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Aliases for FBF1 Gene

Aliases for FBF1 Gene

  • Fas Binding Factor 1 2 3 5
  • Fas (TNFRSF6) Binding Factor 1 2 3
  • Protein Albatross 3 4
  • Albatross 2 3
  • FBF-1 3 4
  • Alb 3 4
  • Fas Binding Protein 1 3
  • Fas-Binding Factor 1 3
  • KIAA1863 4

External Ids for FBF1 Gene

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. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include nucleotide binding.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBF1 Gene

Genomics for FBF1 Gene

Regulatory Elements for FBF1 Gene

Enhancers for FBF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H075903 1.2 ENCODE 37.6 +35.9 35888 2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 FBF1 RN7SL573P UNK TRIM65 ENSG00000264829 HMGN2P43 SRSF2 ENSG00000267801 NUP85 ENSG00000267342
GH17H075842 1.4 ENCODE dbSUPER 25.3 +95.0 95007 8 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 FBF1 MFSD11 ENSG00000266980 METTL23 TRIM65 UNC13D GC17M075847 PIR31894
GH17H075831 1.2 Ensembl ENCODE dbSUPER 25 +107.5 107482 4 SCRT1 SP3 KLF1 MAX GABPA ZFP69B ZFHX2 NFIC POLR2A ZNF341 FBF1 TRIM65 GC17P075840 ENSG00000266980
GH17H075940 1.1 ENCODE 27 +0.0 29 1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FBF1 ENSG00000267342 TRIM65 UNK ENSG00000264829 HMGN2P43 NUP85 ENSG00000267543 MRPL38 ENSG00000267546
GH17H075875 1.4 ENCODE dbSUPER 21.1 +63.9 63916 4 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 FBF1 TRIM65 TRIM47 ACOX1 ENSG00000267801
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBF1 on UCSC Golden Path with GeneCards custom track

Promoters for FBF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098480 240 1001 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for FBF1 Gene

Chromosome:
17
Start:
75,909,574 bp from pter
End:
75,941,140 bp from pter
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:
FBF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.
    SequenceCaution:
    • Sequence=BAB71400.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB84871.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for FBF1 Gene

neXtProt entry for FBF1 Gene

Post-translational modifications for FBF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for FBF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBF1: view

No data available for 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

Gene Ontology (GO) - Molecular Function for FBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18838552
genes like me logo Genes that share ontologies with FBF1: view
genes like me logo Genes that share phenotypes with FBF1: view

Animal Models for FBF1 Gene

MGI Knock Outs for FBF1:
  • Fbf1 tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for FBF1 Gene

miRTarBase miRNAs that target FBF1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FBF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBF1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 21399614
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IDA,IEA 23348840
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FBF1: view

Pathways & Interactions for FBF1 Gene

genes like me logo Genes that share pathways with FBF1: view

Pathways by source for FBF1 Gene

Gene Ontology (GO) - Biological Process for FBF1 Gene

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 IMP,IEA 23348840
GO:0090162 establishment of epithelial cell polarity IEA,IMP 18838552
GO:0097711 ciliary basal body docking TAS --
genes like me logo Genes that share ontologies with FBF1: view

No data available for SIGNOR curated interactions for FBF1 Gene

Drugs & Compounds for FBF1 Gene

No Compound Related Data Available

Transcripts for FBF1 Gene

Unigene Clusters for FBF1 Gene

Fas (TNFRSF6) binding factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FBF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for FBF1 Gene

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 ^
SP1:
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
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: - -
SP3:
SP4: -
SP5: -
SP6: - - - -
SP7: - -
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14: - - - - - - -
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 35b ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b · 38c · 38d · 38e ^ 39a · 39b ^ 40 ^ 41a · 41b · 41c ^ 42 ^ 43 ^ 44
SP1: - - - - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - - - - -
SP7:
SP8: - - - - - - - - -
SP9:
SP10: - - - - - - - - -
SP11: - - -
SP12: -
SP13: - - -
SP14:
SP15:
SP16: -
SP17: - - - -
SP18: -
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for FBF1 Gene

GeneLoc Exon Structure for
FBF1
ECgene alternative splicing isoforms for
FBF1

Expression for FBF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBF1 Gene

This gene is overexpressed in Testis (x4.9).

Protein differential expression in normal tissues from HIPED for FBF1 Gene

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, PaxDb, MaxQB, and MOPED for FBF1 Gene



Protein tissue co-expression partners for FBF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBF1 Gene:

FBF1

SOURCE GeneReport for Unigene cluster for FBF1 Gene:

Hs.720068

mRNA 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

  • Lung(4.1)
  • Spleen(4.1)
  • Nervous system(4.1)
  • Muscle(4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with FBF1: view

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.

Orthologs for FBF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBF1 33 34
  • 99.06 (n)
dog
(Canis familiaris)
Mammalia FBF1 33 34
  • 82.39 (n)
cow
(Bos Taurus)
Mammalia FBF1 33 34
  • 82.01 (n)
rat
(Rattus norvegicus)
Mammalia Fbf1 33
  • 76.55 (n)
mouse
(Mus musculus)
Mammalia Fbf1 33 16 34
  • 76.3 (n)
oppossum
(Monodelphis domestica)
Mammalia FBF1 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBF1 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBF1 33 34
  • 63.68 (n)
lizard
(Anolis carolinensis)
Reptilia FBF1 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbf1 33
  • 58.33 (n)
zebrafish
(Danio rerio)
Actinopterygii FBF1 (2 of 2) 34
  • 42 (a)
OneToMany
FBF1 (1 of 2) 34
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5964 34
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for FBF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FBF1 Gene

No data available for Paralogs for FBF1 Gene

Variants for FBF1 Gene

Sequence variations from dbSNP and Humsavar for FBF1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000061592 -- 75,932,103(+) TGGCC(A/T)GGCGC intron-variant
rs1000159244 -- 75,936,237(+) TGAAC(C/T)CGGGT intron-variant
rs1000209239 -- 75,913,407(+) CTGCC(A/G)AAAGT intron-variant
rs1000223305 -- 75,937,854(+) CAAAC(C/T)CTCCC intron-variant
rs1000678859 -- 75,937,702(+) GGCAA(G/T)AGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBF1 Gene

Variant ID Type Subtype PubMed ID
esv3641270 CNV gain 21293372
esv3641271 CNV gain 21293372
nsv833545 CNV gain 17160897

Variation tolerance for FBF1 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBF1 Gene

Disorders for FBF1 Gene

Relevant External Links for FBF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBF1

No disorders were found for FBF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBF1 Gene

Publications for FBF1 Gene

  1. 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 60
  2. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos BE … Tsou MF (Genes & development 2013) 3 4 60
  3. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 3 4 60
  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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for FBF1 Gene

Sources for FBF1 Gene

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