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

Gene ID: 126433, updated on 2-Nov-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
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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: HPA RNA-seq normal tissues 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. [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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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

Gene LinkOut

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

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