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Aliases for FBF1 Gene
Aliases for FBF1 Gene
External Ids for FBF1 Gene
- HGNC: 24674
- NCBI Entrez Gene: 85302
- Ensembl: ENSG00000188878
- OMIM®: 616807
- UniProtKB/Swiss-Prot: Q8TES7
Previous GeneCards Identifiers for FBF1 Gene
- GC17M074503
- GC17M071417
- GC17M073905
- GC17M069332
Summaries for FBF1 Gene
GeneCards Summary for FBF1 Gene
FBF1 (Fas Binding Factor 1) is a Protein Coding gene. Diseases associated with FBF1 include Hydrolethalus Syndrome 1 and Nephronophthisis 18. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include nucleotide binding.
UniProtKB/Swiss-Prot Summary for FBF1 Gene
-
Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis.
Additional gene information for FBF1 Gene
- HGNC (24674)
- NCBI Entrez Gene (85302)
- Ensembl (ENSG00000188878)
- OMIM® (616807)
- UniProtKB/Swiss-Prot (Q8TES7)
- Open Targets Platform(ENSG00000188878)
- Search for FBF1 at DataMed
- Search for FBF1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBF1 Gene
Genomics for FBF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FBF1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH17J075940 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 277 | +0.3 | 292 | 2.1 | CHD2 TBP ZBTB10 MXD4 SIX5 MNT IKZF1 SMAD5 ETS1 ZFP64 | FBF1 lnc-ACOX1-1 ENSG00000267342 TRIM65 UNK NUP85 ENSG00000267543 MRPL38 ENSG00000267546 RN7SL573P | |
| GH17J075926 | Promoter/Enhancer | 1.1 | EPDnew Ensembl ENCODE | 268.9 | +14.1 | 14092 | 1.9 | THAP11 CTCF RAD21 ZNF48 ATF2 ZNF143 GABPB1 ZNF644 SMC3 ELF1 | FBF1 GALR2 ZACN SRP68 ENSG00000267543 ENSG00000267426 MRPL38 lnc-SRP68-1 | |
| GH17J075920 | Promoter/Enhancer | 0.6 | EPDnew Ensembl | 262.7 | +20.8 | 20839 | 0.6 | HNRNPL | FBF1 UNC13D GALR2 SRP68 ZACN WBP2 EXOC7 TRIM65 ENSG00000267426 MRPL38 | |
| GH17J075914 | Promoter | 0.3 | EPDnew | 262.7 | +26.9 | 26871 | 0.1 | FBF1 WBP2 UNC13D EXOC7 MRPL38 ENSG00000267426 lnc-SRP68-1 | ||
| GH17J075929 | Promoter | 0.3 | EPDnew | 250.4 | +11.2 | 11174 | 0.1 | ENSG00000267426 FBF1 MRPL38 lnc-SRP68-1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FBF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBF1
- Top Transcription factor binding sites by QIAGEN in the FBF1 gene promoter:
-
- aMEF-2
- AML1a
- FOXD1
- LCR-F1
- MEF-2A
- Nkx2-5
- p53
- Spz1
- SRF
- SRF (504 AA)
Genomic Locations for FBF1 Gene
Latest Assembly
- chr17:75,909,574-75,941,140
- (GRCh38/hg38)
- Size:
- 31,567 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:73,905,655-73,934,313
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 28,659 bases
- Orientation:
- Minus strand
- chr17:73,905,655-73,937,221
- (GRCh37/hg19 by Ensembl)
- Size:
- 31,567 bases
- Orientation:
- Minus strand
Genomic View for FBF1 Gene
Genes around FBF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
FBF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FBF1 Gene
Proteins for FBF1 Gene
-
Protein details for FBF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TES7-FBF1_HUMAN
- Recommended name:
- Fas-binding factor 1
- Protein Accession:
- Q8TES7
- B5MEM5
- Q96IF6
- Q96JG4
- Q96MA8
Protein attributes for FBF1 Gene
- Size:
- 1133 amino acids
- Molecular mass:
- 125446 Da
- Quaternary structure:
-
- May interact with FAS cytoplasmic domain (By similarity). Interacts with PARD3 (By similarity) (PubMed:18838552). Interacts with TRAPPC14 (PubMed:31467083).
