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

    Gene ID: 554251, updated on 15-Jun-2019

    Summary

    Official Symbol
    FBXO48provided by HGNC
    Official Full Name
    F-box protein 48provided by HGNC
    Primary source
    HGNC:HGNC:33857
    See related
    Ensembl:ENSG00000204923
    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
    Expression
    Ubiquitous expression in skin (RPKM 1.2), duodenum (RPKM 1.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See FBXO48 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (68462366..68467325, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68689498..68694448, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927723 Neighboring gene pleckstrin Neighboring gene WD repeat domain 4 pseudogene Neighboring gene aprataxin and PNKP like factor Neighboring gene nuclear pore associated protein 1 like pseudogene Neighboring gene transmembrane and coiled-coil domain family 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    HIV-1 interactions

    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

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    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_001024680.3NP_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:3577
      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: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      68459422..68467325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q5FWF7
      Conserved Domains (1) summary
      pfam12937
      Location:3577
      F-box-like; F-box-like
    2. XM_005264407.3XP_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:3577
      F-box-like; F-box-like
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