Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23048
Gene name Gene Name - the full gene name approved by the HGNC.
Formin binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FNBP1
Synonyms (NCBI Gene) Gene synonyms aliases
FBP17
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021456 hsa-miR-9-5p Microarray 17612493
MIRT022054 hsa-miR-128-3p Microarray 17612493
MIRT026653 hsa-miR-192-5p Microarray 19074876
MIRT030906 hsa-miR-21-5p Microarray 18591254
MIRT051078 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11438682, 14596906, 15252009, 16318909, 20562859, 26751515
GO:0005764 Component Lysosome IEA
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606191 17069 ENSG00000187239
Protein
UniProt ID Q96RU3
Protein name Formin-binding protein 1 (Formin-binding protein 17) (hFBP17)
Protein 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. B
PDB 2EFL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 10 89 Fes/CIP4, and EFC/F-BAR homology domain Family
PF14604 SH3_9 557 607 Variant SH3 domain Domain
Tissue specificity 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
Sequence
MSWGTELWDQFDNLEKHTQWGIDILEKYIKFVKERTEIELSYAKQLRNLSKKYQPKKNSK
EEEEYKYTSCKAFISNLNEMNDYAGQHEV
ISENMASQIIVDLARYVQELKQERKSNFHDG
RKAQQHIETCWKQLESSKRRFERDCKEADRAQQYFEKMDADINVTKADVEKARQQAQIRH
QMAEDSKADYSSILQKFNHEQHEYYHTHIPNIFQKIQEMEERRIVRMGESMKTYAEVDRQ
VIPIIGKCLDGIVKAAESIDQKNDSQLVIEAYKSGFEPPGDIEFEDYTQPMKRTVSDNSL
SNSRGEGKPDLKFGGKSKGKLWPFIKKNKLMSLLTSPHQPPPPPPASASPSAVPNGPQSP
KQQKEPLSHRFNEFMTSKPKIHCFRSLKRGLSLKLGATPEDFSNLPPEQRRKKLQQKVDE
LNKEIQKEMDQRDAITKMKDVYLKNPQMGDPASLDHKLAEVSQNIEKLRVETQKFEAWLA
EVEGRLPARSEQARRQSGLYDSQNPPTVNNCAQDRESPDGSYTEEQSQESEMKVLATDFD
DEFDDEEPLPAIGTCKALYTFEGQNEGTISVVEGETLYVIEEDKGDGWTRIRRNEDEEGY
VPTSYVE
VCLDKNAKDS
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Shigellosis   Clathrin-mediated endocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 26301688
Autoimmune diseases Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs869025224 26301688
Common variable immunodeficiency Common Variable Immunodeficiency rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113
View all (35 more)
26301688
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
26301688
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease 26301688 ClinVar
Crohn disease Crohn Disease 26301688 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34998385
Breast Neoplasms Stimulate 32665637
Breast Neoplasms Associate 34998385
Carcinoma Ductal Associate 32665637
Colorectal Neoplasms Associate 37446311
Gardner Syndrome Stimulate 34202606
Leukemia Myeloid Acute Associate 11438682, 31648321
Neoplasms Stimulate 32665637
Neoplasms Associate 34998385
Stomach Neoplasms Associate 34202606, 34998385