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

Gene ID: 85302, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 14.5), skin (RPKM 4.2) and 22 other tissues See more
Orthologs
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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)

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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