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

    Gene ID: 23219, updated on 3-May-2024

    Summary

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    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

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    See FBXO28 in Genome Data Viewer
    Location:
    1q42.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224114111..224162047)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223303343..223351289)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224301813..224349749)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373061 Neighboring gene uncharacterized LOC105373056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2597 Neighboring gene RN7SK pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2598 Neighboring gene UPF0764 protein C16orf89-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224333093-224333594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224341785-224342286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224342287-224342786 Neighboring gene Sharpr-MPRA regulatory region 12248 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224350114-224350614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224356823-224357792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224357793-224358762 Neighboring gene small nucleolar RNA SNORA72 Neighboring gene zinc finger protein 706 pseudogene

    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
    • 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. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Schneider AL, et al. Epilepsia, 2021 Jan. PMID 33280099
    2. 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. Balak C, et al. Am J Med Genet A, 2018 Jul. PMID 30160831
    3. An SCF(FBXO28) E3 Ligase Protects Pancreatic β-Cells from Apoptosis. Gorrepati KDD, et al. Int J Mol Sci, 2018 Mar 24. PMID 29587369, Free PMC Article
    4. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. Au PY, et al. Am J Med Genet A, 2014 Feb. PMID 24357076
    5. FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination. Liu S, et al. Aging (Albany NY), 2023 Jun 21. PMID 37348029, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
      Title: FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    5. SCF(FBXO28)-mediated self-ubiquitination of FBXO28 promotes its degradation.
      Title: SCF(FBXO28)-mediated self-ubiquitination of FBXO28 promotes its degradation.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10766, KIAA0483

    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)

    1. 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

    2. 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

    1. 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

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      224114111..224162047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      223303343..223351289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVF7.1 GenPept UniProtKB/Swiss-Prot:Q9NVF7

    Gene LinkOut

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

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