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    FBXO27 F-box protein 27 [ Homo sapiens (human) ]

    Gene ID: 126433, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FBXO27provided by HGNC
    Official Full Name
    F-box protein 27provided by HGNC
    Primary source
    HGNC:HGNC:18753
    See related
    Ensembl:ENSG00000161243 MIM:609099; AllianceGenome:HGNC:18753
    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
    Also known as
    FBG5; Fbx27
    Summary
    Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in skin (RPKM 7.0), fat (RPKM 5.3) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO27 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39005842..39032549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41809624..41837135, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39514661..39523189, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10590 Neighboring gene Sharpr-MPRA regulatory region 3914 Neighboring gene F-box protein 17 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39460743-39460953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14610 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39521986-39522168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39522284-39523076 Neighboring gene uncharacterized LOC124904801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14611 Neighboring gene NANOG hESC enhancer GRCh37_chr19:39549145-39549646 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:39564087-39565286 Neighboring gene Sharpr-MPRA regulatory region 11111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39574861-39575361 Neighboring gene acid phosphatase 7, tartrate resistant (putative) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14612

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. [Clinical conference: Thrombocythemic introduction to chronic myeloid leukemia]. Bauters F, et al. Nouv Rev Fr Hematol, 1975 Mar-Apr. PMID 126433
    2. Ubiquitination of exposed glycoproteins by SCF(FBXO27) directs damaged lysosomes for autophagy. Yoshida Y, et al. Proc Natl Acad Sci U S A, 2017 Aug 8. PMID 28743755, Free PMC Article
    3. A new subfamily of structurally related human F-box proteins. Ilyin GP, et al. Gene, 2002 Aug 21. PMID 12383498
    4. Skp1 stabilizes the conformation of F-box proteins. Yoshida Y, et al. Biochem Biophys Res Commun, 2011 Jun 24. PMID 21640084
    5. A novel route for F-box protein-mediated ubiquitination links CHIP to glycoprotein quality control. Nelson RF, et al. J Biol Chem, 2006 Jul 21. PMID 16682404

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SCF(FBXO27) ubiquitinates glycoproteins exposed upon lysosomal damage to induce lysophagy.
      Title: Ubiquitination of exposed glycoproteins by SCF(FBXO27) directs damaged lysosomes for autophagy.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycoprotein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    F-box only protein 27
    Names
    F-box protein FBG5
    F-box/G-domain protein 5
    epididymis secretory sperm binding protein

    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_178820.5 → NP_849142.1  F-box only protein 27

      See identical proteins and their annotated locations for NP_849142.1

      Status: VALIDATED

      Source sequence(s)
      AC010605, AF436061, BC014527, BX377760
      Consensus CDS
      CCDS12527.1
      UniProtKB/Swiss-Prot
      Q8NI29, Q96C87
      UniProtKB/TrEMBL
      A0A384MR61
      Related
      ENSP00000292853.3, ENST00000292853.9
      Conserved Domains (2) summary
      pfam04300
      Location:105 → 278
      FBA; F-box associated region
      pfam12937
      Location:39 → 67
      F-box-like

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      39005842..39032549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026290.2 → XP_016881779.1  F-box only protein 27 isoform X3

    2. XM_047438172.1 → XP_047294128.1  F-box only protein 27 isoform X1

    3. XM_047438173.1 → XP_047294129.1  F-box only protein 27 isoform X1

    4. XM_047438174.1 → XP_047294130.1  F-box only protein 27 isoform X2

      UniProtKB/Swiss-Prot
      Q8NI29, Q96C87
      UniProtKB/TrEMBL
      A0A384MR61

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41809624..41837135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319822.1 → XP_054175797.1  F-box only protein 27 isoform X3

    2. XM_054319820.1 → XP_054175795.1  F-box only protein 27 isoform X1

    3. XM_054319819.1 → XP_054175794.1  F-box only protein 27 isoform X1

    4. XM_054319821.1 → XP_054175796.1  F-box only protein 27 isoform X2

      UniProtKB/Swiss-Prot
      Q8NI29, Q96C87
      UniProtKB/TrEMBL
      A0A384MR61
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NI29.2 GenPept UniProtKB/Swiss-Prot:Q8NI29

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