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    FBF1 Fas binding factor 1 [ Homo sapiens (human) ]

    Gene ID: 85302, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FBF1provided by HGNC
    Official Full Name
    Fas binding factor 1provided by HGNC
    Primary source
    HGNC:HGNC:24674
    See related
    Ensembl:ENSG00000188878 MIM:616807; AllianceGenome:HGNC:24674
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Alb; FBF-1
    Summary
    Involved in apical junction assembly and establishment of epithelial cell polarity. Acts upstream of or within cilium assembly. Located in apical junction complex and cytoskeleton. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 14.5), skin (RPKM 4.2) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBF1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75909574..75941042, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76802728..76834194, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73905655..73937123, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73892749-73893458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73893459-73894166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8997 Neighboring gene mitochondrial ribosomal protein L38 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73906944-73907104 Neighboring gene Sharpr-MPRA regulatory region 10813 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73917188-73918387 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73921784-73922983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12784 Neighboring gene acyl-CoA oxidase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73966147-73966266 Neighboring gene hESC enhancers GRCh37_chr17:73974421-73975004 and GRCh37_chr17:73975005-73975588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73979473-73980302 Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene TEN1 subunit of CST complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12788 Neighboring gene uncharacterized LOC124904061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12789

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel protein (Fbf-1) that binds to CD95/APO-1/FAS and shows sequence similarity to trichohyalin and plectin. Schmidt T, et al. Biochim Biophys Acta, 2000 Sep 7. PMID 10978533
    2. Albatross/FBF1 contributes to both centriole duplication and centrosome separation. Inoko A, et al. Genes Cells, 2018 Dec. PMID 30318703
    3. The keratin-binding protein Albatross regulates polarization of epithelial cells. Sugimoto M, et al. J Cell Biol, 2008 Oct 6. PMID 18838552, Free PMC Article
    4. Analysis of genetic polymorphisms associated with leukoaraiosis in the southern Chinese population: A case-control study. Huang WQ, et al. Medicine (Baltimore), 2016 Aug. PMID 27583843, Free PMC Article
    5. Centriole distal appendages promote membrane docking, leading to cilia initiation. Tanos BE, et al. Genes Dev, 2013 Jan 15. PMID 23348840, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBF1 deficiency promotes beiging and healthy expansion of white adipose tissue.
      Title: FBF1 deficiency promotes beiging and healthy expansion of white adipose tissue.
    2. Albatross is a novel protein that spatiotemporally integrates different aspects of centrosome function, namely ciliogenesis, centriole duplication, and centrosome separation.
      Title: Albatross/FBF1 contributes to both centriole duplication and centrosome separation.
    3. These results suggest that rs1135889 in FBF1 is not associated with leukoaraiosis (LA) risk in the Chinese population. However, the association of rs1135889 (FBF1) with LA before Bonferroni correction and Sidak correction is worth highlighting.
      Title: Analysis of genetic polymorphisms associated with leukoaraiosis in the southern Chinese population: A case-control study.
    4. Keratins and the keratin-binding protein Albatross are important for epithelial cell polarization.
      Title: The keratin-binding protein Albatross regulates polarization of epithelial cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MRPL38

    Homology

    Clone Names

    • FLJ00103, FLJ13996, KIAA1863

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apical junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of epithelial cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with apical junction complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ciliary transition fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with keratin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fas-binding factor 1
    Names
    Fas (TNFRSF6) binding factor 1
    Fas binding protein 1
    albatross
    protein albatross

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001319193.2 → NP_001306122.1  fas-binding factor 1

      Status: VALIDATED

      Source sequence(s)
      AC087289
      Consensus CDS
      CCDS45779.2
      UniProtKB/Swiss-Prot
      B5MEM5, Q8TES7, Q96IF6, Q96JG4, Q96MA8
      Related
      ENSP00000490726.1, ENST00000636174.2
      Conserved Domains (2) summary
      pfam08286
      Location:932 → 987
      Spc24; Spc24 subunit of Ndc80
      pfam14988
      Location:787 → 976
      DUF4515; Domain of unknown function (DUF4515)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75909574..75941042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76802728..76834194 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080542.1: Suppressed sequence

      Description
      NM_001080542.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TES7.2 GenPept UniProtKB/Swiss-Prot:Q8TES7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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