- SequenceCaution:
-
- Sequence=BAB71400.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB84871.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for FBF1 Gene
Post-translational modifications for FBF1 Gene
Other Protein References for FBF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ FBF1 Antibody
- Novus Biologicals Antibodies for FBF1
- Invitrogen Antibodies for FBF1 (AFLGC-FBF1)
-
Boster Bio Antibodies for FBF1
- Sino Biological Antibodies for FBF1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FBF1
- Origene Custom Protein Services for FBF1
- Novus Biologicals proteins for FBF1
Assay products for research
- antibodies-online: Show 5 available FBF1 Elisa Kits ranked by validation data
- Compare Top FBF1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FBF1 Gene
Domains & Families for FBF1 Gene
Gene Families for FBF1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for FBF1 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein albatross (FBF1_HUMAN)
- Fas (TNFRSF6) binding factor 1 (Q8IZ48_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBF1 Gene
Function for FBF1 Gene
Molecular function for FBF1 Gene
- UniProtKB/Swiss-Prot Function:
- Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis.
Phenotypes From GWAS Catalog for FBF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18838552 |
Phenotypes for FBF1 Gene
- MGI mutant phenotypes for FBF1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FBF1:
-
- Increased gamma-H2AX phosphorylation
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
Animal Models for FBF1 Gene
- MGI Knock Outs for FBF1:
-
- Fbf1 Fbf1<tm1a(EUCOMM)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FBF1 - Starting at $85 >
- * FBF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FBF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBF1
miRNA for FBF1 Gene
- miRTarBase miRNAs that target FBF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FBF1
- Browse OriGene Inhibitory RNA Products For FBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBF1
Clone products for research
- Applied Biological Materials (abm): Clones for FBF1 - Starting at $45 >
- * FBF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for FBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FBF1
Cell Lines for research
-
Horizon Cell Lines for FBF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBF1 Gene
Localization for FBF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBF1 Gene
- Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Cell junction. Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to the apical junction complex (AJC) in epithelial cells.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 4 |
| nucleus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Centrosome (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA,IDA | 21399614 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IDA | -- |
| GO:0005814 | centriole | IBA,IDA | 23348840 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for FBF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Organelle biogenesis and maintenance |
.56
|
|
| 2 | Regulation of PLK1 Activity at G2/M Transition | ||
Pathways by source for FBF1 Gene
3 Reactome pathways for FBF1 Gene
Interacting Proteins for FBF1 Gene
Selected Interacting proteins:
Q8TES7-FBF1_HUMAN
ENSP00000324292
for FBF1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FBF1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030030 | cell projection organization | IEA | -- |
| GO:0043297 | apical junction assembly | IMP | 18838552 |
| GO:0060271 | cilium assembly | IEA,IMP | 23348840 |
| GO:0090162 | establishment of epithelial cell polarity | IEA,IMP | 18838552 |
| GO:0097711 | ciliary basal body-plasma membrane docking | TAS | -- |
No data available for SIGNOR curated interactions for FBF1 Gene
Transcripts for FBF1 Gene
mRNA/cDNA for FBF1 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000319129 4156 nts (view in UCSC)
- ENST00000585990 4481 nts (view in UCSC)
- ENST00000586112 591 nts (view in UCSC)
- ENST00000586631 621 nts (view in UCSC)
- ENST00000586717 4825 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FBF1 - Starting at $85 >
- * FBF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FBF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FBF1
- Browse OriGene Inhibitory RNA Products For FBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBF1
Clone products for research
- Applied Biological Materials (abm): Clones for FBF1 - Starting at $45 >
- * FBF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for FBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FBF1
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP23: |
| ExUns: | 20 | ^ | 21 | ^ | 22a | · | 22b | · | 22c | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | · | 31c | ^ | 32 | ^ | 33 | ^ | 34a | · | 34b | · | 34c | · | 34d | ^ | 35a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP14: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP22: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP23: |
| ExUns: | 35b | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38a | · | 38b | · | 38c | · | 38d | · | 38e | ^ | 39a | · | 39b | ^ | 40 | ^ | 41a | · | 41b | · | 41c | ^ | 42 | ^ | 43 | ^ | 44 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
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| SP6: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP11: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||
| SP16: | - | ||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP18: | - | ||||||||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||||
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| SP22: | |||||||||||||||||||||||||||||||||||||
| SP23: |
Relevant External Links for FBF1 Gene
- GeneLoc Exon Structure for
- FBF1
Expression for FBF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Outflow Tract
mRNA differential expression in normal tissues according to GTEx for FBF1 Gene
This gene is overexpressed in Testis (x4.9).
