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

Gene ID: 84085, updated on 27-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
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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
  • 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)

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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