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FBXO48 F-box protein 48 [ Homo sapiens (human) ]

Gene ID: 554251, updated on 5-Mar-2024

Summary

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Official Symbol
FBXO48provided by HGNC
Official Full Name
F-box protein 48provided by HGNC
Primary source
HGNC:HGNC:33857
See related
Ensembl:ENSG00000204923 MIM:620549; AllianceGenome:HGNC:33857
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
Summary
Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 1.2), duodenum (RPKM 1.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68459422..68467294, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68471784..68479683, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68686554..68694426, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15952 Neighboring gene pleckstrin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:68693660-68694555 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:68694556-68695450 Neighboring gene WDR4 pseudogene 2 Neighboring gene aprataxin and PNKP like factor Neighboring gene putative UPF0607 protein ENSP00000383783 pseudogene Neighboring gene transmembrane and coiled-coil domain family 1 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. Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. Xiu X, et al. Neurosci Lett, 2013 Apr 29. PMID 23485738
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Patsopoulos NA, et al. Ann Neurol, 2011 Dec. PMID 22190364, Free PMC Article
  3. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. Johnson TP, et al. Proc Natl Acad Sci U S A, 2013 Aug 13. PMID 23898208, Free PMC Article
  4. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
  5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. mutations in the coding region of the FBXO48 gene play little or no role in the development of Parkinson diseases.
    Title: Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease.
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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
EBI GWAS Catalog

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of F-box protein 48 (FBXO48) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
F-box only protein 48

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_001024680.3 → NP_001019851.1  F-box only protein 48

    See identical proteins and their annotated locations for NP_001019851.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AC127383, BG435927, DB303415, DQ904332
    Consensus CDS
    CCDS33213.1
    UniProtKB/Swiss-Prot
    Q5FWF7
    Related
    ENSP00000367193.2, ENST00000377957.4
    Conserved Domains (1) summary
    pfam12937
    Location:35 → 77
    F-box-like; F-box-like

RNA

  1. NR_133923.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks 3' exons compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    BG435927, CN257687

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    68459422..68467294 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264407.4 → XP_005264464.1  F-box only protein 48 isoform X1

    See identical proteins and their annotated locations for XP_005264464.1

    UniProtKB/Swiss-Prot
    Q5FWF7
    Conserved Domains (1) summary
    pfam12937
    Location:35 → 77
    F-box-like; F-box-like

  2. XM_017004437.3 → XP_016859926.1  F-box only protein 48 isoform X1

    UniProtKB/Swiss-Prot
    Q5FWF7
    Conserved Domains (1) summary
    pfam12937
    Location:35 → 77
    F-box-like; F-box-like

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    68471784..68479683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342833.1 → XP_054198808.1  F-box only protein 48 isoform X1

    UniProtKB/Swiss-Prot
    Q5FWF7

  2. XM_054342832.1 → XP_054198807.1  F-box only protein 48 isoform X1

    UniProtKB/Swiss-Prot
    Q5FWF7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5FWF7.1 GenPept UniProtKB/Swiss-Prot:Q5FWF7

Gene LinkOut

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