Human Gene FNBP1 (ENST00000446176.7) from GENCODE V44
  Description: Homo sapiens formin binding protein 1 (FNBP1), transcript variant 1, mRNA. (from RefSeq NM_015033)
RefSeq Summary (NM_015033): The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000446176.7
Gencode Gene: ENSG00000187239.19
Transcript (Including UTRs)
   Position: hg38 chr9:129,887,187-130,043,189 Size: 156,003 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr9:129,890,539-130,042,975 Size: 152,437 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:129,887,187-130,043,189)mRNA (may differ from genome)Protein (617 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FNBP1_HUMAN
DESCRIPTION: RecName: Full=Formin-binding protein 1; AltName: Full=Formin-binding protein 17; Short=hFBP17;
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: Self; NbExp=3; IntAct=EBI-1111248, EBI-1111248; Q05193:DNM1; NbExp=5; IntAct=EBI-1111248, EBI-713135; O95166:GABARAP; NbExp=2; IntAct=EBI-1111248, EBI-712001; O60749:SNX2; NbExp=4; IntAct=EBI-1111248, EBI-1046690; O95271:TNKS; NbExp=4; IntAct=EBI-1111248, EBI-1105254;
SUBCELLULAR LOCATION: 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.
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.
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: Note=A chromosomal aberration involving FNBP1 is found in acute leukemias. Translocation t(9;11)(q34;q23) with MLL. The relatively low incidence of the MLL-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.
SIMILARITY: Contains 1 FCH domain.
SIMILARITY: Contains 1 REM (Hr1) repeat.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=AAH62463.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAK49824.1; Type=Erroneous initiation; Sequence=BAA25480.1; Type=Erroneous initiation; Sequence=BAA91451.1; Type=Erroneous initiation; Sequence=CAI12149.1; Type=Erroneous gene model prediction; Sequence=CAI12150.1; Type=Erroneous gene model prediction; Sequence=CAI13910.1; Type=Erroneous gene model prediction; Sequence=CAI13911.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FBP17ID353.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FNBP1
Diseases sorted by gene-association score: familial hypocalciuric hypercalcemia (7), persistent hyperplastic primary vitreous (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 151.79 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1235.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -112.00214-0.523 Picture PostScript Text
3' UTR -1137.603352-0.339 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001060 - FCH
IPR001452 - SH3_domain

Pfam Domains:
PF00611 - Fes/CIP4, and EFC/F-BAR homology domain
PF00018 - SH3 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EFL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96RU3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0042802 identical protein binding

