI12150 CAI13910 CAI13911 | ||||||||||||||||||||||