FBXO28 F-box protein 28 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXO28provided by HGNC
Official Full Name: F-box protein 28provided by HGNC
Primary source: HGNC:HGNC:29046
See related: Ensembl:ENSG00000143756 MIM:609100; AllianceGenome:HGNC:29046
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: Fbx28; DEE100; CENP-30
Summary: Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in skin (RPKM 11.4), esophagus (RPKM 8.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (224114111..224162047)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (223303343..223351289)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (224301813..224349749)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FBXO28 promotes cell proliferation, migration and invasion via upregulation of the TGF-beta1/SMAD2/3 signaling pathway in ovarian cancer.
Title: FBXO28 promotes cell proliferation, migration and invasion via upregulation of the TGF-beta1/SMAD2/3 signaling pathway in ovarian cancer.
FBXO28 suppresses liver cancer invasion and metastasis by promoting PKA-dependent SNAI2 degradation.
Title: FBXO28 suppresses liver cancer invasion and metastasis by promoting PKA-dependent SNAI2 degradation.
FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination.
Title: FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Title: FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
SCF(FBXO28)-mediated self-ubiquitination of FBXO28 promotes its degradation.
Title: SCF(FBXO28)-mediated self-ubiquitination of FBXO28 promotes its degradation.
FBXO28 is a monogenic disease gene and contributes to the complex neurodevelopmental phenotype of the 1q41-q42 gene deletion syndrome.
Title: A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
It was shown on human primary islets that FBXO28 improves pancreatic beta-cell survival under diabetogenic conditions without affecting insulin secretion.
Title: An SCF(FBXO28) E3 Ligase Protects Pancreatic β-Cells from Apoptosis.
Expression levels of TP53BP2, FBXO28, and FAM53A genes were associated with patient survival specifically in ER-positive, TP53-mutated tumors.
Title: TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.
Fbxo28 regulates topoisomerase IIalpha decatenation activity and plays an important role in maintaining genomic stability.
Title: Fbxo28 promotes mitotic progression and regulates topoisomerase IIα-dependent DNA decatenation.
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Title: Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy 100 MedGen: C5676932 OMIM: 619777 GeneReviews: Not available	not available

Variation

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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

RH103485 (e-PCR)
- UniSTS:97810

SHGC-57931 (e-PCR)
- UniSTS:64844

RH68712 (e-PCR)
- UniSTS:31110

SHGC-76421 (e-PCR)
- UniSTS:55436

SHGC-141518 (e-PCR)
- UniSTS:181954

SHGC-76422 (e-PCR)
- UniSTS:76748

FBXO28__7651 (e-PCR)
- UniSTS:466171

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: F-box only protein 28

Names: centromere protein 30

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_001136115.3 → NP_001129587.1 F-box only protein 28 isoform b

See identical proteins and their annotated locations for NP_001129587.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AL390122

Consensus CDS

CCDS44320.1

UniProtKB/Swiss-Prot

Q9NVF7

Related

ENSP00000416888.2, ENST00000424254.6

Conserved Domains (1) summary

pfam00646
Location:67 → 94

F-box; F-box domain
NM_015176.4 → NP_055991.1 F-box only protein 28 isoform a

See identical proteins and their annotated locations for NP_055991.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AL390122

Consensus CDS

CCDS1539.1

UniProtKB/Swiss-Prot

E9PEM8, O75070, Q9NVF7

Related

ENSP00000355827.5, ENST00000366862.10

Conserved Domains (1) summary

pfam00646
Location:67 → 108

F-box; F-box domain

RNA

NR_049764.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL390122