Aliases for FBF1 Gene

Aliases for FBF1 Gene

  • Fas Binding Factor 1 2 3 5
  • FBF-1 2 3 4
  • Fas (TNFRSF6) Binding Factor 1 2 3
  • Fas-Binding Factor 1 3 4
  • Protein Albatross 3 4
  • Albatross 2 3
  • KIAA1863 2 4
  • ALB 2 4
  • Fas Binding Protein 1 3
  • FLJ00103 2
  • FBF1 5
  • Alb 3

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. Diseases associated with FBF1 include Haverhill Fever and Hydrolethalus Syndrome 1. 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.

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 627 +0.1 133 1.8 HNRNPL GATAD2A PRDM10 RFX1 SIX5 IKZF1 NFKBIZ POLR2A RCOR2 BACH1 FBF1 lnc-ACOX1-1 ENSG00000267342 TRIM65 UNK NUP85 ENSG00000267543 MRPL38 ENSG00000267546 RN7SL573P
GH17J075926 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 618.9 +14.1 14092 1.9 CTCF ATF7 CREB1 POLR2A RAD21 HNF4A THAP11 ZNF143 ATF2 ZNF48 FBF1 GALR2 ZACN SRP68 ENSG00000267543 ENSG00000267426 MRPL38 lnc-SRP68-1
GH17J075920 Promoter/Enhancer 0.6 EPDnew Ensembl 612.7 +20.8 20839 0.6 HNRNPL FBF1 UNC13D SRP68 ZACN GALR2 WBP2 EXOC7 TRIM65 ENSG00000267426 MRPL38
GH17J075914 Promoter 0.3 EPDnew 612.7 +26.9 26871 0.1 FBF1 WBP2 UNC13D EXOC7 MRPL38 ENSG00000267426 lnc-SRP68-1
GH17J075929 Promoter 0.3 EPDnew 600.4 +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

Genomic Locations for FBF1 Gene
chr17:75,909,574-75,941,140
(GRCh38/hg38)
Size:
31,567 bases
Orientation:
Minus strand
chr17:73,905,655-73,937,221
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB84871.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

GenScript: Design optimal peptide antigens:
  • Protein albatross (FBF1_HUMAN)
  • Fas (TNFRSF6) binding factor 1 (Q8IZ48_HUMAN)
genes like me logo Genes that share domains with FBF1: view

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

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 Fbf1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for FBF1 Gene

miRTarBase miRNAs that target FBF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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 4
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBF1 Gene

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 --
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 IEA,IMP 23348840
GO:0090162 establishment of epithelial cell polarity IEA,IMP 18838552
GO:0097711 ciliary basal body-plasma membrane 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

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBF1

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

Expression for FBF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FBF1 Gene



Protein tissue co-expression partners for FBF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Nervous system(4.4)
  • Muscle(4.3)
  • Lung(4.3)
  • Spleen(4.1)
  • Skin(2.8)
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 30 31
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FBF1 30 31
  • 82.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBF1 30 31
  • 82.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbf1 30
  • 76.55 (n)
Mouse
(Mus musculus)
Mammalia Fbf1 30 17 31
  • 76.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FBF1 31
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FBF1 31
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBF1 30 31
  • 63.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBF1 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fbf1 30
  • 58.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii FBF1 (2 of 2) 31
  • 42 (a)
OneToMany
FBF1 (1 of 2) 31
  • 38 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG5964 31
  • 18 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBF1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1135889 - p.Gly65Val
rs2305913 - p.Arg151Gly
rs7213548 - p.Cys574Ser
rs7218738 - p.Pro371Ser

Additional dbSNP identifiers (rs#s) for FBF1 Gene

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)

Additional Variant Information for FBF1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FBF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
haverhill fever
  • streptobacillary fever
hydrolethalus syndrome 1
  • hls1
nephronophthisis 18
  • nphp18
spinocerebellar ataxia 11
  • sca11
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search FBF1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with FBF1: view

No data available for 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
  2. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos BE … Tsou MF (Genes & development 2013) 3 4
  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
  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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for FBF1 Gene

Sources for FBF1 Gene