This gene is overexpressed in Bone (38.0), Fetal Liver (19.7), and Liver (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBF1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBF1
SOURCE GeneReport for Unigene cluster for FBF1 Gene:
Hs.720068mRNA Expression by UniProt/SwissProt for FBF1 Gene:
Q8TES7-FBF1_HUMAN
Tissue specificity:
Present in various epithelial cells (at protein level).
Evidence on tissue expression from TISSUES for FBF1 Gene
- Nervous system(4.3)
- Lung(4.2)
- Muscle(4.2)
- Spleen(4.1)
Primer products for research
-
OriGene qPCR primer pairs for FBF1
-
OriGene qPCR primer pairs and template standards for FBF1
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FBF1 Gene
Orthologs for FBF1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FBF1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FBF1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FBF1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fbf1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fbf1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FBF1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FBF1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FBF1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FBF1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbf1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | FBF1 (2 of 2) 31 |
|
OneToMany | |
| FBF1 (1 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5964 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for FBF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for FBF1 Gene
- ENSEMBL:
- Gene Tree for FBF1 (if available)
- TreeFam:
- Gene Tree for FBF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FBF1: view image
Paralogs for FBF1 Gene
No data available for Paralogs for FBF1 Gene
Variants for FBF1 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3641270 | CNV | gain | 21293372 |
| esv3641271 | CNV | gain | 21293372 |
| nsv833545 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FBF1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FBF1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBF1 Gene
Disorders for FBF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hydrolethalus syndrome 1 |
|
|
| nephronophthisis 18 |
|
|
| spinocerebellar ataxia 11 |
|
|
| joubert syndrome 1 |
|
|
| nephronophthisis |
|
|
Search FBF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FBF1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for FBF1 Gene
Publications for FBF1 Gene
- Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
- Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos BE … Tsou MF (Genes & development 2013) 3 4
- Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 3 4
- The keratin-binding protein Albatross regulates polarization of epithelial cells. (PMID: 18838552) Sugimoto M … Inagaki M (The Journal of cell biology 2008) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for FBF1 Gene
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- OriGene qPCR primer pairs and template standards for FBF1
- OriGene CRISPR knockouts for FBF1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Human cDNA Clone for FBF1
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- Novus Biologicals proteins for FBF1
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- Invitrogen Antibodies for FBF1 (AFLGC-FBF1)
- VectorBuilder Custom and pre-made DNA vectors for FBF1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for FBF1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for FBF1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for FBF1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for FBF1
- antibodies-online: Show 619 available FBF1 Antibodies ranked by validation data
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- Horizon Cell Lines for FBF1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FBF1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for FBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBF1
- Boster Bio Antibodies for FBF1
- Browse Boster Bio ELISA Kits
Sources for FBF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
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- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (50) miRBase
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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- (80) MaxQB
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- (83) Illumina
- (84) COMPARTMENTS
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- (89) antibodies-online
- (90) CYP
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- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (135) abm
- (136) Human Protein Atlas
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- (140) HumanCyc
- (141) UCNEbase
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- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
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- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
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- (161) ENA
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- (163) LncBase
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- (165) LNCipedia
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