Reactome | UniProt:Q96RU3 FNBP1

Schema > ReferenceGeneProduct > Entries

UniProt:Q96RU3 FNBP1 Show undefined attributes

chain	chain:1-617
checksum	F06E847C6E631EC3
comment	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.SUBUNIT Interacts specifically with GTP-bound RND2 and CDC42. Interacts with PDE6G and microtubules (By similarity). Homodimerizes, the dimers can polymerize end-to-end to form filamentous structures. Interacts with AKAP9, ARHGAP17, DAAM1, DIAPH1, DIAPH2, DNM1, DNM2, DNM3, FASLG/FASL, SNX2 and WASL/N-WASP. May interact with TNKS.INTERACTION Enriched in cortical regions coincident with F-actin. Also localizes to endocytic vesicles and lysosomes.ALTERNATIVE PRODUCTS 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.DOMAIN The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation.DISEASE 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.SIMILARITY Belongs to the FNBP1 family.SEQUENCE CAUTION Contaminating sequence. Potential poly-A sequence.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12406548] RefSeq:NP_001425971.1 [DatabaseIdentifier:12406549] RefSeq:NP_001350684.1 [DatabaseIdentifier:12406547] RefSeq:NP_055848.1 [DatabaseIdentifier:12406550] RefSeq:NP_001425969.1 [DatabaseIdentifier:12283477] Pharos - Targets:Q96RU3 [DatabaseIdentifier:12242163] PRO:Q96RU3 [DatabaseIdentifier:12166640] PDB:2EFL [DatabaseIdentifier:12123158] OpenTargets:ENSG00000187239 [DatabaseIdentifier:11838646] HPA:ENSG00000187239-FNBP1 [DatabaseIdentifier:11833954] HMDB Protein:HMDBP08396 [DatabaseIdentifier:11785562] GeneCards:FNBP1 [DatabaseIdentifier:11717847] ENSEMBL:ENST00000703532 [DatabaseIdentifier:11717849] ENSEMBL:ENST00000446176 [DatabaseIdentifier:11717848] ENSEMBL:ENST00000355681 [DatabaseIdentifier:11595150] ENSEMBL:ENSP00000347907 [DatabaseIdentifier:11595149] ENSEMBL:ENSP00000515358 [DatabaseIdentifier:11595148] ENSEMBL:ENSP00000413625 [DatabaseIdentifier:11489312] ENSEMBL:ENSG00000187239
databaseName	UniProt
dbId	229758
description	recommendedName: Formin-binding protein 1 alternativeName: Formin-binding protein 17 shortName: hFBP17
displayName	UniProt:Q96RU3 FNBP1
geneName	FNBP1 FBP17 KIAA0554
identifier	Q96RU3
isSequenceChanged	false
keyword	3D-structure Acetylation Alternative splicing Cell membrane Chromosomal rearrangement Coated pit Coiled coil Cytoplasm Cytoplasmic vesicle Cytoskeleton Endocytosis Lipid-binding Lysosome Membrane Phosphoprotein Proteomics identification Reference proteome SH3 domain
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	FNBP1
otherIdentifier	11727111_a_at 11748149_a_at 17099114 212288_PM_at 212288_at 213940_PM_s_at 213940_s_at 230389_at 23048 3227156 3227158 3227160 3227161 3227162 3227163 3227164 3227165 3227166 3227167 3227170 3227171 3227172 3227173 3227176 3227178 3227179 3227183 3227189 3227191 3227192 3227198 3227199 3227200 3227204 3227205 3227206 3227207 3227208 3227209 3227220 3227221 3227228 3227229 3227230 3227233 3227234 3227250 40468_at 62267_at 8164607 81825_at A_24_P205130 A_33_P3367565 GE55848 GE56205 GE792967 GE86710 GO:0005515 GO:0005737 GO:0005764 GO:0005829 GO:0005856 GO:0005886 GO:0005905 GO:0005938 GO:0006897 GO:0007165 GO:0008289 GO:0016020 GO:0016192 GO:0031410 GO:0042802 HMNXSV003024880 HMNXSV003052926 Hs.301763.1.S1_3p_a_at Hs.301763.2.S1_3p_at ILMN_1797342 PH_hs_0025807 TC09001656.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-8862261] FNBP1 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12697469] UCSC:Q96RU3 FNBP1 [ReferenceDNASequence:12108704] OMIM:606191 FNBP1 [ReferenceDNASequence:12068439] NCBI Gene:23048 FNBP1 [ReferenceDNASequence:11984346] Monarch:23048 FNBP1 [ReferenceDNASequence:11894100] KEGG:hsa:23048 FNBP1 [ReferenceDNASequence:11817191] HGNC:17069 FNBP1 [ReferenceDNASequence:11430007] dbSNP Gene:23048 FNBP1 [ReferenceDNASequence:11410136] CTD Gene:23048 FNBP1 [ReferenceDNASequence:11393973] COSMIC - genes:FNBP1 FNBP1 [ReferenceDNASequence:11354557] BioGPS Gene:23048 FNBP1 [ReferenceDNASequence:ensembl:ENSG00000187239] ENSEMBL:ENSG00000187239 FNBP1
referenceTranscript	[ReferenceRNASequence:12588241] RefSeq:NM_001439042.1 FNBP1 [ReferenceRNASequence:12588239] RefSeq:NM_001439040.1 FNBP1 [ReferenceRNASequence:12588240] RefSeq:NM_001363755.1 FNBP1 [ReferenceRNASequence:12588238] RefSeq:NM_015033.3 FNBP1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	FNBP1_HUMAN B7ZL12 E9PGQ4 O60301 Q3MIN8 Q5TC87 Q5TC88 Q6P658 Q7LGG2 Q9H8H8 Q9NWD1
sequenceLength	617
species	[Species:48887] Homo sapiens
stId	uniprot:Q96RU3
url	http://purl.uniprot.org/uniprot/Q96RU3

Referrals

(interactor)	[UndirectedInteraction:11249531] UniProt:P97573 <-> UniProt:Q96RU3 (IntAct) [UndirectedInteraction:11247661] UniProt:Q05193 <-> UniProt:Q96RU3 (IntAct) [UndirectedInteraction:11208469] UniProt:P50570 <-> UniProt:Q96RU3 (IntAct) [UndirectedInteraction:11204467] UniProt:P48023 <-> UniProt:Q96RU3 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-8862261] FNBP1 [cytosol]