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    FBXO30 F-box protein 30 [ Homo sapiens (human) ]

    Gene ID: 84085, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FBXO30provided by HGNC
    Official Full Name
    F-box protein 30provided by HGNC
    Primary source
    HGNC:HGNC:15600
    See related
    Ensembl:ENSG00000118496 MIM:609101; AllianceGenome:HGNC:15600
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Fbx30
    Summary
    This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 3.5), testis (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO30 in Genome Data Viewer
    Location:
    6q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (145793502..145814795, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (146986553..147007846, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (146114638..146135931, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378039 Neighboring gene EPM2A divergent transcript Neighboring gene uncharacterized LOC124901419 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:146135340-146135894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25228 Neighboring gene uncharacterized LOC124901420 Neighboring gene SNF2 histone linker PHD RING helicase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25229 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:146285382-146286369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:146350016-146350516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:146350517-146351017 Neighboring gene glutamate metabotropic receptor 1 Neighboring gene FUN14 domain containing 2 pseudogene 3

    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. F-box protein FBXO30 mediates retinoic acid receptor γ ubiquitination and regulates BMP signaling in neural tube defects. Cheng X, et al. Cell Death Dis, 2019 Jul 18. PMID 31320612, Free PMC Article
    2. [Study on the fusion expression of FBXO30: a novel member of F-box protein family]. Li ZH, et al. Hunan Yi Ke Da Xue Xue Bao, 2001 Dec 28. PMID 12536519
    3. [Studies on the relationship between D6S1581, a high frequency allele imbalance locus, and genetic susceptibility to nasopharyngeal carcinoma]. Xiong W, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2003 Aug. PMID 12903040
    4. FBXO30 functions as a tumor suppressor and an E3 ubiquitin ligase for hZIP1‑mediated HIF‑1α degradation in renal cell carcinoma. Yuan Y, et al. Int J Oncol, 2023 Mar. PMID 36799168, Free PMC Article
    5. TNFAIP3 Interacting Protein 3 Overexpression Suppresses Nonalcoholic Steatohepatitis by Blocking TAK1 Activation. Liu D, et al. Cell Metab, 2020 Apr 7. PMID 32268115

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBXO30 functions as a tumor suppressor and an E3 ubiquitin ligase for hZIP1mediated HIF1alpha degradation in renal cell carcinoma.
      Title: FBXO30 functions as a tumor suppressor and an E3 ubiquitin ligase for hZIP1‑mediated HIF‑1α degradation in renal cell carcinoma.
    2. Retinoic acid receptor gamma levels are controlled by FBXO30-mediated ubiquitination and that FBXO30 is a key regulator of BMP signaling.
      Title: F-box protein FBXO30 mediates retinoic acid receptor γ ubiquitination and regulates BMP signaling in neural tube defects.
    3. Results suggest that D6S1581 is highly associated with nasopharyngeal carcinoma, and there may be one or more NPC associated genes near D6S1581, including FBXO30.
      Title: [Studies on the relationship between D6S1581, a high frequency allele imbalance locus, and genetic susceptibility to nasopharyngeal carcinoma].
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41030, MGC21674

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    F-box only protein 30
    Names
    F-box domain protein
    F-box only protein, helicase, 18

    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_001348092.2 → NP_001335021.1  F-box only protein 30

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL023806, AL356599
      Consensus CDS
      CCDS5208.1
      UniProtKB/Swiss-Prot
      Q8TB52, Q9BXZ7
      Conserved Domains (2) summary
      pfam15965
      Location:7 → 99
      zf-TRAF_2; TRAF-like zinc-finger
      pfam15966
      Location:613 → 721
      F-box_4; F-box

    2. NM_032145.5 → NP_115521.3  F-box only protein 30

      See identical proteins and their annotated locations for NP_115521.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF248640, AL023806, AL356599, BC024326, BG718454
      Consensus CDS
      CCDS5208.1
      UniProtKB/Swiss-Prot
      Q8TB52, Q9BXZ7
      Related
      ENSP00000237281.3, ENST00000237281.5
      Conserved Domains (2) summary
      pfam15965
      Location:7 → 99
      zf-TRAF_2; TRAF-like zinc-finger
      pfam15966
      Location:613 → 721
      F-box_4; F-box

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      145793502..145814795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419398.1 → XP_047275354.1  F-box only protein 30 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      146986553..147007846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB52.3 GenPept UniProtKB/Swiss-Prot:Q8TB52

    Gene LinkOut

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