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

    Gene ID: 554251, updated on 17-Jun-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
    mouse all
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    Genomic context

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    See FBXO48 in Genome Data Viewer
    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

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

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