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

Summary

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 centriole; centrosome; and spindle pole. Part of ciliary transition fiber. Colocalizes with apical junction complex and keratin filament. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 17q25.1

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75909574..75941042, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76802728..76834194, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73905655..73937123, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FBF1 deficiency promotes beiging and healthy expansion of white adipose tissue.
Title: FBF1 deficiency promotes beiging and healthy expansion of white adipose tissue.
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.
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.
Keratins and the keratin-binding protein Albatross are important for epithelial cell polarization.
Title: The keratin-binding protein Albatross regulates polarization of epithelial cells.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34016 (e-PCR)
- UniSTS:60779

RH16429 (e-PCR)
- UniSTS:59805

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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

75909574..75941042 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.