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

Gene ID: 554251, updated on 6-Nov-2022

Summary

Official Symbol
FBXO48provided by HGNC
Official Full Name
F-box protein 48provided by HGNC
Primary source
HGNC:HGNC:33857
See related
Ensembl:ENSG00000204923 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

See FBXO48 in Genome Data Viewer
Location:
2p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68459422..68467294, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68471784..68479656, 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 pleckstrin 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001024680.3NP_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 110 details...Open this link in a new tab

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_005264407.4XP_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
  2. XM_017004437.3XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    68471784..68479656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)