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    FBXL14 F-box and leucine rich repeat protein 14 [ Homo sapiens (human) ]

    Gene ID: 144699, updated on 9-Dec-2024

    Summary

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    Official Symbol
    FBXL14provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 14provided by HGNC
    Primary source
    HGNC:HGNC:28624
    See related
    Ensembl:ENSG00000171823 MIM:609081; AllianceGenome:HGNC:28624
    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
    Fbl14
    Summary
    Members of the F-box protein family, such as FBXL14, 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
    Ubiquitous expression in testis (RPKM 7.1), colon (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXL14 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (1565993..1594842, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (1560304..1591264, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1675159..1704008, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:1608954-1610153 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:1611914-1612112 Neighboring gene long intergenic non-protein coding RNA 942 Neighboring gene uncharacterized LOC107984507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5803 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:1697008-1697667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1701701-1702304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1714497-1715018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1715019-1715538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4116 Neighboring gene Sharpr-MPRA regulatory region 3814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5808 Neighboring gene Wnt family member 5B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1755758-1756258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1756259-1756759 Neighboring gene microRNA 3649

    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. Loss of FBXL14 promotes mesenchymal shift and radioresistance of non-small cell lung cancer by TWIST1 stabilization. Cui YH, et al. Signal Transduct Target Ther, 2021 Jul 21. PMID 34285182, Free PMC Article
    2. FBXL14 abolishes breast cancer progression by targeting CDCP1 for proteasomal degradation. Cui YH, et al. Oncogene, 2018 Oct. PMID 29973690
    3. Deubiquitinase USP13 maintains glioblastoma stem cells by antagonizing FBXL14-mediated Myc ubiquitination. Fang X, et al. J Exp Med, 2017 Jan. PMID 27923907, Free PMC Article
    4. LKB1 obliterates Snail stability and inhibits pancreatic cancer metastasis in response to metformin treatment. Song L, et al. Cancer Sci, 2018 May. PMID 29601127, Free PMC Article
    5. The E3 ubiquitin ligase SCF(FBXL14) complex stimulates neuronal differentiation by targeting the Notch signaling factor HES1 for proteolysis. Chen F, et al. J Biol Chem, 2017 Dec 8. PMID 29070679, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of FBXL14 promotes mesenchymal shift and radioresistance of non-small cell lung cancer by TWIST1 stabilization.
      Title: Loss of FBXL14 promotes mesenchymal shift and radioresistance of non-small cell lung cancer by TWIST1 stabilization.
    2. FBXL14 acts as an novel interaction partner of CDCP1, and facilitates its ubiquitination and proteasomal degradation with an enhanced capacity to suppress CDCP1 protein stability that eventually prevents CDCP1 target genes involved in breast cancer metastasis.
      Title: FBXL14 abolishes breast cancer progression by targeting CDCP1 for proteasomal degradation.
    3. induced FBXL13 expression downregulates centrosomal gamma-tubulin and disrupts centrosomal microtubule arrays. In addition, depletion of FBXL13 induces high levels of CEP192 and gamma-tubulin at the centrosomes with the consequence of defects in cell motility.
      Title: FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration.
    4. USP13 and FBXL14 play opposing roles in the regulation of glioma stem cells (GSCs) through reversible ubiquitination of c-Myc.
      Title: Deubiquitinase USP13 maintains glioblastoma stem cells by antagonizing FBXL14-mediated Myc ubiquitination.
    5. Data show that Twist1 small interfering RNA prevents hypoxia-induced Fbxl14 down-regulation and SNAIL1 stabilization.
      Title: The hypoxia-controlled FBXL14 ubiquitin ligase targets SNAIL1 for proteasome degradation.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40195

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    F-box/LRR-repeat protein 14

    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_001405291.1 → NP_001392220.1  F-box/LRR-repeat protein 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004671, AC005182

    2. NM_001405292.1 → NP_001392221.1  F-box/LRR-repeat protein 14 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004671, AC005182

    3. NM_001405293.1 → NP_001392222.1  F-box/LRR-repeat protein 14 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005182

    4. NM_152441.3 → NP_689654.1  F-box/LRR-repeat protein 14 isoform 1

      See identical proteins and their annotated locations for NP_689654.1

      Status: VALIDATED

      Source sequence(s)
      AC004671, AC005182
      Consensus CDS
      CCDS8509.1
      UniProtKB/Swiss-Prot
      Q8N1E6
      Related
      ENSP00000344855.3, ENST00000339235.4
      Conserved Domains (3) summary
      cd09293
      Location:228 → 401
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:145 → 170
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:5 → 46
      F-box-like

    RNA

    1. NR_175934.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004671, AC005182

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      1565993..1594842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428391.1 → XP_047284347.1  F-box/LRR-repeat protein 14 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      1560304..1591264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371207.1 → XP_054227182.1  F-box/LRR-repeat protein 14 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1E6.1 GenPept UniProtKB/Swiss-Prot:Q8N1E6

    Gene LinkOut

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

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