Biological Process:
GO:0006897 endocytosis
GO:0061024 membrane organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0005938 cell cortex
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AB011126 - Homo sapiens KIAA0554 mRNA for KIAA0554 protein.
BC101755 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:126804 IMAGE:8069261), complete cds.
BC143513 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:177039 IMAGE:9052022), complete cds.
BC143515 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:177041 IMAGE:9052024), complete cds.
BC143514 - Homo sapiens formin binding protein 1, mRNA (cDNA clone MGC:177040 IMAGE:9052023), complete cds.
AK023681 - Homo sapiens cDNA FLJ13619 fis, clone PLACE1010926, weakly similar to HYPOTHETICAL 72.2 KD PROTEIN C12C2.05C IN CHROMOSOME II.
AB383906 - Synthetic construct DNA, clone: pF1KSDA0554, Homo sapiens FNBP1 gene for formin-binding protein 1, complete cds, without stop codon, in Flexi system.
AF265550 - Homo sapiens formin-binding protein 17 (FBP17) mRNA, partial cds.
BC062463 - Homo sapiens formin binding protein 1, mRNA (cDNA clone IMAGE:6527319), partial cds.
AL049935 - Homo sapiens mRNA; cDNA DKFZp564O1116 (from clone DKFZp564O1116).
AK090963 - Homo sapiens cDNA FLJ33644 fis, clone BRAMY2023852.
AK293743 - Homo sapiens cDNA FLJ59670 complete cds, highly similar to Homo sapiens formin binding protein 1 (FNBP1), mRNA.
BC018159 - Homo sapiens, clone IMAGE:3861911, mRNA.
AY952886 - Homo sapiens antigen MMSA-5 mRNA sequence.
BC009262 - Homo sapiens formin binding protein 1, mRNA (cDNA clone IMAGE:3928577), partial cds.
JD528556 - Sequence 509580 from Patent EP1572962.
JD250312 - Sequence 231336 from Patent EP1572962.
JD396474 - Sequence 377498 from Patent EP1572962.
JD074468 - Sequence 55492 from Patent EP1572962.
JD036640 - Sequence 17664 from Patent EP1572962.
JD521842 - Sequence 502866 from Patent EP1572962.
JD263607 - Sequence 244631 from Patent EP1572962.
JD087957 - Sequence 68981 from Patent EP1572962.
JD415929 - Sequence 396953 from Patent EP1572962.
JD162067 - Sequence 143091 from Patent EP1572962.
JD114078 - Sequence 95102 from Patent EP1572962.
JD104911 - Sequence 85935 from Patent EP1572962.
JD038646 - Sequence 19670 from Patent EP1572962.
JD433960 - Sequence 414984 from Patent EP1572962.
JD305665 - Sequence 286689 from Patent EP1572962.
JD327820 - Sequence 308844 from Patent EP1572962.
JD418297 - Sequence 399321 from Patent EP1572962.
JD086836 - Sequence 67860 from Patent EP1572962.
JD482236 - Sequence 463260 from Patent EP1572962.
JD496222 - Sequence 477246 from Patent EP1572962.
JD111137 - Sequence 92161 from Patent EP1572962.
JD234338 - Sequence 215362 from Patent EP1572962.
JD336992 - Sequence 318016 from Patent EP1572962.
JD179619 - Sequence 160643 from Patent EP1572962.
JD215263 - Sequence 196287 from Patent EP1572962.
JD231733 - Sequence 212757 from Patent EP1572962.
JD343694 - Sequence 324718 from Patent EP1572962.
JD054057 - Sequence 35081 from Patent EP1572962.
JD364357 - Sequence 345381 from Patent EP1572962.
JD415089 - Sequence 396113 from Patent EP1572962.
JD069818 - Sequence 50842 from Patent EP1572962.
JD379847 - Sequence 360871 from Patent EP1572962.
JD513996 - Sequence 495020 from Patent EP1572962.
JD151009 - Sequence 132033 from Patent EP1572962.
JD220951 - Sequence 201975 from Patent EP1572962.
JD409334 - Sequence 390358 from Patent EP1572962.
JD321757 - Sequence 302781 from Patent EP1572962.
JD418054 - Sequence 399078 from Patent EP1572962.
JD465158 - Sequence 446182 from Patent EP1572962.
JD418053 - Sequence 399077 from Patent EP1572962.
JD524250 - Sequence 505274 from Patent EP1572962.
JD418631 - Sequence 399655 from Patent EP1572962.
JD336348 - Sequence 317372 from Patent EP1572962.
JD122004 - Sequence 103028 from Patent EP1572962.
JD227456 - Sequence 208480 from Patent EP1572962.
JD311283 - Sequence 292307 from Patent EP1572962.
JD251238 - Sequence 232262 from Patent EP1572962.
JD526732 - Sequence 507756 from Patent EP1572962.
JD205605 - Sequence 186629 from Patent EP1572962.
JD101337 - Sequence 82361 from Patent EP1572962.
JD090069 - Sequence 71093 from Patent EP1572962.
JD141063 - Sequence 122087 from Patent EP1572962.
JD057243 - Sequence 38267 from Patent EP1572962.
JD423686 - Sequence 404710 from Patent EP1572962.
JD059305 - Sequence 40329 from Patent EP1572962.
JD115880 - Sequence 96904 from Patent EP1572962.
JD462522 - Sequence 443546 from Patent EP1572962.
JD378377 - Sequence 359401 from Patent EP1572962.
JD390602 - Sequence 371626 from Patent EP1572962.
JD496478 - Sequence 477502 from Patent EP1572962.
JD282538 - Sequence 263562 from Patent EP1572962.
JD520932 - Sequence 501956 from Patent EP1572962.
AK001616 - Homo sapiens cDNA FLJ10754 fis, clone NT2RP3004544, highly similar to Homo sapiens mRNA for KIAA0554 protein.
BC094851 - Homo sapiens cDNA clone IMAGE:6278345.
AK000975 - Homo sapiens cDNA FLJ10113 fis, clone HEMBA1002768, weakly similar to Homo sapiens mRNA for Cdc42-interacting protein 4.
JD217394 - Sequence 198418 from Patent EP1572962.
JD309480 - Sequence 290504 from Patent EP1572962.
JD560405 - Sequence 541429 from Patent EP1572962.
JD475532 - Sequence 456556 from Patent EP1572962.
JD352767 - Sequence 333791 from Patent EP1572962.
JD448257 - Sequence 429281 from Patent EP1572962.
JD178091 - Sequence 159115 from Patent EP1572962.
JD458410 - Sequence 439434 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96RU3 (Reactome details) participates in the following event(s):

R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000446176.1, ENST00000446176.2, ENST00000446176.3, ENST00000446176.4, ENST00000446176.5, ENST00000446176.6, FBP17, FNBP1_HUMAN, KIAA0554, NM_015033, O60301, Q3MIN8, Q5TC87, Q5TC88, Q6P658, Q7LGG2, Q96RU3, Q9H8H8, Q9NWD1, uc004byw.1, uc004byw.2, uc004byw.3
UCSC ID: ENST00000446176.7
RefSeq Accession: NM_015033
Protein: Q96RU3 (aka FNBP1_HUMAN)
CCDS: CCDS48040.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.